부산대학교 도서관

Ta, M.-C.; Cazals-Hatem, D.; Billiauws, L.; Amiot, A.; Bellaiche, M.; Berrebi, D.; Coffin, B.; Corcos, O.; Ecochard-Dugelay, E.; Goulet, O.; Lacaille, F.; Lambe, C.; Nadjar, Y.; Rendu, J.; Talbotec, C.; Charbit-Henrion, F.; Joly, F.

Clinical Nutrition ESPEN. 69:835-835

Simo J; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Lugar HM; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, United States.; Miller E; Department of Diagnostic Imaging, The Hospital for Sick Children (SickKids), University of Toronto, Toronto, ON, Canada.; Wilf-Yarkoni A; Neuroimmunology Unit, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Goldberg Y; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; The Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Kocaağa A; Department of Medical Genetics, Eskisehir City Hospital, Eskişehir, Türkiye.; Ito S; Department of Medical Education, Graduate School of Medicine, Chiba University, Chiba, Japan.; Cocozza S; Department of Advanced Biomedical Sciences, University of Naples 'Federico II', Naples, Italy.; Frontino G; Department of Pediatrics, Diabetes Research Institute, IRCCS San Raffaele Hospital, Milan, Italy.; Baldoli C; Neuroradiology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Benbachir A; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Ashton C; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Neurology, Royal Perth Hospital, Perth, WA, Australia.; Rouleau GA; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Hershey T; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, United States.; Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO, United States.; Nadjar Y; Department of Neurology, Pitié-Salpêtrière University Hospital, Paris, France.; La Piana R; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Diagnostic Radiology, McGill University, Montreal, QC, Canada.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Marelli, C.; Ramond, F.; Vignal, C.; Blanchet, C.; Frost, S.; Hao, Q.; Bocquet, B.; Nadjar, Y.; Leboucq, N.; Taieb, G.; Benkirane, M.; Hersent, C.; Koenig, M.; Meunier, I.

Journal of Neurology. 271(9):6038-6044

Camou F; Service de Médecine Interne, CHU de Bordeaux, Hôpitaux Haut Lévêque, Pessac, France.; Serratrice C; Département de Médecine Interne de L'âgé, Hôpitaux Universitaires de Genève, Thonex, Suisse.; Pettazzoni M; Laboratory of Biochemistry and Molecular Biology UM Inherited Metabolic and Red Blood Cell Diseases Hospices Civils de Lyon, Hospital Cluster East, Biology Center East, 69677, Bron Cedex, France.; Nadjar Y; Hospital Pitié Salpêtrière Department of Neurology Neuro-Metabolism, Assistance Publique-Hôpitaux de Paris, Filière G2m, 75013, Paris, France.; Brassier A; Centre de Référence Des Maladies Héréditaires du Métabolismes, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, IHU Institut Imagine, Filière G2m, Paris, France.; Bekri S; Laboratory of Metabolic Biochemistry, Rouen University Hospital, 76000, Rouen, France.; Cador-Rousseau B; Department of Internal Medicine, Pontchaillou University Hospital, 35033, Rennes Cedex 9, France.; Dagneaux L; Service d'Orthopédie, CHU de Montpellier, Montpellier, France.; Dalbies F; Institut de Cancéro-Hématologie, CHRU Morvan, Brest, France.; Froissart R; Laboratory of Biochemistry and Molecular Biology UM Inherited Metabolic and Red Blood Cell Diseases Hospices Civils de Lyon, Hospital Cluster East, Biology Center East, 69677, Bron Cedex, France.; Genevaz D; Association VML, Vaincre Les Maladies Lysosomales, Paris, France.; Guemann AS; Centre de Référence Des Maladies Héréditaires du Métabolisme de L'enfant Et de L'adulte, CHRU de Lille, Lille, France.; Hivert B; Service d'Hématologie, Hôpital Saint Vincent de Paul, Lille, France.; Leguy-Seguin V; Service de Médecine Interne Et Immunologie Clinique, CHU Bocage Central, Dijon, France.; Marcel C; Laboratory of Biochemistry and Molecular Biology UM Inherited Metabolic and Red Blood Cell Diseases Hospices Civils de Lyon, Hospital Cluster East, Biology Center East, 69677, Bron Cedex, France.; Masseau A; Service de Médecine Interne, CHU Hôtel Dieu, Nantes, France.; Michaud M; Department of Internal Medicine, Joseph Ducuing Hospital, BP 53160, 31027, Toulouse Cedex 3, France.; Pers YM; IRMB, Université de Montpellier, Inserm U1183, CHU Montpellier, Montpellier, France.; Stirnemann J; Service de Médecine Interne, Hôpitaux Universitaires de Genève, Geneva, Switzerland.; Vergnaud S; Rare Enzyme Inherited Diseases - CGD, SB2TE - IBP Grenoble Alpes University Hospital, CS 10217, 38043, Grenoble Cedex 9, France.; Nguyen Y; Service de Médecine Interne, Centre de Référence Des Maladies Lysosomales, Hôpital Beaujon, Université Paris Cité, Filière G2m, AP-HP, NordClichy, France. yann.nguyen2@aphp.fr.; Centre for Research in Epidemiology and Statistics (CRESS), Université Paris Cité and Université Sorbonne Paris Nord, Inserm, INRAE, Paris, France. yann.nguyen2@aphp.fr.; Service de Médecine Interne, Centre de Référence Des Maladies Lysosomales, Hôpital Beaujon, Université Paris Cité, 100 Bd du Général Leclerc, AP-HP92110, NordClichy, France. yann.nguyen2@aphp.fr.; Caillaud C; Laboratory of Metabolic Biochemistry, Necker Hospital - Sick Children, 75015, Paris, France.; Pichard S; Centre de Référence Des Maladies Héréditaires du Métabolismes, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, IHU Institut Imagine, Filière G2m, Paris, France.; Berger MG; Department of Biological Hematology, Center for Biological Resources (CBR) Auvergne, Estaing University Hospital, 63003, Clermont-Ferrand Cedex 1, France.; Belmatoug N; Service de Médecine Interne, Centre de Référence Des Maladies Lysosomales, Hôpital Beaujon, Université Paris Cité, Filière G2m, AP-HP, NordClichy, France.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Cano A; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Reference Center for Inherited Metabolic Diseases, Marseille University Hospital, Assistance Publique-Hôpitaux de Marseille (AP-HM), Marseille, France.; Chen X; Data Science Platform, Imagine Institute, Paris-Cité University, Paris, France.; Division of Computational Health Sciences, Department of Surgery, University of Minnesota, Minneapolis, Minnesota, USA.; Khemiri A; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Brassier A; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris-Cité University, Paris, France.; Jean-Baptiste A; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris-Cité University, Paris, France.; Froissart R; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Metabolic Inborn Errors of Metabolism Unit, East Hospital Group, Biochemical and Molecular Biology Laboratory, Lyon University Hospital, Bron, France.; Bouchereau J; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris-Cité University, Paris, France.; Hoebeke C; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Reference Center for Inherited Metabolic Diseases, Marseille University Hospital, Assistance Publique-Hôpitaux de Marseille (AP-HM), Marseille, France.; Mazodier K; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Reference Center for Inherited Metabolic Diseases, Marseille University Hospital, Assistance Publique-Hôpitaux de Marseille (AP-HM), Marseille, France.; Héron B; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Department of Paediatric Neurology, Reference Center for Lysosomal Diseases, Armand Trousseau-La Roche Guyon University Hospital, and I2D2 Hospitalo-University Federation, Sorbonne University, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Labrune P; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Reference Center for Inherited Metabolic Liver Diseases, Antoine Béclère Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), ClamartParis-Saclay University, France.; Caillaud C; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Metabolic Biochemistry Laboratory, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris-Cité University, Paris, France.; Cheillan D; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Metabolic Inborn Errors of Metabolism Unit, East Hospital Group, Biochemical and Molecular Biology Laboratory, Lyon University Hospital, Bron, France.; Nadjar Y; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Neuro-Metabolism Unit, Neurology Department, Reference Center for Metabolic and Lysosomal Neurological Diseases, Pitié-Salpêtrière University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Pichard S; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris-Cité University, Paris, France.; Imbard A; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Metabolic Biochemistry Laboratory, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris-Cité University, Paris, France.; Pettazzoni M; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Metabolic Inborn Errors of Metabolism Unit, East Hospital Group, Biochemical and Molecular Biology Laboratory, Lyon University Hospital, Bron, France.; Douillard C; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Department of Endocrinology, Diabetology, Metabolism, Reference Center for Inherited Metabolic Diseases, Lille University Hospital, Lille, France.; Nadia B; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Department of Internal Medicine and Reference Center for Lysosomal Disorders, University Hospital, Beaujon Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Clichy, France.; Calatayud AL; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Zerguini M; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Garcelon N; Data Science Platform, Imagine Institute, Paris-Cité University, Paris, France.; Benoist JF; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Metabolic Biochemistry Laboratory, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris-Cité University, Paris, France.; Acquaviva C; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Metabolic Inborn Errors of Metabolism Unit, East Hospital Group, Biochemical and Molecular Biology Laboratory, Lyon University Hospital, Bron, France.; De Lonlay P; Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.; Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris-Cité University, Paris, France.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

A. Morin; G. Carle; A. Ponchel; G. Fernández-Eulate; Y. Nadjar

Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)

Beydon M; Service de Médecine Interne, Centre de référence des maladies lysosomales, Filière maladies héréditaires du métabolisme, Hôpital Beaujon, AP-HP.Nord, Université Paris Cité, Paris, France.; INSERM, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Equipe PEPITES, AP-HP, Hôpital Pitié Salpêtrière, Département de Santé Publique, Centre de Pharmacoépidémiologie (Cephepi), Sorbonne Université, Paris, France.; Stirnemann J; Service de Médecine Interne Générale, Hôpitaux Universitaires de Genève, Genève, Switzerland.; Yousfi K; Service de Médecine Interne, Centre de référence des maladies lysosomales, Filière maladies héréditaires du métabolisme, Hôpital Beaujon, AP-HP.Nord, Université Paris Cité, Paris, France.; Zebiche S; Service de Médecine Interne, Centre de référence des maladies lysosomales, Filière maladies héréditaires du métabolisme, Hôpital Beaujon, AP-HP.Nord, Université Paris Cité, Paris, France.; Hamroun D; Pôle Recherche & Innovation, CHU de Montpellier, Montpellier, France.; Brassier A; Centre de Référence des Maladies Lysosomales, Hôpital Necker-Enfants Malades, Filière G2M, Assistance Publique-Hôpitaux de Paris, IHU Institut Imagine, Paris, France.; Pichard S; Centre de Référence des Maladies Lysosomales, Hôpital Necker-Enfants Malades, Filière G2M, Assistance Publique-Hôpitaux de Paris, IHU Institut Imagine, Paris, France.; Swiader L; Service de Médecine Interne, Hôpital La Timone, Assistance Publique-Hôpitaux de Marseille, Marseille, France.; de Villemeur TB; Service de Neurologie Pédiatrique, Centre de Référence des Maladies Lysosomales, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, APHP.Sorbonne Université, Paris, France.; Héron B; Service de Neurologie Pédiatrique, Centre de Référence des Maladies Lysosomales, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, APHP.Sorbonne Université, Paris, France.; Dalbies F; Institut de Cancéro-Hématologie, CHRU Morvan, Brest, France.; Cador B; Service de Médecine Interne, CHU Pontchaillou, Rennes, France.; Guemann AS; Centre de Référence des maladies héréditaires du métabolisme de l'enfant et de l'adulte, CHRU de Lille, Lille, France.; Gaches F; Service de Médecine Interne, Clinique Monié, Villefranche-de-Lauragais, France.; Hivert B; Service d'Hématologie, Hospital Saint-Vincent-de-Paul, Lille, France.; Leguy-Seguin V; Service de Médecine Interne et Immunologie Clinique, CHU Bocage Central, Dijon, France.; Masseau A; Service de Médecine Interne, CHU Hôtel Dieu, Nantes, France.; Pers YM; IRMB, Université de Montpellier, Inserm U1183, CHU Montpellier, Montpellier, France.; Pettazzoni M; Service de biochimie et biologie moléculaire, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.; Bekri S; Département de Biochimie Métabolique, UNIROUEN, INSERM U1245, CHU Rouen, Rouen, France.; Caillaud C; Laboratoire de Biochimie, Métabolomique et Protéomique, AP-HP.Centre Université Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.; Guillou EL; Laboratoire de Biochimie, Métabolomique et Protéomique, AP-HP.Centre Université Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.; Szymanowski M; Service de Pédiatrie, CHU Estaing, Clermont-Ferrand, France.; Astudillo L; Service de médecine Interne, CHU Toulouse, Toulouse, France.; Mauhin W; Service de médecine interne, Centre de Référence des Maladies Lysosomales, Hôpital La Croix Saint-Simon, Paris, France.; Nadjar Y; Service de Neurologie, Centre de Référence des Maladies Lysosomales, Hôpital Pitié-Salpêtrière, Paris, France.; Serratrice C; Service de Médecine interne de l'âgé, Hôpitaux Universitaires de Genève, Thonex, Switzerland.; Berger MG; Service d'Hématologie Biologique et service d'Hématologie Clinique Adulte, CHU Estaing, Clermont-Ferrand, France.; EA 7453 CHELTER, Université Clermont Auvergne, Clermont-Ferrand, France.; Camou F; Service de Médecine Interne et Maladies Infectieuses, Hôpital Haut-Lévêque, CHU de Bordeaux, Pessac, France.; Belmatoug N; Service de Médecine Interne, Centre de référence des maladies lysosomales, Filière maladies héréditaires du métabolisme, Hôpital Beaujon, AP-HP.Nord, Université Paris Cité, Paris, France.; Nguyen Y; Service de Médecine Interne, Centre de référence des maladies lysosomales, Filière maladies héréditaires du métabolisme, Hôpital Beaujon, AP-HP.Nord, Université Paris Cité, Paris, France.; Inserm, INRAE, Centre for Research in Epidemiology and Statistics (CRESS), Université Paris Cité and Université Sorbonne Paris Nord, Paris, France.

Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 8904841 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2796 (Electronic) Linking ISSN: 09546820 NLM ISO Abbreviation: J Intern Med Subsets: MEDLINE

Ta MC; Paris-Cité University - AP-HP, Beaujon Hospital, Department of Pathology, Clichy, France.; Paris-Cité University - AP-HP, Necker Hospital, Department of Genomic Medicine for Rare Diseases, Paris, France.; Cazals-Hatem D; Paris-Cité University - AP-HP, Beaujon Hospital, Department of Pathology, Clichy, France.; Billiauws L; Paris-Cité University - AP-HP, Beaujon Hospital, Department of Gastroenterology and Clinical Nutrition, French National Reference Center for Rare Digestive Diseases, Clichy, France.; Amiot A; Department of Gastroenterology, Hopitaux Universitaires Bicêtre, AP-HP, Université Paris Saclay, INSERM, Centre for Research in Epidemiology and Population Health, Le Kremlin Bicêtre, France.; Bellaiche M; Paris-Cité University - AP-HP, Robert Debré Hospital, Department of Gastroenterology, Paris, France.; Berrebi D; Paris-Cité University - AP-HP, Necker Hospital and Robert Debré Hospital, Department of Pathology, Paris, France.; Coffin B; Paris-Cité University - AP-HP, Louis Mourier Hospital, Department of Gastroenterology, Colombes, France.; Corcos O; Paris-Cité University - AP-HP, Beaujon Hospital, Department of Gastroenterology and Clinical Nutrition, French National Reference Center for Rare Digestive Diseases, Clichy, France.; Ecochard-Dugelay E; Paris-Cité University - AP-HP, Robert Debré Hospital, Department of Gastroenterology, Paris, France.; Goulet O; Paris-Cité University - AP-HP, Necker Hospital, Department of Pediatric Gastroenterology, Paris, France.; Lacaille F; Paris-Cité University - AP-HP, Necker Hospital, Department of Pediatric Gastroenterology, Paris, France.; Lambe C; Paris-Cité University - AP-HP, Necker Hospital, Department of Pediatric Gastroenterology, Paris, France.; Nadjar Y; Sorbonne University - AP-HP, Pitié-Salpêtrière Hospital, Department of Neurology, Paris, France.; Rendu J; Grenoble University Hospital, Department of Molecular Genetics, Grenoble, France.; Talbotec C; Paris-Cité University - AP-HP, Necker Hospital, Department of Pediatric Gastroenterology, Paris, France.; Charbit-Henrion F; Paris-Cité University - AP-HP, Necker Hospital, Department of Genomic Medicine for Rare Diseases, Paris, France.; INSERM UMR1163, Intestinal Immunity, Institut Imagine, Paris, France.; Joly F; Paris-Cité University - AP-HP, Beaujon Hospital, Department of Gastroenterology and Clinical Nutrition, French National Reference Center for Rare Digestive Diseases, Clichy, France.; INSERM UMR1149, Center for Research on Inflammation, Paris, France.

Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 0421030 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1572-0241 (Electronic) Linking ISSN: 00029270 NLM ISO Abbreviation: Am J Gastroenterol Subsets: MEDLINE

Mandia D; Neurology Department, AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Metabolic and Lysosomal Neurological Diseases, Paris, France.; Metodiev MD; Imagine Institute, Laboratory for Genetics of Mitochondrial Disorders, Université Paris Cité, Paris, France.; Benoist JF; Service de Biochimie métabolique, Hôpital Universitaire Necker Enfants Malades, AP-HP, Faculté de Pharmacie, Université Paris Saclay, Paris, France.; Gaignard P; Service de Biochimie, Centre de référence Des Maladies Mitochondriales, FILNEMUS, CHU Bicêtre, Université Paris-Saclay, Le Kremlin Bicetre, France.; Laboratoire Multi-Site SeqOIA-FMG 2025, France.; Ruzzenente B; Imagine Institute, Laboratory for Genetics of Mitochondrial Disorders, Université Paris Cité, Paris, France.; Zuchner S; Department of Human Genetics and Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Beijer D; Department of Human Genetics and Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Fernandez-Eulate G; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Nord-Paris-Est, Myology Institute, Paris, France.; Rötig A; Imagine Institute, Laboratory for Genetics of Mitochondrial Disorders, Université Paris Cité, Paris, France.; Lamari F; Metabolic Biochemistry Unit, Department of Biochemistry of Neurometabolic Diseases, Pitié-Salpêtrière University Hospital, Paris, France.; Rucheton B; Metabolic Biochemistry Unit, Department of Biochemistry of Neurometabolic Diseases, Pitié-Salpêtrière University Hospital, Paris, France.; Rouzier C; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Department of Medical Genetics, Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice, France.; Navarro LR; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Department of Medical Genetics, Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice, France.; Saadi SA; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; Department of Medical Genetics, Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice, France.; Cintas P; Service de Neurologie, Centre de référence Des Maladies Neuromusculaires, Toulouse University Hospital, Toulouse, France.; Maquet J; Department of Internal Medicine, Reference Center for Inborn Errors of Metabolism, G2M Network, Toulouse University Hospital, Toulouse, France.; Masingue M; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Nord-Paris-Est, Myology Institute, Paris, France.; Shor N; Neuroradiology Department, Pitié-Salpêtrière University Hospital, APHP, Sorbonne University, Paris, France.; Nadjar Y; Neurology Department, AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Metabolic and Lysosomal Neurological Diseases, Paris, France.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Mandia, D.; Nadjar, Y.

CORRESPONDANCES EN METABOLISMES HORMONES DIABETES ET NUTRITION; APR-JUN 2025, 29 2, 40p.

Péréon, Y. ; Ahle, G. ; Nadjar, Y.

In Pratique Neurologique - FMC April 2019 10(2):147-151

Nadjar, Y. ; Souvannanorath, S. ; Maisonobe, T. ; Brisset, M. ; De Lonlay, P. ; Schiff, M. ; Viala, K. ; Boutron, A. ; Nicolas, G. ; Laforêt, P.

In Revue Neurologique May 2020 176(5):380-386

Ducatez F; Department of Metabolic Biochemistry, Referral Center for Lysosomal Diseases, Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHU Rouen, Rouen, France.; Department of Neonatal Pediatrics, Intensive Care, and Neuropediatrics, Referral Center for Lysosomal Diseases, Normandie Univ, UNIROUEN, INSERM U1245, CHU Rouen, Rouen, France.; Mauhin W; Department of Internal Medicine-Rheumatology, Referral Center for Lysosomal Diseases, filière G2M, GH Diaconesses, Croix Saint Simon Hospital, Paris, France.; Ottaviani J; Department of Metabolic Biochemistry, Referral Center for Lysosomal Diseases, Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHU Rouen, Rouen, France.; Plichet T; Department of Metabolic Biochemistry, Referral Center for Lysosomal Diseases, Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHU Rouen, Rouen, France.; Pilon C; Department of Metabolic Biochemistry, Referral Center for Lysosomal Diseases, Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHU Rouen, Rouen, France.; Lidove O; Department of Internal Medicine-Rheumatology, Referral Center for Lysosomal Diseases, filière G2M, GH Diaconesses, Croix Saint Simon Hospital, Paris, France.; Barbey F; Department of Immunology, University of Lausanne and University Hospital of Lausanne, Switzerland.; Perrichot R; Service de Néphrologie, Centre Hospitalier de Bretagne Atlantique, Vannes, France.; Vergnaud S; UF Maladies Héréditaires Enzymatiques Rares-CGD, Institut de Biologie et de Pathologies, CHU de Grenoble Alpes, Grenoble, France.; Berger MG; CHU Clermont-Ferrand, Hopital Estaing, CRB-Auvergne, Referral Center for Lysosomal Diseases, Clermont-Ferrand, France.; Université Clermont Auvergne, EA 7453 CHELTER, Referral Center for Lysosomal Diseases, Clermont-Ferrand, France.; Berger J; CHU Clermont-Ferrand, Hopital Estaing, CRB-Auvergne, Referral Center for Lysosomal Diseases, Clermont-Ferrand, France.; Université Clermont Auvergne, EA 7453 CHELTER, Referral Center for Lysosomal Diseases, Clermont-Ferrand, France.; Belmatoug N; Referral Center for Lysosomal Diseases, AP-HP Nord, Beaujon Hospital, Paris Cité University, filière G2M, MetabERN, Paris Cité University, France.; Nadjar Y; Neurology Department, Referral Center for Neurometabolic and Lysosomal Diseases, filière G2M, Hôpital Pitié-Salpêtrière, Paris, France.; Lamari F; AP-HP, Sorbonne Université, DMU Biogem-Metabolic Biochemistry Department, Referral Center for Lysosomal Diseases, filière G2M, Neurometabolic and Neurodegenerative Unit - Hôpital Pitié-Salpêtrière, Paris, France.; Noel E; University Hospital of Strasbourg, Strasbourg, BP, France.; Marret S; Department of Neonatal Pediatrics, Intensive Care, and Neuropediatrics, Referral Center for Lysosomal Diseases, Normandie Univ, UNIROUEN, INSERM U1245, CHU Rouen, Rouen, France.; Bekri S; Department of Metabolic Biochemistry, Referral Center for Lysosomal Diseases, Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHU Rouen, Rouen, France.; Tebani A; Department of Metabolic Biochemistry, Referral Center for Lysosomal Diseases, Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHU Rouen, Rouen, France.

Publisher: Wiley Country of Publication: United States NLM ID: 8801384 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2825 (Electronic) Linking ISSN: 08878013 NLM ISO Abbreviation: J Clin Lab Anal Subsets: MEDLINE

Salardaine Q; Neurology Department, AP-HP Sorbonne University, Pitié-Salpêtrière University Hospital, Paris, France.; Shor N; Neuroradiology Department, Pitié-Salpêtrière University Hospital, AP-HP, Sorbonne University, Paris, France.; Villain N; Neurology Department, AP-HP Sorbonne University, Pitié-Salpêtrière University Hospital, Paris, France.; Institut du Cerveau - ICM, Sorbonne Université, INSERM U1127, CNRS 7225, Paris, France.; Bozon F; Neurology Department, AP-HP Sorbonne University, Pitié-Salpêtrière University Hospital, Paris, France.; Amador MDM; Neurology Department, National Reference center ALS, Pitié-Salpêtrière University Hospital, AP-HP Sorbonne University, Paris, France.; Duchon C; Inherited Metabolic Disease Department and National Reference Centre for Inherited Metabolic diseases, Necker Hospital, AP-HP Centre-Paris University, Paris, France.; Mélé N; Neurology Department, GHU Paris Psychiatrie et Neurosciences, Université Paris Cité, Sainte-Anne Hospital, Paris, France.; Schiff M; Paediatrics Department, Reference Center for Inborn Error of Metabolism, Necker and Robert-Debré Hospital, AP-HP, Université Paris Cité, Paris, France.; Brassier A; Inherited Metabolic Disease Department and National Reference Centre for Inherited Metabolic diseases, Necker Hospital, AP-HP Centre-Paris University, Paris, France.; Nadjar Y; Neurology Department, Reference Center for Neurological Metabolic and Lysosomal Diseases, Pitié-Salpêtrière University Hospital, AP-HP Sorbonne University, Paris, France.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Fernández-Eulate G; Sorbonne Université, INSERM UMRS 974, Institut de Myologie, Centre de recherche en Myologie, 75013 Paris, France; INSERM U1151, CNRS UMR8253, Necker-Enfants Malades Institute, BioSPC (ED562), Université Paris Cité, 75015 Paris, France.; Banal C; Université Paris Cité, iPSC Core Facility, Institut Imagine, INSERM UMR U1163, 75015 Paris, France.; Renault S; Université Paris Cité, iPSC Core Facility, Institut Imagine, INSERM UMR U1163, 75015 Paris, France.; Lefort N; Université Paris Cité, iPSC Core Facility, Institut Imagine, INSERM UMR U1163, 75015 Paris, France.; Nadjar Y; Sorbonne Université, INSERM UMRS 974, Institut de Myologie, Centre de recherche en Myologie, 75013 Paris, France; INSERM U1151, CNRS UMR8253, Necker-Enfants Malades Institute, BioSPC (ED562), Université Paris Cité, 75015 Paris, France; Neuro-Metabolism Unit, Reference Center for Metabolic and Lysosomal Neurological Diseases, Neurology Department, Hôpital Pitié-Salpêtrière, 75013 Paris, France. Electronic address: yann.nadjar@aphp.fr.

Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

Beerepoot S; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC, Location Vrije Universiteit, Amsterdam, the Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, the Netherlands.; Nierkens and Lindemans Group, Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Schoenmakers DH; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC, Location Vrije Universiteit, Amsterdam, the Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, the Netherlands.; Platform 'Medicine for Society', Department of Endocrinology and Metabolism, Amsterdam UMC, Location University of Amsterdam, Amsterdam, the Netherlands.; Fumagalli F; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), IRCCS San Raffaele Scientific Institute, Milan, Italy.; Pediatric Immunohematology Unit and BMT Program, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurology and Neurophysiology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Groeschel S; Neuropaediatrics, General Paediatrics, Diabetology, Endocrinology and Social Paediatrics, University of Tübingen, University Hospital Tübingen, Tübingen, Germany.; Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Schiffmann R; Texas Christian University, Fort Worth, Texas, USA.; Wong S; Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China.; Boespflug-Tanguy O; AP-HP, Service de neuropédiatrie, French Reference Center for Leukodystrophies and Université Paris Cité, UMR 1141, INSERM, NeuroDiderot, Hopital Robert Debré, Paris, France.; Sevin C; TIDU GENOV, Institut du Cerveau et de la Moelle Épinière, ICM, Inserm UMR 1127, CNRS UMR 7225, Sorbonne Université, Paris, France.; Department of Neuropediatrics, French Reference Center for Leukodystrophies, Bicêtre Hospital, Paris, France.; Nadjar Y; Neuro-Metabolism Unit, Reference Center for Lysosomal and Metabolic Neurological Diseases, Department of Neurology, Pitié-Salpêtrière University Hospital, AP-HP, Paris, France.; Bley A; Department of Pediatrics, Leukodystrophy Clinic, University Medical Center Hamburg Eppendorf, Hamburg, Germany.; Mochel F; Reference Center for Neurometabolic Diseases and Leukodystrophies, Department of Medical Genetics, Pitié-Salpêtrière University Hospital, AP-HP, Paris, France.; Horn MA; Department of Neurology, Oslo University Hospital, Oslo, Norway.; Baldoli C; Neuroradiology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Locatelli S; San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), IRCCS San Raffaele Scientific Institute, Milan, Italy.; Hengel H; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Laugwitz L; Neuropaediatrics, General Paediatrics, Diabetology, Endocrinology and Social Paediatrics, University of Tübingen, University Hospital Tübingen, Tübingen, Germany.; Hollak CEM; Platform 'Medicine for Society', Department of Endocrinology and Metabolism, Amsterdam UMC, Location University of Amsterdam, Amsterdam, the Netherlands.; Gieselmann V; Institute for Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Bonn, Germany.; van der Knaap MS; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC, Location Vrije Universiteit, Amsterdam, the Netherlands.; Center for Neurogenomics and Cognitive Research, Integrative Neurophysiology, Amsterdam Neuroscience, Vrije Universiteit, Amsterdam, the Netherlands.; Wolf NI; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC, Location Vrije Universiteit, Amsterdam, the Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, the Netherlands.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Mandia D; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Metabolic and Lysosomal Neurological Diseases, Neurology Department, Paris, France.; Benoit C; Département de Neurophysiologie Clinique, Hôpital de la Pitié-Salpêtrière, APHP Paris VI Université, Paris, France.; Stojkovic T; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, AP-HP, Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France.; Nadjar Y; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Metabolic and Lysosomal Neurological Diseases, Neurology Department, Paris, France.

Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE

Mandia D; Department of Neurology, Neurometabolism Unit, Reference Center for Metabolic and Lysosomal Neurological Diseases, Hôpital Pitié-Salpêtrière, Paris, France.; Shor N; Department of Neuroradiology, Hôpital-Pitié Salpêtrière, Paris, France.; Carlson AK; Mellen Center for Multiple Sclerosis Treatment and Research, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.; Obusez E; Department of Radiology, Imaging Institute, Cleveland Clinic, Cleveland, OH, USA.; Cohen JA; Mellen Center for Multiple Sclerosis Treatment and Research, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.; Fenu S; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Salsano E; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; La Piana R; Department of Neurology & Neurosurgery, Montreal Neurological Institute, McGill University, Canada.; Durães J; Neurology Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Faustino P; Neurology Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Deschamps R; Department of Neurology, Hôpital Fondation Rothschild, Paris, France.; Bensa C; Department of Neurology, Hôpital Fondation Rothschild, Paris, France.; de Pemille CV; Department of Neurology, Hôpital Saint-Joseph, Paris, France.; Maillart E; Department of Neurology, Multiple Sclerosis Unit, Hôpital Pitié-Salpêtrière, Paris, France.; Papeix C; Department of Neurology, Multiple Sclerosis Unit, Hôpital Pitié-Salpêtrière, Paris, France.; Macaron G; Mellen Center for Multiple Sclerosis Treatment and Research, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA; Department of Neurology, Centre Hospitalier de l'Université de Montréal, Montréal, Canada.; Nadjar Y; Department of Neurology, Neurometabolism Unit, Reference Center for Metabolic and Lysosomal Neurological Diseases, Hôpital Pitié-Salpêtrière, Paris, France. Electronic address: yann.nadjar@aphp.fr.

Publisher: Elsevier B. V Country of Publication: Netherlands NLM ID: 101580247 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-0356 (Electronic) Linking ISSN: 22110348 NLM ISO Abbreviation: Mult Scler Relat Disord Subsets: MEDLINE

Ortigoza-Escobar JD; Alfadhel M; Molero-Luis M; Darin N; Spiegel R; de Coo IF; Gerards M; Taylor RW; Artuch R; Nashabat M; Rodriguez-Pombo P; Tabarki B; Pérez-Dueñas B; Distelmaier F; Hahn A; Morava E; Banka S; Debs R; Fraser JL; Isohanni P; Lahdesmaki T; Livingston J; Nadjar Y; Schuler E; Uusimaa J; Vanderver A; Friedman JR; Zimbric MR; McFarland R; Santra S; Wassmer E; Marti-Sanchez L; Darling A

Thiamine Deficiency Study Group & Banka, S 2017, 'Thiamine Deficiency in Childhood with Attention to Genetic Causes : Survival and Outcome Predictors', Annals of Neurology, vol. 82, no. 3. https://doi.org/10.1002/ana.24998

Nguyen Y; Service de Médecine Interne, Centre de référence des maladies lysosomales, Hôpital Beaujon, AP-HP.Nord, Université Paris Cité, Clichy, France.; Centre de Recherche en Epidémiologie et Statistiques (CRESS), Unité Inserm 1153, Université Paris Cité, Paris, France.; Beydon M; Service de Médecine Interne, Centre de référence des maladies lysosomales, Hôpital Beaujon, AP-HP.Nord, Université Paris Cité, Clichy, France.; Yousfi K; Service de Médecine Interne, Centre de référence des maladies lysosomales, Hôpital Beaujon, AP-HP.Nord, Université Paris Cité, Clichy, France.; Zebiche S; Service de Médecine Interne, Centre de référence des maladies lysosomales, Hôpital Beaujon, AP-HP.Nord, Université Paris Cité, Clichy, France.; Hamroun D; Pôle Recherche & Innovation, CHU de Montpellier, Montpellier, France.; Brassier A; Centre de Référence des Maladies Lysosomales, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, IHU Institut Imagine, Paris, France.; Pichard S; Centre de Référence des Maladies Lysosomales, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, IHU Institut Imagine, Paris, France.; Swiader L; Service de Médecine Interne, Hôpital La Timone, Assistance Publique-Hôpitaux de Marseille, Marseille, France.; Billette de Villemeur T; Service de Neurologie Pédiatrique, Centre de Référence des Maladies Lysosomales, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, APHP.Sorbonne Université, Paris, France.; Héron B; Service de Neurologie Pédiatrique, Centre de Référence des Maladies Lysosomales, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, APHP.Sorbonne Université, Paris, France.; Dalbies F; Institut de Cancéro-Hématologie, CHRU Morvan, Brest, France.; Cador B; Service de Médecine Interne, CHU Pontchaillou, Rennes, France.; Guemann AS; Centre de Référence des maladies héréditaires du métabolisme de l'enfant et de l'adulte, CHRU de Lille, Lille, France.; Gaches F; Service de Médecine Interne, Clinique Monié, Villefranche-de-Lauragais, France.; Hivert B; Service d'Hématologie, Hopital Saint-Vincent-de-Paul, Lille, France.; Leguy-Seguin V; Service de Médecine Interne et Immunologie Clinique, CHU Bocage Central, Dijon, France.; Masseau A; Service de Médecine Interne, CHU Hôtel Dieu, Nantes, France.; Deshayes R; Service de Médecine Interne, CHU Hôtel Dieu, Nantes, France.; Pers YM; IRMB, Université de Montpellier, Inserm U1183, CHU Montpellier, Montpellier, France.; Pettazzoni M; Département de Biochimie Métabolique, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.; Bekri S; Département de Biochimie Métabolique, UNIROUEN, INSERM U1245, CHU Rouen, Rouen, France.; Caillaud C; Laboratoire de Biochimie, Métabolomique et Protéomique, AP-HP.Centre Université Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.; Le Guillou E; Laboratoire de Biochimie, Métabolomique et Protéomique, AP-HP.Centre Université Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.; Szymanowski M; Service de Pédiatrie, CHU Estaing, Clermont-Ferrand, France.; Astudillo L; Service de Médecine Interne, CHU Toulouse, Toulouse, France.; Mauhin W; Service de Médecine Interne, Centre de Référence des Maladies Lysosomales, Hôpital La Croix Saint-Simon, Paris, France.; Nadjar Y; Service de Neurologie, Centre de Référence des Maladies Lysosomales, Hôpital Pitié-Salpêtrière, Paris, France.; Serratrice C; Service de Médecine interne de l'âgé, Hôpitaux Universitaires de Genève, Thonex, Switzerland.; Berger MG; Service d'Hématologie Biologique et service d'Hématologie Clinique Adulte, CHU Estaing, Clermont-Ferrand, France.; EA 7453 CHELTER, Université Clermont Auvergne, Clermont-Ferrand, France.; Camou F; Service de Médecine Interne et Maladies Infectieuses, Hôpitaux Haut-Lévêque, CHU de Bordeaux, Pessac, France.; Belmatoug N; Service de Médecine Interne, Centre de référence des maladies lysosomales, Hôpital Beaujon, AP-HP.Nord, Université Paris Cité, Clichy, France.; Stirnemann J; Service de Médecine Interne Générale, Hôpitaux Universitaires de Genève, Genève, Switzerland.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE