Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.
J Pediatr
; 155(6): 924-7, 2009 Dec.
Article
en En
| MEDLINE
| ID: mdl-19914430
ABSTRACT
A symptom-free woman gave birth to a girl with a low carnitine level on newborn screening. The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B(12) metabolism (late-onset form). This patient with cblC was detected through her infant's newborn screening.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trastornos Puerperales
/
Carnitina
/
Tamizaje Neonatal
/
Homocistinuria
Tipo de estudio:
Diagnostic_studies
/
Screening_studies
Límite:
Adult
/
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
J Pediatr
Año:
2009
Tipo del documento:
Article
País de afiliación:
Estados Unidos