부산대학교 도서관

Wang CM; Rare Diseases International, Plateforme Maladies Rares, 96 rue Didot, Paris, 75014, France. mary.wang@rarediseasesint.org.; Whiting AH; Rare Diseases International, Plateforme Maladies Rares, 96 rue Didot, Paris, 75014, France.; Rath A; INSERM, US14 - Orphanet, Plateforme Maladies Rares, 96 rue Didot, Paris, 75014, France.; Anido R; Federación Argentina de Enfermedades Poco Frecuentes, Antonino Ferrari 1044, 1424, Buenos Aires, Argentina.; Ardigò D; Chiesi Farmaceutici SpA, Via Paradigna 131/A, Parma, Italy.; Baynam G; Rare Care Centre, Western Australian Department of Health, Perth Children's Hospital and Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, WA, Australia.; Dawkins H; School of Medicine, The University of Notre Dame Australia (UNDA), 160 Oxford St, Darlinghurst, NSW, Australia.; Hamosh A; Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Blalock 1008, Baltimore, MD, 21287-4922, USA.; Le Cam Y; EURORDIS - Rare Diseases Europe, Plateforme Maladies Rares, 96 rue Didot, Paris, 75014, France.; Malherbe H; Rare Diseases South Africa, 63 Peter Place, Bryanston, Sandton, Johannesburg, South Africa.; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa.; Molster CM; Office of Population Health Genomics, West Australia Department of Health, Level 3, C Block, 189 Royal Street, East Perth, WA, 6004, Australia.; Monaco L; International Rare Disease Research Consortium (IRDiRC), Paris, France.; Padilla CD; Department of Pediatrics, College of Medicine, University of the Philippines Manila, Pedro Gil Street, Taft Ave, Ermita, Manila, 1000, Philippines.; Pariser AR; International Rare Disease Research Consortium (IRDiRC), Paris, France.; Robinson PN; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, 06032, USA.; Rodwell C; INSERM, US14 - Orphanet, Plateforme Maladies Rares, 96 rue Didot, Paris, 75014, France.; Schaefer F; European Rare Kidney Disease Reference Network (ERKNet), Medical Faculty Heidelberg, Heidelberg University, Im Neuenheimer Feld 130.3, 69120, Heidelberg, Germany.; Weber S; Department K - Code Systems and Registers, Federal Institute for Drugs and Medical Devices, Kurt-Georg- Kiesinger-Allee 3, D-53175, Bonn, Germany.; Macchia F; Rare Diseases International, Plateforme Maladies Rares, 96 rue Didot, Paris, 75014, 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

Mariani R; Chiesi Farmaceutici Spa, Largo Francesco Belloli 11/A, 43122, Parma, Italy. r.mariani@chiesi.com.; De Vuono MC; Chiesi Farmaceutici Spa, Largo Francesco Belloli 11/A, 43122, Parma, Italy.; Businaro E; Chiesi Farmaceutici Spa, Largo Francesco Belloli 11/A, 43122, Parma, Italy.; Ivaldi S; Chiesi Farmaceutici Spa, Largo Francesco Belloli 11/A, 43122, Parma, Italy.; Dell'Armi T; EVERSANA INTOUCH Healthware, Salerno, Italy.; Gallo M; EVERSANA INTOUCH Healthware, Salerno, Italy.; Ardigò D; Chiesi Farmaceutici Spa, Largo Francesco Belloli 11/A, 43122, Parma, Italy.

Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 101471195 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-1993 (Electronic) Linking ISSN: 11782595 NLM ISO Abbreviation: Pharmaceut Med Subsets: MEDLINE

Begley D; Blood-Brain Barrier Group, King's College London, Strand, London, UK.; Gabathuler R; Blood-Brain Barrier Group, King's College London, Strand, London, UK.; Pastores G; Medicine, University College Dublin, Belfield, Dublin, Ireland.; Garcia-Cazorla A; Neurometabolic Unit. Department of Neurology, Hospital Sant Joan de Déu, CIBERER and MetabERN, Barcelona, Spain.; Ardigò D; Chiesi Farmaceutici S.p.A, Parma, Italy.; Scarpa M; Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; Tomanin R; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Dept. of Women's and Children's Health, University of Padova, Padova, Italy.; Istituto di Ricerca Pediatrica Città della Speranza, Padova, Italy.; Tosi G; Nanotech Lab, Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy.

Publisher: Informa Healthcare Country of Publication: England NLM ID: 101228421 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-7593 (Electronic) Linking ISSN: 17425247 NLM ISO Abbreviation: Expert Opin Drug Deliv Subsets: MEDLINE

Jonker AH; IRDiRC, Paris, France. a.h.jonker@utwente.nl.; TechMed Centre, University of Twente, Hallenweg 5, Enschede, 7522 NH, The Netherlands. a.h.jonker@utwente.nl.; Batista L; IRDiRC, Paris, France.; Chiesi Farmaceutici S.p.A, Parma, Italy.; Gabaldo M; IRDiRC, Paris, France.; Fondazione Telethon, Milan, Italy.; Hivert V; IRDiRC, Paris, France.; EURORDIS-Rare Diseases Europe, Paris, France.; Ardigo D; IRDiRC, Paris, France.; Chiesi Farmaceutici S.p.A, Parma, Italy.

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

Del Rio D; Valtueña S; Pellegrini N; Bianchi MA; Ardigò D; Franzini L; Scazzina F; Monti L; Zavaroni I; Brighenti F

European Journal of Clinical Nutrition. Oct2009, Vol. 63 Issue 10, p1220-1225. 6p.

Valtueña S; Pellegrini N; Franzini L; Bianchi MA; Ardigò D; Del Rio D; Piatti P; Scazzina F; Zavaroni I; Brighenti F

American Journal of Clinical Nutrition; May2008, Vol. 87 Issue 5, p1290-1297, 8p

Valtueña S; Pellegrini N; Ardigò D; Del Rio D; Numeroso F; Scazzina F; Monti L; Zavaroni I; Brighenti F

American Journal of Clinical Nutrition; Jul2006, Vol. 84 Issue 1, p136-270, 12p

Brighenti F; Valtueña S; Pellegrini N; Ardigò D; Del Rio D; Salvatore S; Piatti P; Serafini M; Zavaroni I

British Journal of Nutrition; May2005, Vol. 93 Issue 5, p619-625, 7p

Hechtelt Jonker A; Hivert V; Gabaldo M; Batista L; O'Connor D; Aartsma-Rus A; Day S; Sakushima K; Ardigo D

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101124171 Publication Model: Print Cited Medium: Internet ISSN: 1474-1784 (Electronic) Linking ISSN: 14741776 NLM ISO Abbreviation: Nat Rev Drug Discov Subsets: MEDLINE

Phillips D; UNC Chapel Hill, Division of Physical Therapy, School of Medicine, Chapel Hill, NC, United States of America.; Hennermann JB; University Medical Centre Mainz, Dept. Pediatric and Adolescent Medicine, Villa Metabolica, Mainz, Germany.; Tylki-Szymanska A; Department of Paediatric, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.; Borgwardt L; Centre for Inherited Metabolic Diseases, Department of Paediatrics and Department of Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Gil-Campos M; Metabolism and Pediatric Research Unit, Reina Sofia University Hospital, IMIBIC, University of Cordoba, Unidad de Metabolismo e Investigación Pediátrica, Hospital Universitario Reina Sofía, Universidad de Córdoba, CIBERObn, Córdoba, Spain.; Guffon N; Reference Center for Inherited Metabolic Diseases, Femme Mere Enfant Hospital, Lyon, France.; Amraoui Y; SphinCS GmbH, Clinical Science for LSD, Hochheim, Germany.; Geraci S; Chiesi Farmaceutici S.p.A, Parma, Italy.; Ardigò D; Chiesi Farmaceutici S.p.A, Parma, Italy.; Cattaneo F; Chiesi Farmaceutici S.p.A, Parma, Italy.; Lund AM; Centre for Inherited Metabolic Diseases, Department of Paediatrics and Department of Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE