Homozygous NADH-methemoglobin reductase and aspartylglucosaminidase deficiencies in a moderately retarded Sicilian child.
Am J Med Genet
; 19(4): 643-50, 1984 Dec.
Article
em En
| MEDLINE
| ID: mdl-6517093
ABSTRACT
We report on a 10-year-old boy with generalized deficiency of both NADH-methemoglobin reductase and aspartylglucosaminidase. Although the two enzymatic defects, both autosomal recessive traits, are associated with severe mental retardation, the patient was less retarded than his sister who had only aspartylglucosaminuria.
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Base de dados:
MEDLINE
Assunto principal:
Citocromo-B(5) Redutase
/
Aspartilglucosaminúria
/
Amidoidrolases
/
Deficiência Intelectual
/
Metemoglobinemia
/
NADH NADPH Oxirredutases
Limite:
Adult
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1984
Tipo de documento:
Article