Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cbIE disease)
- Author
- FOWLER, B1 ; SCHUTGENS, R. B. H2 ; ROSENBLATT, D. S3 ; SMIT, G. P. A4 ; LINDEMANS, J5
[1] Basel University Children's Hospital, Basel, Switzerland
[2] Department of Pediatrics, University of Amsterdam, Amsterdam, Netherlands
[3] Division of Medical Genetics, Department of Medicine, McGill University, Montreal, Quebec, Canada
[4] Department of Pediatrics, University Hospital of Groningen, Netherlands
[5] Clinical Chemistry, Erasmus University Rotterdam, Rotterdam, Netherlands - Source
Journal of inherited metabolic disease. 1997, Vol 20, Num 6, pp 731-741 ; ref : 1 p.3/4
- 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)
- Acide folique Adolescent Association Cofacteur Dose forte Déficit fonctionnel Déterminisme génétique Enfant Etude cas Folate Forme clinique Homocystinurie O-Acetylhomoserine (thiol)-lyase Traitement substitutif Vitamine Aminoacidopathie Carbon-oxygen lyases Encéphale pathologie Enzyme Enzymopathie Homme Lyases Maladie héréditaire Métabolisme pathologie Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Folic acid Adolescent Association Cofactor High dose Functional deficit Genetic determinism Child Case study Folate Clinical form Homocystinuria O-Acetylhomoserine (thiol)-lyase Replacement therapy Vitamin Aminoacid disorder Carbon-oxygen lyases Cerebral disorder Enzyme Enzymopathy Human Lyases Genetic disease Metabolic diseases Central nervous system disease Nervous system diseases
- Keyword (es)
- Acido fólico Adolescente Asociación Cofactor Dosis fuerte Deficiencia funcional Determinismo genético Niño Estudio caso Folato Forma clínica Homocistinuria O-Acetylhomoserine (thiol)-lyase Tratamiento sustitutivo Vitamina Aminoacido alteración Carbon-oxygen lyases Encéfalo patología Enzima Enzimopatía Hombre Lyases Enfermedad hereditaria Metabolismo patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D01 Aminoacid disorders
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2080323
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
10.1023/A:1005372730310 
https://dx.doi.org/10.1023/A:1005372730310
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