Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.
Mol Genet Metab
; 110(3): 218-21, 2013 Nov.
Article
en En
| MEDLINE
| ID: mdl-23993429
Palabras clave
AdoMet/SAM; DQs; Developmental quotients; Homocysteine; MAT; MSCA; McCarthy Scales of Children's Abilities; Methionine adenosyltransferase; NBS; Newborn screening; Persistent hypermethioninemia; S-adenosylmethionine; WISC; Wechsler intelligence scale for children; newborn screening; tHcy; total homocysteine
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Errores Innatos del Metabolismo de los Aminoácidos
/
Metionina Adenosiltransferasa
Tipo de estudio:
Clinical_trials
/
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Límite:
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Mol Genet Metab
Asunto de la revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Año:
2013
Tipo del documento:
Article
País de afiliación:
España