Concurrent combined methylmalonic acidemia and homocystinuria with down syndrome in a Chinese preschool Child: An in-depth case report and literature review-Reference-Cited by-同舟云学术

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Concurrent combined methylmalonic acidemia and homocystinuria with down syndrome in a Chinese preschool Child: An in-depth case report and literature review

Published:2024-07 Issue:13 Volume:10 Page:e33457
ISSN:2405-8440
Container-title:Heliyon
language:en
Short-container-title:Heliyon

Author:

Dong Rui^ORCID,Liu Chen,Liu Yulin,Zhang Haiyan,Liu Guohua,Liu Yi,Gai Zhongtao

Publisher

Elsevier BV

Reference17 articles.

1. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders;Yang;N. Engl. J. Med.,2013

2. Down syndrome;Bull;N. Engl. J. Med.,2020

3. The impact of sleep problems on functional and cognitive outcomes in children with Down syndrome: a review of the literature;Chawla;J. Clin. Sleep Med.,2020

4. Resolution of disease phenotypes resulting from multilocus genomic variation;Posey;N. Engl. J. Med.,2017

5. Resolving misalignment interference for NGS-based clinical diagnostics;Lee;Hum. Genet.,2021

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