Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience
- Author
- GRIGORESCU SIDO, P1 ; DRUGAN, C2 ; CRET, V1 ; AL-KZOUZ, C1 ; DENES, C1 ; COLDEA, C1 ; ZIMMERMANN, A3
[1] st Pediatric Clinic, Iuliu Hatieganu University of Medicine and Pharmacy Cluj, 68 Motilor str., CP 494, of Cluj 1, 400370 Cluj, Romania
[2] Department of Biochemistry, Iuliu Hatieganu University of Medicine and Pharmacy Cluj, Cluj, Romania
[3] 1st Clinic of Internal Medicine, Department of Endocrinology and Metabolic Diseases, Johannes Gutenberg University of Mainz, Mainz, Germany - Source
Journal of inherited metabolic disease. 2007, Vol 30, Num 5, pp 783-789, 7 p ; ref : 3/4 p
- CODEN
- JIMDDP
- ISSN
- 0141-8955
- Scientific domain
- Genetics; Nutrition, obesity, metabolic disorders
- Publisher
- Springer, Dordrecht
- Publication country
- Netherlands
- Document type
- Article
- Language
- English
- Keyword (fr)
- Chimiothérapie Enzyme Enzymopathie Evolution Expérience Génétique Homme Lipide Malade Maladie héréditaire Métabolisme pathologie Nutrition Pronostic Sphingolipidose héréditaire Gaucher Traitement substitutif Type Roumanie Encéphale pathologie Lipoïdose Système nerveux central pathologie Système nerveux pathologie Europe
- Keyword (en)
- Chemotherapy Enzyme Enzymopathy Evolution Experience Genetics Human Lipids Patient Genetic disease Metabolic diseases Nutrition Prognosis Gaucher disease Replacement therapy Type Romania Cerebral disorder Lipoidosis Central nervous system disease Nervous system diseases Europe
- Keyword (es)
- Quimioterapia Enzima Enzimopatía Evolución Experiencia Genética Hombre Lípido Enfermo Enfermedad hereditaria Metabolismo patología Nutrición Pronóstico Esfingolipidosis hereditaria Gaucher Tratamiento sustitutivo Tipo Rumania Encéfalo patología Lipoidosis Sistema nervosio central patología Sistema nervioso patología Europa
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D02 Lipids (lysosomal enzyme disorders, storage diseases)
- Discipline
- Medical genetics Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 19147384
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1007/s10545-007-0621-z 
https://dx.doi.org/10.1007/s10545-007-0621-z
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