Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review

Author:

Chen Yunxi,Zhang Qinghua,Cao Lei,Feng Xuan,Lin Pengwu,Zhu Shaohua,Liu Furong,Wang Xing,Hao Shengju,Cao Yafei,Wang Hongyan,Ni Yali

Publisher

Elsevier BV

Reference33 articles.

1. Biochemical, molecular, and clinical features of patients with glutaric acidemia type 1 identified through large-scale newborn screening in Zhejiang Province, China [J];Lin;Clin. Chim. Acta,2022

2. Expert consensus for the diagnosis and treatment of glutaricacidemia type 1;Han;Zhonghua Yi Xue Yi Chuan Xue Za Zhi,2021

3. Analysis of CGDH gene variants and clinical features in three patients with glutaric aciduria type I;Tan;Zhonghua Yi Xue Yi Chuan Xue Za Zhi,2019

4. The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis [J];Ma;Orphanet J. Rare Dis.,2024

5. Late-onset multiple acyl-CoA dehydrogenase deficiency: an insidious presentation [J];Rao;BMJ Case Rep.,2023

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