Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity
- Author
- WATKINS, D1 ; ROSENBLATT, D. S
[1] McGill univ., dep. medicine, Montreal PQ H3A 1A1, Canada - Source
American journal of medical genetics. = Neuropsychiatric genetics. 1989, Vol 34, Num 3, pp 427-434 ; ref : 29 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Aminoacidopathie Analyse biochimique Anémie mégaloblastique Déficit Enzyme Homme Homocystinurie Hémopathie Hétérogénéité Maladie héréditaire Métabolisme pathologie Méthionine O-Acetylhomoserine (thiol)-lyase Symptomatologie Hypométhioninémie
- Keyword (en)
- Aminoacid disorder Biochemical analysis Megaloblastic anemia Deficiency Enzyme Human Homocystinuria Hemopathy Heterogeneity Genetic disease Metabolic diseases Methionine O-Acetylhomoserine (thiol)-lyase Symptomatology
- Keyword (es)
- Aminoacido alteración Análisis bioquímico Anemia megaloblástica Déficiencia Enzima Hombre Homocistinuria Hemopatía Heterogeneidad Enfermedad hereditaria Metabolismo patología Metionina O-Acetylhomoserine (thiol)-lyase Sintomatología
- 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
- 6621953
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
10.1002/ajmg.1320340320 
https://dx.doi.org/10.1002/ajmg.1320340320
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