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Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping.
Carmant, Laurence; Karalis, Aspasia; Rypens, Françoise; Oligny, Luc; Wavrant, Sandrine; Lapeyraque, Anne-Laure; Codsi, Elisabeth.
Afiliação
  • Carmant L; Department of Obstetrics and Gynecology CHU Ste-Justine Montreal QC Canada.
  • Karalis A; Department of Pediatrics Medical Genetics Service CHU Ste-Justine Montreal QC Canada.
  • Rypens F; Department of Medical Imaging CHU Ste-Justine Montreal QC Canada.
  • Oligny L; Department of Pathology CHU Ste-Justine Montreal QC Canada.
  • Wavrant S; Department of Obstetrics and Gynecology CHU Ste-Justine Montreal QC Canada.
  • Lapeyraque AL; Department of Pediatrics Nephrology Service CHU Ste-Justine Montreal QC Canada.
  • Codsi E; Department of Obstetrics and Gynecology CHU Ste-Justine Montreal QC Canada.
Clin Case Rep ; 9(3): 1101-1103, 2021 Mar.
Article em En | MEDLINE | ID: mdl-33768790
ABSTRACT
We know that glutaric aciduria type II is an inborn metabolism. This case report highlights that polycystic kidneys with hepatomegaly in prenatal ultrasound are suggestive of glutaric aciduria type II and it identifies a new variant as pathogenic.
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article