Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.
Neurology
; 65(4): 606-8, 2005 Aug 23.
Article
em En
| MEDLINE
| ID: mdl-16116126
Coenzyme Q10 (CoQ10) deficiency has been associated with various clinical phenotypes, including an infantile multisystem disorder. The authors report a 33-month-old boy who presented with corticosteroid-resistant nephrotic syndrome in whom progressive encephalomyopathy later developed. CoQ10 was decreased both in muscle and in fibroblasts. Oral CoQ10 improved the neurologic picture but not the renal dysfunction.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ubiquinona
/
Encefalomiopatias Mitocondriais
/
Nefropatias
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Screening_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Neurology
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Itália
País de publicação:
Estados Unidos