부산대학교 도서관

Heard, JM; Vrinten, C; Schlander, M; Bellettato, CM; van Lingen, C; Scarpa, M; Matthijs, G; Nassogne, MC; Debray, FG; Roland, D; Chamova, T; Kozich, V; Pavel, J; Zenker, M; Lampe, C; Das, AM; Hennermann, J; Kolker, S; Weinhold, N; Mohnike, K; Gruenert, S; Lund, AM; Morales-Conejo, M; del Toro-Riera, M; Aldamiz-Echevarria, L; Garcia-Silva, MT; Schiff, M; Gouya, L; Labrune, P; de Lonlay, P; Belmatoug, N; Germain, DP; Cano, A; Dobbelaere, D; Jones, S; Dawson, C; Deegan, P; Santra, S; Vijay, S; Ramadza, DP; Baric, I; Zigman, T; Pflieger, G; Szakszon, K; Kaposta, R; Gasperini, S; Burlina, A; Parenti, G; Strisciuglio, P; Ceccarini, G; Federico, A; Simonati, A; Tumiene, B; Huidekoper, H; van Spronsen, F; Bosch, A; Rubio-Gozalbo, ME; Visser, G; Tangeraas, T; Aarsand, A; Kiec-Wilk, B; Gaspar, AMSM; Quelhas, D; Leao-Teles, E; Azevedo, O; Silva, EMFR; Matos, LMDFD; Martins, E; Lajic, S; Darin, N; Groselj, U; Tansek, MZ

Orphanet journal of rare diseases. 15(1):3

Paneghetti L; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; Bellettato CM; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; Sechi A; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; Stepien KM; Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford, UK.; Scarpa M; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy. maurizio.scarpa@metab.ern-net.eu.

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

Sestini S; Italian Association of Patients With Alkaptonuria (aimAKU), Siena, Italy.; Paneghetti L; Regional Coordinating Center for Rare Diseases, MetabERN, Udine University Hospital, Udine, Italy.; Lampe C; Center for Rare Diseases Giessen (ZSEGI), Department of Child Neurology, Justus-Liebig University, Giessen, Germany.; Betti G; Department of Economics and Statistics, University of Siena, Siena, Italy.; Bond S; Regional Coordinating Center for Rare Diseases, MetabERN, Udine University Hospital, Udine, Italy.; Bellettato CM; Regional Coordinating Center for Rare Diseases, MetabERN, Udine University Hospital, Udine, Italy.; Maurizio S; Regional Coordinating Center for Rare Diseases, MetabERN, Udine University Hospital, Udine, Italy. maurizio.scarpa@metab.ern-net.eu.

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

Stepien KM; Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford, United Kingdom.; Kieć-Wilk B; Department of Metabolic Diseases and Diabetes, Krakow University Hospital, Krakow, Poland.; Department of Metabolic Diseases, Medical College, Jagiellonian University, Krakow, Poland.; Lampe C; Department of Child Neurology, Center for Rare Diseases Giessen (ZSEGI), Justus-Liebig University, Giessen, Germany.; Tangeraas T; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.; Cefalo G; Department of Maternal and Child Health, San Paolo Hospital, University of Milan, ASST Santi Paolo e Carlo, Milan, Italy.; Belmatoug N; Referral Center for Lysosomal Diseases, AP-HP Nord, Beaujon Hospital, Paris University, Clichy, France.; Francisco R; Portuguese Association for Congenital Disorders of Glycosylation and other Rare Metabolic Diseases, Lisbon, Portugal.; Del Toro M; Pediatric Neurology Department, University Hospital Vall d'Hebron, Universitat Autónoma de Barcelona, Barcelona, Spain.; Wagner L; German-Speaking Self-Help Group for Alkaptonuria (DSAKU) e.V., Stuttgart, Germany.; Lauridsen AG; International Gaucher Alliance, Dursley, United Kingdom.; Gaucher Association Denmark, Holbaek, Denmark.; Sestini S; Italian Association of Patients With Alkaptonuria (aimAKU), Siena, Italy.; Weinhold N; Metabolic Unit, Interdisciplinary Centre for Metabolism: Endocrinology, Diabetes and Metabolism (UP) and Children's Hospital, Charité University Hospital Berlin, Berlin, Germany.; Hahn A; Department of Child Neurology, Justus-Liebig University, Giessen, Germany.; Montanari C; Department of Maternal and Child Health, San Paolo Hospital, University of Milan, ASST Santi Paolo e Carlo, Milan, Italy.; Rovelli V; Department of Maternal and Child Health, San Paolo Hospital, University of Milan, ASST Santi Paolo e Carlo, Milan, Italy.; Bellettato CM; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; Paneghetti L; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; van Lingen C; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; Scarpa M; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.

Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101648047 Publication Model: eCollection Cited Medium: Print ISSN: 2296-858X (Print) Linking ISSN: 2296858X NLM ISO Abbreviation: Front Med (Lausanne) Subsets: PubMed not MEDLINE

Lampe C; Center for Rare Diseases Giessen (ZSEGI), University Hospital Giessen, Giessen, Germany.; Dionisi-Vici C; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Bellettato CM; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; Paneghetti L; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; van Lingen C; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; Bond S; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; Brown C; Krabbe UK, London, UK.; Finglas A; MSD Action Foundation, Dublin, Ireland.; Francisco R; Portuguese Association for CDG and Other Rare Metabolic Diseases (APCDG-DMR), Almada, Portugal.; Sestini S; Italian Association of Patients With Alkaptonuria (aimAKU), Siena, Italy.; Heard JM; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; Scarpa M; MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy. maurizio.scarpa@metab.ern-net.eu.

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

Bellettato CM; Brains For Brain Foundation, Padova, Italy.; European Reference Network for Hereditary Metabolic Diseases, MetabERN, Wiesbaden, Germany.; Scarpa M; Brains For Brain Foundation, Padova, Italy. maurizio.scarpa@metab.ern-net.eu.; European Reference Network for Hereditary Metabolic Diseases, MetabERN, Wiesbaden, Germany. maurizio.scarpa@metab.ern-net.eu.; Department of Child and Adolescent Medicine, Center for Rare Diseases, Helios Dr. Horst Schmidt Kliniken, Ludwig-Erhard-Straße 100, 65199, Wiesbaden, Germany. maurizio.scarpa@metab.ern-net.eu.; Department for the Woman and Child Health, University of Padova, Padova, Italy. maurizio.scarpa@metab.ern-net.eu.

Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288 (Electronic) Linking ISSN: 17208424 NLM ISO Abbreviation: Ital J Pediatr Subsets: MEDLINE

Bellettato CM; Brains for Brains Foundation, Department of Women and Children Health, Via Giustiniani 3, Padova 35128, Italy.; Hubert L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Scarpa M; Brains for Brains Foundation, Department of Women and Children Health, Via Giustiniani 3, Padova 35128, Italy; Center for Rare Diseases, Department of Pediatric and Adolescent Medicine, Helios Dr. Horst Schmidt Klinik, Ludwig-Erhard-Straße 100, Wiesbaden 65199, Germany; Department of Women and Children Health, University of Padova, Via Giustiniani 3, Padova 35128, Italy.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: michael.wangler@bcm.edu.

Publisher: W.B. Saunders Country of Publication: United States NLM ID: 0401126 Publication Model: Print Cited Medium: Internet ISSN: 1557-8240 (Electronic) Linking ISSN: 00313955 NLM ISO Abbreviation: Pediatr Clin North Am Subsets: MEDLINE

Giannuzzi V; Fondazione Per la Ricerca Farmacologica Gianni Benzi Onlus, Via Abate Eustasio 30, 70010, Valenzano, BA, Italy. vg@benzifoundation.org.; Devlieger H; Department of Development and Regeneration, University of Leuven, O&N IV Herestraat 49-box 805, 3000, Leuven, Belgium.; Margari L; Department of Basic Medical Sciences, Neuroscience and Sense Organs, 'Aldo Moro' University of Bari, Piazza Giulio Cesare 11, 70124, Bari, Italy.; Odlind VL; Department of Obstetrics and Gynaecology, Uppsala Universitet, 751 85, Uppsala, SE, Sweden.; Ragab L; Cairo University, Al Orman Guiza, Giza, 12613, Egypt.; Bellettato CM; Brains for Brain Foundation - onlus, Padova, Italy.; D'Avanzo F; Brains for Brain Foundation - onlus, Padova, Italy.; Lampe C; Brains for Brain Foundation - onlus, Padova, Italy.; Department of Pediatric and Adolescent Medicine, Centre for Rare Diseases, Horst Schmidt Klinik Wiesbaden, Wiesbaden, Germany.; Cassis L; Neurology, Gastroenterology Pathology and Clinical Biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Cortès-Saladelafont E; Neurology, Gastroenterology Pathology and Clinical Biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Cazorla ÁG; Neurology, Gastroenterology Pathology and Clinical Biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Barić I; University Hospital Centre Zagreb, Zagreb, Croatia.; School of Medicine, University of Zagreb, Zagreb, Croatia.; Cvitanović-Šojat L; School of Medicine, University of Zagreb, Zagreb, Croatia.; Fumić K; University Hospital Centre Zagreb, Zagreb, Croatia.; Dali CI; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Bartoloni F; Fondazione Per la Ricerca Farmacologica Gianni Benzi Onlus, Via Abate Eustasio 30, 70010, Valenzano, BA, Italy.; Bonifazi F; Fondazione Per la Ricerca Farmacologica Gianni Benzi Onlus, Via Abate Eustasio 30, 70010, Valenzano, BA, Italy.; Scarpa M; Brains for Brain Foundation - onlus, Padova, Italy.; Department of Pediatric and Adolescent Medicine, Centre for Rare Diseases, Horst Schmidt Klinik Wiesbaden, Wiesbaden, Germany.; Ceci A; Fondazione Per la Ricerca Farmacologica Gianni Benzi Onlus, Via Abate Eustasio 30, 70010, Valenzano, BA, Italy.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

Cassis L; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Cortès-Saladelafont E; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Molero-Luis M; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Yubero D; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; González MJ; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Ormazábal A; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Fons C; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Jou C; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Sierra C; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Ponce EC; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Ramos F; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Armstrong J; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; O'Callaghan MM; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Casado M; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Montero R; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Meavilla-Olivas S; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Artuch R; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain.; Barić I; Department of Pediatrics, University Hospital Center Zagreb, Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia.; Bartoloni F; Gianni Benzi Pharmacological Research Foundation, Valenzano, BA, Italy.; Bellettato CM; Department of Women and Children Health, Brains for Brain Foundation, Padova, Italy.; Bonifazi F; Gianni Benzi Pharmacological Research Foundation, Valenzano, BA, Italy.; Ceci A; Gianni Benzi Pharmacological Research Foundation, Valenzano, BA, Italy.; Cvitanović-Šojat L; Department of Pediatrics, University Hospital Center Zagreb, Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia.; Dali CI; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; D'Avanzo F; Department of Women and Children Health, Brains for Brain Foundation, Padova, Italy.; Fumic K; Department of Pediatrics, University Hospital Center Zagreb, Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia.; Giannuzzi V; Gianni Benzi Pharmacological Research Foundation, Valenzano, BA, Italy.; Lampe C; Department of Women and Children Health, Brains for Brain Foundation, Padova, Italy.; Department of Pediatric and Adolescent Medicine, Centre for Rare Diseases, Horst Schmidt Klinik Wiesbaden, Wiesbaden, Germany.; Scarpa M; Department of Women and Children Health, Brains for Brain Foundation, Padova, Italy.; Department of Pediatric and Adolescent Medicine, Centre for Rare Diseases, Horst Schmidt Klinik Wiesbaden, Wiesbaden, Germany.; Department of Women's and Children's Health, University of Padova, Padova, Italy.; Garcia-Cazorla Á; Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain. agarcia@hsjdbcn.org.

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: PubMed not MEDLINE

Papi, A; Bellettato, CM; Braccioni, F; Romagnoli, M; Casolari, P; Caramori, G; Fabbri, LM; Johnston, SL

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE; MAY 15 2006, 173 10, p1114-p1121, 8p.