Ruixue Shuai

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening

Shiying Ling, Shengnan Wu, Ruixue Shuai et al. · Frontiers in Genetics · 2022 · 29 citations · Full text

Medicine, Genetics, Pediatrics +17

Different mutations in the <i>MMUT</i> gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study

Yue Yu, Ruixue Shuai, Lili Liang et al. · Molecular Genetics & Genomic Medicine · 2021 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A rare mutation c.1663G &gt; A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

Lili Liang, Ruixue Shuai, Yue Yu et al. · Orphanet Journal of Rare Diseases · 2021 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying &amp;lt;italic&amp;gt;&amp;lt;bold&amp;gt;MMACHC&amp;lt;/bold&amp;gt;&amp;lt;/italic&amp;gt; gene c.609G&amp;gt;A mutation

Yue Yu, Shiying Ling, Ruixue Shuai et al. · Journal of Zhejiang University (Medical Sciences) · 2021 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Evaluation of the clinical, biochemical, genotype and prognosis of <i>mut</i>-type methylmalonic acidemia in 365 Chinese cases

Lili Liang, Shiying Ling, Yue Yu et al. · Journal of Medical Genetics · 2023 · 10 citations

Life Sciences, Genetics, Molecular Genetics +16