Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: a twelve-year experience.
Clin Biochem
; 46(18): 1787-92, 2013 Dec.
Article
em En
| MEDLINE
| ID: mdl-23994778
Palavras-chave
2-hydroxyglutaric aciduria; 2HGA; 6-PTS; 6-pyruvoyl- tetrahydrobiopterin synthase; AA; AUBMC; American University of Beirut Medical Center; Amino acid chromatography; Aminoacidopathies; CSF; Cb1 ad; Cb1 b; D; DHPR; GA II; GC/MS; GTP; HCY; HPLC; IEM; Inborn errors of metabolism; M; MMA; MS/MS; MSUD; NBS; Newborn screening; OA; OTC; Organic acid chromatography; Organic acidemias; PA; PKU; Saint Joseph University; UCD; UPLC; USJ; Y; aminoacidopathies; cerebrospinal fluid (CSF); cobalamin ad deficiency; cobalamin b deficiency; days; dihydropteridine reductase; gas chromatography mass spectrometry; glutaric aciduria type II; guanosine 5 triphosphate cyclohydrolase; high performance liquid chromatography; homocystinuria; inborn errors of metabolism; maple syrup urine disease; methylmalonic acidemia; months; newborn screening; organic acidemias; ornithine transcarbamylase; phenylketonuria; propionic acidemia; tandem mass spectrometry; ultra performance liquid chromatography; urea cycle defects; years
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Erros Inatos do Metabolismo dos Aminoácidos
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
/
Infant
/
Newborn
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article