Fumarase deficiency presenting with periventricular cysts.
J Inherit Metab Dis
; 28(5): 799-800, 2005.
Article
em En
| MEDLINE
| ID: mdl-16151915
ABSTRACT
A fumarase-deficient patient expressed a novel phenotype of congenital cerebral ventricular dilatation and periventricular cysts. The patient was a compound heterozygote for two mutations that are the only ones among the 12 published mutations that have been found in multiple, unrelated, fumarase-deficient patients.
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Coleções:
01-internacional
Temas:
Geral
/
Tipos_de_cancer
/
Outros_tipos
Base de dados:
MEDLINE
Assunto principal:
Cistos
/
Fumarato Hidratase
/
Erros Inatos do Metabolismo
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
J Inherit Metab Dis
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Holanda