Clinical application of NGS-based SNP haplotyping for PGT-M of methylmalonic acidemia
Author:
Affiliation:
1. Medical Genetics Centre, Northwest Women’s and Children’s Hospital, Xi’an, China
2. Assisted Reproduction Centre, Northwest Women’s and Children’s Hospital, Xi’an, China
Funder
Northwest Women and Children’s Hospital
Publisher
Informa UK Limited
Subject
Urology,Reproductive Medicine
Link
https://www.tandfonline.com/doi/pdf/10.1080/19396368.2021.2005718
Reference20 articles.
1. Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency
2. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
3. Mitochondrial dysfunction inmutmethylmalonic acidemia
4. Mutational spectrum of phenylketonuria in Jiangsu province
5. Methylmalonic and propionic acidemias: clinical management update
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