부산대학교 도서관

van Wegberg, A.M.J. ; MacDonald, A. ; Ahring, K. ; Bélanger-Quintana, A. ; Beblo, S. ; Blau, N. ; Bosch, A.M. ; Burlina, A. ; Campistol, J. ; Coşkun, T. ; Feillet, F. ; Giżewska, M. ; Huijbregts, S.C. ; Leuzzi, V. ; Maillot, F. ; Muntau, A.C. ; Rocha, J.C. ; Romani, C. ; Trefz, F. ; van Spronsen, F.J.

In Molecular Genetics and Metabolism June 2025 145(2)

van Spronsen F; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address: f.j.van.spronsen@umcg.nl.; Peters H; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, VIC, Australia.; Margvelashvili L; Pediatric Surgery Center, Tbilisi, Georgia.; Agladze D; Research Institute of Clinical Medicine, Tbilisi, Georgia; School of Medicine, New Vision University, Tbilisi, Georgia; Pediatric Surgery Center (KidCo), Tbilisi, Georgia.; Schwartz IVD; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Giżewska M; Department of Pediatrics, Rare Diseases and Metabolic Medicine, Pomeranian Medical University in Szczecin, Szczecin, Poland.; Hamazaki T; Department of Pediatrics, Graduate School of Medicine, Osaka Metropolitan University, Osaka, Japan.; Guilder L; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto and The Hospital for Sick Children, Toronto, ON, Canada.; MacDonald A; Department of Dietetics, Birmingham Children's Hospital, Birmingham, United Kingdom.; Vijay S; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, United Kingdom.; Inwood A; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, South Brisbane, QLD, Australia.; Minami M; Divisão de Neurologia, Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto, Brazil.; Fjellbirkeland O; Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen, Denmark.; Lund A; Center of Inherited Metabolic Diseases, Department of Pediatrics and Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Lah M; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.; Thomas JA; University of Colorado School of Medicine, Department of Pediatrics, Section of Clinical Genetics and Metabolism, Aurora, CO.; Longo N; Division of Clinical Genetics, Department of Human Genetics, University of California Los Angeles, Los Angeles, CA.; Kiykim E; Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Department of Pediatrics, Istanbul, Türkiye.; Ishige M; Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.; Burlina A; Division of Inherited Metabolic Diseases, University Hospital of Padua, Padua, Italy.; Bélanger-Quintana A; Unidad Enfermedades Metabolicas, CSUR, CIBERER, Servicio de Pediatria, Hospital Universitario Ramón y Cajal, Madrid, Spain.; Rutsch F; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.; Opladen T; Division of Pediatric Neurology and Metabolic Medicine, Department I, Center for Pediatric and Adolescent Medicine, Medical Faculty Heidelberg, Heidelberg University, Heidelberg, Germany.; Mungan H; Çukurova Üniversitesi Tıp, Fakültesi Balcalı Hastanesi, Adana, Türkiye.; Ezgü F; Departments of Pediatric Metabolic and Genetic Disorders, Faculty of Medicine, Gazi University, Ankara, Türkiye.; Bratkovic D; Metabolic Unit, Women's and Children's Hospital, North Adelaide, SA, Australia.; Chakrapani A; Department of Metabolic Medicine, Great Ormond Street Hospital, London, United Kingdom.; Ito T; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.; Guimas A; Departamento de Medicina, Centro Hospitalar Universitário Do Porto, Porto, Portugal.; Zori R; Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL.; Tchan M; Department of Genetic Medicine, Westmead Hospital, Sydney, NSW, Australia.; Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Oliveira A; Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.; Janeiro P; Reference Center for Metabolic Diseases, Department of Pediatrics, Hospital Santa Maria, Unidade Local de Saúde Santa Maria, Lisbon, Portugal; Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.; Guerra IC; PanAmerican Clinical Research, Guadalajara, Mexico.; Plana JC; Congenital Metabolic Diseases Unit, Hospital San Joan de Déu, Barcelona, Spain.; Yıldız Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.; Canda E; Division of Metabolism and Nutrition, Department of Pediatrics, Ege University Medical Faculty, Izmir, Türkiye.; Khan A; MAGIC Clinic, Calgary, AB, Canada.; Vockley J; Department of Human Genetics, University of Pittsburgh Schools of Medicine and Public Health, Pittsburgh, PA.; Breilyn MS; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.; Manti F; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.; Larkin A; PTC Therapeutics, Inc, Warren, NJ.; Hughes C; PTC Therapeutics, Inc, Warren, NJ.; Liu E; PTC Therapeutics, Inc, Warren, NJ.; Gao L; PTC Therapeutics, Inc, Warren, NJ.; Ingalls K; PTC Therapeutics, Inc, Warren, NJ.; Smith N; PTC Therapeutics, Inc, Warren, NJ.; Muntau AC; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany and German Center of Child and Adolescent Health (DZKJ), Hamburg, Germany.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Giżewska M; Department of Pediatrics, Rare Diseases and Metabolic Medicine, Pomeranian Medical University in Szczecin, Szczecin, Poland. Electronic address: maria.gizewska@pum.edu.pl.; Inwood A; Department of Metabolic Medicine, Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, Brisbane, QLD, Australia.; Tyčová R; Department of Children and Adolescents 3FM CU and UHKV, Third Faculty of Medicine, Charles University, Prague, Czechia.; Vijay S; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.; Fjellbirkeland O; Department of Paediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen, Denmark.; van Spronsen F; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.; Venegas-Moreno EM; Endocrinology and Nutrition Unit, Virgen del Rocío University Hospital, Seville, Spain.; Guilder L; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto and The Hospital for Sick Children, Toronto, ON, Canada.; Burlina A; Division of Inherited Metabolic Diseases, University Hospital of Padua, Padua, Italy.; Peters H; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, VIC, Australia.; Potter M; Hamilton Health Sciences, McMaster Children's Hospital, Hamilton, Ontario, Canada.; Grošelj U; Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, Ljubljana University Medical Center, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Chakrapani A; Department of Metabolic Medicine, Great Ormond Street Hospital, London, UK.; Bélanger-Quintana A; Reference Center for Hereditary Metabolic Diseases in Children and Adults, Department of Pediatrics, Ramón y Cajal University Hospital, Madrid, Spain.; Maillot F; Department of Internal Medicine, INSERM 1253 'iBraiN', University of Tours, Tours, France.; Rutsch F; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.; Arnoux JB; Reference Center for Rare Diseases for Hereditary Metabolic Diseases in Children and Adults, Necker-Enfants Malades Hospital, G2M Network, Paris Cité University, Imagine Institute, Paris, France.; Tchan M; Department of Genetic Medicine, Westmead Hospital, Sydney, NSW, Australia.; Ingalls K; PTC Therapeutics, Warren, NJ, USA.; Zhao Z; PTC Therapeutics, Warren, NJ, USA.; Hughes C; PTC Therapeutics, Warren, NJ, USA.; Smith N; PTC Therapeutics, Warren, NJ, USA.; Muntau AC; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; German Center of Child and Adolescent Health (DZKJ), Hamburg, Germany.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 0375267 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-8600 (Electronic) Linking ISSN: 00260495 NLM ISO Abbreviation: Metabolism Subsets: MEDLINE

Evans S; Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.; Singh R; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.; Ahring K; The PKU Clinic, Kennedy Centre, Centre for Paediatric and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark.; Ashmore C; Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.; Daly A; Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.; Ford S; National Society for Phenylketonuria (NSPKU), Sheffield S12 9ET, UK.; Gama MI; Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.; Giżewska M; Department of Pediatrics, Rare Diseases and Metabolic Medicine, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.; Hill M; Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield S5 7AU, UK.; Ilgaz F; Department of Nutrition and Dietetics, Faculty of Health Sciences, Hacettepe University, Ankara 06100, Turkey.; Jackson R; Department of Health Data Science, University of Liverpool, Liverpool L69 3GJ, UK.; Newby C; Bristol Royal Hospital for Children, Upper Maudlin St, Bristol BS2 8BJ, UK.; Pinto A; Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.; Tosi M; Department of Health Sciences, University of Milan, 20142 Milan, Italy.; Nas OY; Department of Nutrition and Dietetics, Ankara University, Ankara 06760, Turkey.; Zuvadelli J; Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, 20142 Milan, Italy.; MacDonald A; Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.

Publisher: MDPI Publishing Country of Publication: Switzerland NLM ID: 101521595 Publication Model: Electronic Cited Medium: Internet ISSN: 2072-6643 (Electronic) Linking ISSN: 20726643 NLM ISO Abbreviation: Nutrients Subsets: MEDLINE

Evers, R.A.F. ; van Wegberg, A.M.J. ; Ahring, K. ; Beblo, S. ; Bélanger-Quintana, A. ; Bosch, A.M. ; Burlina, A. ; Campistol, J. ; Coskun, T. ; Feillet, F. ; Giżewska, M. ; Huijbregts, S.C.J. ; Kearney, S. ; Langeveld, M. ; Leuzzi, V. ; Maillot, F. ; Muntau, A.C. ; Rocha, J.C. ; Romani, C. ; Trefz, F.K. ; MacDonald, A. ; van Spronsen, F.J.

In Molecular Genetics and Metabolism April 2021 132(4):215-219

Dos Santos Y; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, 37032, Tours, France. yann.dossantos@etu.univ-tours.fr.; Trefz F; Metabolic Consulting, Panorama Street 139, 72766, Reutlingen, Germany.; Giżewska M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, Szczecin, Poland.; van Wegberg AMJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands.; Lefort B; Department of Pediatrics, university hospital of Tours, Tours, France.; Labarthe F; Department of Pediatrics, university hospital of Tours, Tours, France.; van Spronsen F; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands.; Maillot F; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, 37032, Tours, France.; Department of Internal medicine, university hospital of Tours, Tours, 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

Leśniak A; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.; Glińska M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.; Patalan M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.; Ostrowska I; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.; Świrska-Sobolewska M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.; Giżewska-Kacprzak K; Department of Pediatric and Oncological Surgery, Urology and Hand Surgery, Pomeranian Medical University in Szczecin, Prof. Tadeusz Sokołowski University Clinical Hospital No. 1, 71-252 Szczecin, Poland.; Kotkowiak A; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.; Leśniak A; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.; Walczak M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.; Śmigiel R; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Wroclaw Medical University, 50-368 Wroclaw, Poland.; Giżewska M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Pinto, A. ; Adams, S. ; Ahring, K. ; Allen, H. ; Almeida, M.F. ; Garcia-Arenas, D. ; Arslan, N. ; Assoun, M. ; Atik Altınok, Y. ; Barrio-Carreras, D. ; Belanger Quintana, A. ; Bernabei, S.M. ; Bontemps, C. ; Boyle, F. ; Bruni, G. ; Bueno-Delgado, M. ; Caine, G. ; Carvalho, R. ; Chrobot, A. ; Chyż, K. ; Cochrane, B. ; Correia, Carla ; Corthouts, K. ; Daly, A. ; De Leo, S. ; Desloovere, A. ; De Meyer, A. ; De Theux, A. ; Didycz, B. ; Dijsselhof, M.E. ; Dokoupil, K. ; Drabik, J. ; Dunlop, C. ; Eberle-Pelloth, W. ; Eftring, K. ; Ekengren, J. ; Errekalde, I. ; Evans, S. ; Foucart, A. ; Fokkema, L. ; François, L. ; French, M. ; Forssell, E. ; Gingell, C. ; Gonçalves, C. ; Gökmen Özel, H. ; Grimsley, A. ; Gugelmo, G. ; Gyüre, E. ; Heller, C. ; Hensler, R. ; Jardim, I. ; Joost, C. ; Jörg-Streller, M. ; Jouault, C. ; Jung, A. ; Kanthe, M. ; Koç, N. ; Kok, I.L. ; Kozanoğlu, T. ; Kumru, B. ; Lang, F. ; Lang, K. ; Liegeois, I. ; Liguori, A. ; Lilje, R. ; Ļubina, O. ; Manta-Vogli, P. ; Mayr, D. ; Meneses, C. ; Newby, C. ; Meyer, U. ; Mexia, S. ; Nicol, C. ; Och, U. ; Olivas, S.M. ; Pedrón-Giner, C. ; Pereira, R. ; Plutowska-Hoffmann, K. ; Purves, J. ; Re Dionigi, A. ; Reinson, K. ; Robert, M. ; Robertson, L. ; Rocha, J.C. ; Rohde, C. ; Rosenbaum-Fabian, S. ; Rossi, A. ; Ruiz, M. ; Saligova, J. ; Gutiérrez-Sánchez, A. ; Schlune, A. ; Schulpis, K. ; Serrano-Nieto, J. ; Skarpalezou, A. ; Skeath, R. ; Slabbert, A. ; Straczek, K. ; Giżewska, M. ; Terry, A. ; Thom, R. ; Tooke, A. ; Tuokkola, J. ; van Dam, E. ; van den Hurk, T.A.M. ; van der Ploeg, E.M.C. ; Vande Kerckhove, K. ; Van Driessche, M. ; van Wegberg, A.M.J. ; van Wyk, K. ; Vasconcelos, C. ; Velez García, V. ; Wildgoose, J. ; Winkler, T. ; Żółkowska, J. ; Zuvadelli, J. ; MacDonald, A.

In Molecular Genetics and Metabolism Reports March 2019 18:39-44

A. MacDonald; A. M. J. van Wegberg; K. Ahring; S. Beblo; A. Bélanger-Quintana; A. Burlina; J. Campistol; T. Coşkun; F. Feillet; M. Giżewska; S. C. Huijbregts; V. Leuzzi; F. Maillot; A. C. Muntau; J. C. Rocha; C. Romani; F. Trefz; F. J. van Spronsen

Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-21 (2020)

MacDonald, A.; van Rijn, M.; Feillet, F.; Lund, A.M.; Bernstein, L.; Bosch, A.M.; Gizewska, M.; van Spronsen, F.J.

Annals of Nutrition & Metabolism, 2012 Jan 01. 61(4), 289-295.

Pinto, A. ; Adams, S. ; Ahring, K. ; Allen, H. ; Almeida, M.F. ; Garcia-Arenas, D. ; Arslan, N. ; Assoun, M. ; Atik Altınok, Y. ; Barrio-Carreras, D. ; Belanger Quintana, A. ; Bernabei, S.M. ; Bontemps, C. ; Boyle, F. ; Bruni, G. ; Bueno-Delgado, M. ; Caine, G. ; Carvalho, R. ; Chrobot, A. ; Chyż, K. ; Cochrane, B. ; Correia, C. ; Corthouts, K. ; Daly, A. ; De Leo, S. ; Desloovere, A. ; De Meyer, A. ; De Theux, A. ; Didycz, B. ; Dijsselhof, M.E. ; Dokoupil, K. ; Drabik, J. ; Dunlop, C. ; Eberle-Pelloth, W. ; Eftring, K. ; Ekengren, J. ; Errekalde, I. ; Evans, S. ; Foucart, A. ; Fokkema, L. ; François, L. ; French, M. ; Forssell, E. ; Gingell, C. ; Gonçalves, C. ; Gökmen Özel, H. ; Grimsley, A. ; Gugelmo, G. ; Gyüre, E. ; Heller, C. ; Hensler, R. ; Jardim, I. ; Joost, C. ; Jörg-Streller, M. ; Jouault, C. ; Jung, A. ; Kanthe, M. ; Koç, N. ; Kok, I.L. ; Kozanoğlu, T. ; Kumru, B. ; Lang, F. ; Lang, K. ; Liegeois, I. ; Liguori, A. ; Lilje, R. ; Ļubina, O. ; Manta-Vogli, P. ; Mayr, D. ; Meneses, C. ; Newby, C. ; Meyer, U. ; Mexia, S. ; Nicol, C. ; Och, U. ; Olivas, S.M. ; Pedrón-Giner, C. ; Pereira, R. ; Plutowska-Hoffmann, K. ; Purves, J. ; Re Dionigi, A. ; Reinson, K. ; Robert, M. ; Robertson, L. ; Rocha, J.C. ; Rohde, C. ; Rosenbaum-Fabian, S. ; Rossi, A. ; Ruiz, M. ; Saligova, J. ; Gutiérrez-Sánchez, A. ; Schlune, A. ; Schulpis, K. ; Serrano-Nieto, J. ; Skarpalezou, A. ; Skeath, R. ; Slabbert, A. ; Straczek, K. ; Giżewska, M. ; Terry, A. ; Thom, R. ; Tooke, A. ; Tuokkola, J. ; van Dam, E. ; van den Hurk, T.A.M. ; van der Ploeg, E.M.C. ; Vande Kerckhove, K. ; Van Driessche, M. ; van Wegberg, A.M.J. ; van Wyk, K. ; Vasconcelos, C. ; Velez García, V. ; Wildgoose, J. ; Winkler, T. ; Żółkowska, J. ; Zuvadelli, J. ; MacDonald, A.

In Molecular Genetics and Metabolism Reports September 2018 16:82-89

Ciara, E. ; Rokicki, D. ; Halat, P. ; Karkucińska-Więckowska, A. ; Piekutowska-Abramczuk, D. ; Mayr, J. ; Trubicka, J. ; Szymańska-Dębińska, T. ; Pronicki, M. ; Pajdowska, M. ; Dudzińska, M. ; Giżewska, M. ; Krajewska-Walasek, M. ; Książyk, J. ; Sperl, W. ; Płoski, R. ; Pronicka, E.

In Molecular Genetics and Metabolism Reports June 2016 7:70-76

Kuseyri, O; Weissbach, A; Bruggemann, N; Klein, C; Giżewska, M; Karall, D; Scholl-Bürgi, S; Romanowska, H; Krzywińska-Zdeb, E; Monavari, A A; Knerr, I; Yapıcı, Z; Leuzzi, V; Opladen, T

Journal of Inherited Metabolic Disease. 41:849-863

MacDonald, A. ; Ahring, K. ; Almeida, M.F. ; Belanger-Quintana, A. ; Blau, N. ; Burlina, A. ; Cleary, M. ; Coskum, T. ; Dokoupil, K. ; Evans, S. ; Feillet, F. ; Giżewska, M. ; Gokmen Ozel, H. ; Lotz-Havla, A.S. ; Kamieńska, E. ; Maillot, F. ; Lammardo, A.M. ; Muntau, A.C. ; Puchwein-Schwepcke, A. ; Robert, M. ; Rocha, J.C. ; Santra, S. ; Skeath, R. ; Strączek, K. ; Trefz, F.K. ; van Dam, E. ; van Rijn, M. ; van Spronsen, F. ; Vijay, S.

In Molecular Genetics and Metabolism December 2015 116(4):242-251

MacDonald, A.; van Wegberg, A. M. J.; Ahring, K.; Beblo, S.; Bélanger-Quintana, A.; Burlina, A.; Campistol, J.; Coşkun, T.; Feillet, F.; Giżewska, M.; Huijbregts, S. C.; Leuzzi, V.; Maillot, F.; Muntau, A. C.; Rocha, J. C.; Romani, C.; Trefz, F.; van Spronsen, F. J.

Orphanet Journal of Rare Diseases. 15(1)

Giżewska, Maria; van Wegberg, Annemiek M J; Maillot, François; Trefz, Friedrich; van Spronsen, Francjan J

The Lancet. 399(10336):1689-1689

Aguiar, A. ; Ahring, K. ; Almeida, M.F. ; Assoun, M. ; Belanger Quintana, A. ; Bigot, S. ; Bihet, G. ; Blom Malmberg, K. ; Burlina, A. ; Bushueva, T. ; Caris, A. ; Chan, H. ; Clark, A. ; Clark, S. ; Cochrane, B. ; Corthouts, K. ; Dalmau, J. ; Dassy, M. ; De Meyer, A. ; Didycz, B. ; Diels, M. ; Dokupil, K. ; Dubois, S. ; Eftring, K. ; Ekengren, J. ; Ellerton, C. ; Evans, S. ; Faria, A. ; Fischer, A. ; Ford, S. ; Freisinger, P. ; Giżewska, M. ; Gokmen-Ozel, H. ; Gribben, J. ; Gunden, F. ; Heddrich-Ellerbrok, M. ; Heiber, S. ; Heidenborg, C. ; Jankowski, C. ; Janssen-Regelink, R. ; Jones, I. ; Jonkers, C. ; Joerg-Streller, M. ; Kaalund-Hansen, K. ; Kiss, E. ; Lammardo, A.M. ; Lang, K. ; Lier, D. ; Lilje, R. ; Lowry, S. ; Luyten, K. ; MacDonald, A. ; Meyer, U. ; Moor, D. ; Pal, A. ; Robert, M. ; Robertson, L. ; Rocha, J.C. ; Rohde, C. ; Ross, K. ; Saruhan, S. ; Sjöqvist, E. ; Skeath, R. ; Stoelen, L. ; Ter Horst, N.M. ; Terry, A. ; Timmer, C. ; Tuncer, N. ; Vande Kerckhove, K. ; van der Ploeg, L. ; van Rijn, M. ; van Spronsen, F.J. ; van Teeffelen-Heithoff, A. ; van Wegberg, A. ; van Wyk, K. ; Vasconcelos, C. ; Vitoria, I. ; Wildgoose, J. ; Webster, D. ; White, F.J. ; Zweers, H.

In Molecular Genetics and Metabolism May 2015 115(1):17-22

A. M. J. van Wegberg; A. MacDonald; K. Ahring; A. Bélanger-Quintana; N. Blau; A. M. Bosch; A. Burlina; J. Campistol; F. Feillet; M. Giżewska; S. C. Huijbregts; S. Kearney; V. Leuzzi; F. Maillot; A. C. Muntau; M. van Rijn; F. Trefz; J. H. Walter; F. J. van Spronsen

Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-56 (2017)

van Spronsen, Francjan J, Prof; van Wegberg, Annemiek MJ, MSc; Ahring, Kirsten, MSc; Bélanger-Quintana, Amaya, MD; Blau, Nenad, Prof; Bosch, Annet M, MD; Burlina, Alberto, MD; Campistol, Jaime, Prof; Feillet, Francois, Prof; Giżewska, Maria, MD; Huijbregts, Stephan C, PhD; Kearney, Shauna, MSc; Leuzzi, Vincenzo, Prof; Maillot, Francois, MD; Muntau, Ania C, Prof; Trefz, Fritz K, Prof; van Rijn, Margreet, PhD; Walter, John H, Prof; MacDonald, Anita, Prof

The Lancet Diabetes & Endocrinology. 5(9):743-756

Sałacińska K; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.; Pinkier I; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.; Rutkowska L; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.; Chlebna-Sokół D; Department of Bone Metabolic Diseases, University Centre of Paediatric, Medical University of Lodz, Lodz, Poland.; Jakubowska-Pietkiewicz E; Department of Pediatrics, Newborn Pathology and Bone Metabolic Diseases, Medical University of Lodz, Lodz, Poland.; Michałus I; Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.; Kępczyński Ł; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.; Salachna D; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.; Wieczorek-Cichecka N; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.; Piotrowicz M; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.; Chilarska T; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.; Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Matusik P; Department of Pediatrics, Pediatric Obesity and Metabolic Bone Diseases, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.; Wilk M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.; Petriczko E; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.; Giżewska M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.; Stecewicz I; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.; Walczak M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.; Rybak-Krzyszkowska M; Department of Obstetrics and Perinatology, University Hospital, Kraków, Poland.; Lewiński A; Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.; Gach A; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.

Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE