Author

Lian-Shu Han

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Open access Sep 2026

Exploration of Metabolic Alterations in Methylmalonic Acidemia across Distinct Genetic Backgrounds

Methylmalonic acidemia (MMA) is a rare recessively inherited disorder mainly caused by variants in the MMUT and MMACHC genes, leading to the accumulation of methylmalonic acid. The pathophysiological mechanisms of MMA remain poorly understood, and treatments are symptomatic. This study investigated the comprehensive me...

Hai-Juan Zhi, Yi Ding, Yu-Xin Deng et al. · ACS Omega · 0 citations

Sep 2026

[Expert consensus on the diagnosis, exclusion, and follow-up for newborns with positive genetic screening results by next-generation sequencing (2026 Edition)].

The aim is to provide standardized and practical guidance for neonatal genetic screening, promote standardized and efficient screening practices, improve early diagnosis rates for genetic diseases, further optimize follow-up and management strategies, and improve the prognosis of patients.

Lian-Shu Han, Yong-Lan Huang, Jingkun Miao · Zhonghua yi xue yi chuan xue... · 0 citations