Natural history of propionic acidemia in the Amish population-Reference-Cited by-同舟云学术

Natural history of propionic acidemia in the Amish population

Published:2022-12 Issue: Volume:33 Page:100936
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Ehrenberg Sarah,Walsh Vockley Catherine,Heiman Paige,Ammous Zineb,Wenger Olivia,Vockley Jerry,Ghaloul-Gonzalez Lina

Funder

National Human Genome Research Institute

National Institutes of Health

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference32 articles.

1. Genetics, medicine, and the plain people;Strauss;Annu. Rev. Genomics Hum. Genet.,2009

2. Shchelochkov OA, Carrillo N, Venditti C. Propionic Acidemia. In: Adam MP, Ardinger HH, Pagon RA, et al., GeneReviews(®). Seattle (WA): University of Washington, Seattle.

3. Natural history of propionic acidemia;Pena;Mol. Genet. Metab.,2012

4. Mutations participating in interallelic complementation in propionic acidemia;Gravel;Am. J. Hum. Genet.,1994

5. Propionic acidemia: neonatal versus selective metabolic screening;Grünert;J. Inherit. Metab. Dis.,2012

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