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Non-ketotic hyperglycinemia- A typical case detected in a screening program for inborn errors of metabolism
Oliveira, Maria Lúcia C; Oliveira, Cesário P. H; Simoni, Ruth E; Grassiano, Denise M; Arnaldo, Catarina F; Azevedo, Leonardo C; Borbosa Neto, Joäo G.
Rev. bras. genét ; 16(1): 237-44, mar. 1993. tab, ilus
Article in En | LILACS | ID: lil-135326
Responsible library: BR26.1
RESUMO
Apresentamos um caso típico de hiperglicinemia näo-cetótica neonatal (McKusick 23830) detectado em um programa de triagem para erros inatos do metabolismo realizado no Rio de Janeiro e confirmado por análises que caracterizam os sintomas específicos desse distúrbio. Dados clínicos e características bioquímicas säo descritos e comparados com casos previamente relatados
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Collection: 01-internacional Database: LILACS Main subject: Genetic Testing / Chromatography, Paper / Amino Acids / Glycine / Metabolism, Inborn Errors Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Child / Humans / Infant / Male / Newborn Country/Region as subject: America do sul / Brasil Language: En Journal: Rev. bras. genét Journal subject: GENETICA / HISTOLOGIA Year: 1993 Document type: Article Country of publication: Brazil
Search on Google
Add to My VHL
Print
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Collection: 01-internacional Database: LILACS Main subject: Genetic Testing / Chromatography, Paper / Amino Acids / Glycine / Metabolism, Inborn Errors Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Child / Humans / Infant / Male / Newborn Country/Region as subject: America do sul / Brasil Language: En Journal: Rev. bras. genét Journal subject: GENETICA / HISTOLOGIA Year: 1993 Document type: Article Country of publication: Brazil