Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping

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.

Detalles Bibliográficos
Autores principales: Carmant, Laurence, Karalis, Aspasia, Rypens, Françoise, Oligny, Luc, Wavrant, Sandrine, Lapeyraque, Anne‐Laure, Codsi, Elisabeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981664/
https://www.ncbi.nlm.nih.gov/pubmed/33768790
http://dx.doi.org/10.1002/ccr3.3663

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