Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.
Neurology
; 64(7): 1255-7, 2005 Apr 12.
Article
en En
| MEDLINE
| ID: mdl-15824356
ABSTRACT
Three unrelated adult patients with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase (GLDC) mutations; two novel missense mutations (A389V and R739H) were found. Both mutations had a 6 to 8% of normal GLDC activities when expressed in COS7 cells.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Encéfalo
/
Mutación Missense
/
Hiperglicinemia no Cetósica
/
Glicina-Deshidrogenasa (Descarboxilante)
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Animals
/
Humans
/
Male
Idioma:
En
Revista:
Neurology
Año:
2005
Tipo del documento:
Article
País de afiliación:
Estados Unidos