Molybdenum cofactor deficiency caused by / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 416-419, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-879869
ABSTRACT
A boy attended the hospital at the age of 1 month due to left hand tremor for 1 week. A blood test showed a reduction in serum uric acid and a cranial MRI showed encephalomalacia, atrophy, and cystic changes. The boy had microcephalus, unusual facial features (long face, long forehead, protruded forehead, long philtrum, low nasal bridge, facial swelling, and thick lower lip), hypertonia of lower extremities, and severe global developmental delay. Whole-exome sequencing performed for the boy detected a homozygous mutation, c.217C > T(p.R73W), in the
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ácido Úrico
/
China
/
Carbono-Carbono Liases
/
Erros Inatos do Metabolismo dos Metais
/
Mutação
Limite:
Humanos
/
Masculino
/
Recém-Nascido
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2021
Tipo de documento:
Artigo
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