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المؤلفون: Bolton SC, Soran V, Pineda M, Imrie J, Gissen P, Jahnova H, Sharma R, Jones S, Santra S, Crushell E, Stampfer M, Coll MJ, Dawson C, Mathieson T, Green J, Dardis A, Bembi B, Patterson MC, Vanier MT, Geberhiwot T
المصدر: ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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المؤلفون: Patterson MC, Mengel E, Vanier MT, Moneuse P, Rosenberg D, Pineda M
المصدر: ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déuمصطلحات موضوعية: Niemann-Pick disease type C, NPC disease registry, Miglustat, Natural history, Neurological symptoms, Treatment evaluation, Safety, Disease course, Tolerability
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المؤلفون: Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Pineda M, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M, International Niemann-Pick Disease Registry (INPDR)
المصدر: ORPHANET JOURNAL OF RARE DISEASES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuمصطلحات موضوعية: Diagnosis, NPC, Management, Niemann-Pick Type C, Guidelines
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المؤلفون: Patterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, Pineda M
المصدر: ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu -
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المؤلفون: E D Carstea, Roscoe O. Brady, Peter G. Pentchev, Ehud Goldin, E J Blanchette-Mackie, Calvin F. Roff, Vanier Mt, Colette C. Parker
المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1225:235-243
مصطلحات موضوعية: medicine.medical_specialty, Biology, Intracellular cholesterol transport, Lesion, chemistry.chemical_compound, Lysosome, Internal medicine, medicine, Animals, Humans, Distribution (pharmacology), Molecular Biology, Niemann-Pick Diseases, Ldl cholesterol, Cholesterol, Biological Transport, Cholesterol, LDL, Fibroblasts, medicine.disease, medicine.anatomical_structure, Endocrinology, Liver, Receptors, LDL, chemistry, Molecular Medicine, Cholesterol Esters, medicine.symptom, Niemann–Pick disease, Intracellular, Subcellular Fractions
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المؤلفون: Odièvre M, Vanier Mt, Roset F, Pierre Bedossa, P. Huguet, Philippe Labrune
المصدر: Journal of Pediatric Gastroenterology and Nutrition. 13:104-109
مصطلحات موضوعية: Liver Cirrhosis, Male, Niemann-Pick Diseases, Pathology, medicine.medical_specialty, Niemann-Pick disease type B, Cirrhosis, business.industry, Gastroenterology, Liver failure, Autopsy, Disease, medicine.disease, Hemolysis, Liver, Child, Preschool, Pediatrics, Perinatology and Child Health, medicine, Humans, Female, Complication, Niemann–Pick disease, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::520eaed06f4dcba4772157ec6a7baa85
https://doi.org/10.1097/00005176-199107000-00020 -
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المؤلفون: Sevin, C, Colle, Marie-Anne, Benraiss, A, Darmon, Christine, Fouquet, F, Joussemet, Béatrice, Cherel, Yan, Dedeyn, P, Vanier, Mt, Moullier, P, Aubourg, P, Cartier, N
المساهمون: Inconnu, ProdInra, Migration
المصدر: 14th Annual Congress of the European Society of Gene Therapy
14th Annual Congress of the European Society of Gene Therapy, 2006, Athens, Greece. pp.Inconnuمصطلحات موضوعية: [SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio]
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3422b82cecb5b1e2124493a27282aeae
https://hal.inrae.fr/hal-02818652 -
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المؤلفون: Ellinwood, N, Verot, L, Colle, Marie-Anne, Giger, U, Vanier, Mt, Haskins, Me
المساهمون: ProdInra, Migration, Inconnu
المصدر: Annual meeting of the American Society of Human Genetics
Annual meeting of the American Society of Human Genetics, 2004, Toronto, Canada. pp.Inconnu
Annual Meeting of the American Society of Human Genetics
Annual Meeting of the American Society of Human Genetics, 2004, Toronto, Canada. pp.Inconnuمصطلحات موضوعية: [SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio]
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::89506907db1223cd7f4ebf901242a78c
https://hal.inrae.fr/hal-02833046 -
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المؤلفون: Ellinwood, NM, Colle, Marie-Anne, Weil, M, Casal, M, Vite, C, Weimelt, S, Hasson, C, O’Malley, T, He, Xiahong, Prociuk, U, Verot, L, Melniczek, JR, Lannon, A, Aguirre, GA, Knox, VW, Evans, SM, Vanier, MT, Walkley, SU, Schuchman, E, Haski, ME
المساهمون: ProdInra, Migration, Inconnu
المصدر: Société française de Neuropathologie
Société française de Neuropathologie, 2004, Paris, France. pp.Inconnuمصطلحات موضوعية: [SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio]
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e32056f903d56662a058079298eae9b4
https://hal.inrae.fr/hal-02826687 -
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المؤلفون: Ellinwood, NM, Verot, L, Colle, Marie-Anne, Giger, U, Vanier, MT, Haskins, ME
المساهمون: ProdInra, Migration, Inconnu
المصدر: 8th International Symposium on Mucopolysaccharide and Related Diseases
8th International Symposium on Mucopolysaccharide and Related Diseases, 2004, Rheingoldhalle Mainz, Germany. pp.Inconnu
NIH symposium
NIH symposium, 2004, Washington, United States. pp.Inconnuمصطلحات موضوعية: [SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio]
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::17201234848d5ab40c15d17c0d892e60
https://hal.inrae.fr/hal-02828102
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