1.
J Pediatr
; 193: 256-260, 2018 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29249525
RESUMO
The diagnosis of Barth syndrome is challenging owing to the wide phenotypic spectrum with allelic heterogeneity. Here we report 3 cases of Barth syndrome with phenotypic and allelic heterogeneity that were diagnosed by different approaches, including whole exome sequencing and final confirmation by reverse-transcription polymease chain reaction.
Assuntos
Síndrome de Barth/diagnóstico , Fatores de Transcrição/genética , Aciltransferases , Síndrome de Barth/genética , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Fenótipo , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Sequenciamento do Exoma/métodos
2.
J Pediatr
; 145(2): 259-62, 2004 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15289781
RESUMO
Nitric oxide (NO) levels in plasma and urine were determined in 5 girls with ornithine transcarbamylase deficiency (OTCD) of late-onset type, who often developed migraine-like headache or vomiting. The patients were found to have low NO synthesis, suggesting that the low NO synthesis contributes to the clinical manifestations of urea cycle defect.