Lianshu Han

Hydroxocobalamin monotherapy in patients with cblC deficiency: Biochemical analysis and clinical observations

Si Ding, Lili Hao, Yi Ding, Yuxin Deng et autres

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Efficacy and organ protective effects of continuous renal replacement therapy in children with organic acidemia complicated by decompensated acidosis: a retrospective study in PICU

Lili Xing, Y. Zhu, Lianshu Han, Lili Xu et autres

BACKGROUND: Metabolic decompensation is life-threatening in children with organic acidemia (OA). This study aims to evaluate the efficacy of continuous renal replacement therapy (CRRT) in treating patients with OA complicated by decompensated metabolic acidosis in pediatric intensive care units (PICU) and to …

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Variable phenotypes and outcomes associated with the MMACHC c.1A>G variant in Chinese patients with combined methylmalonic acidemia and homocystinuria cblC type

Lili Hao, Yuxin Deng, Si Ding, Wenjuan Qiu et autres

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Long-term outcome of CblC deficiency complicated with pulmonary hypertension

Si Ding, Yuxin Deng, Lili Hao, Wen-juan Qiu et autres

OBJECTIVE: Pulmonary Hypertension (PH) in patients with cblC deficiency is one of the rare but lethal complications. This study aimed to described its characteristics and long-term outcome. METHODS: A total of 26 patients with cblC deficiency complicated by PH were enrolled. Clinical …

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Long-acting pegylated growth hormone in prepubertal children with turner syndrome: a 3-year multicenter study in China

Yi Lv, Hongwei Du, Yaping Ma, Lianshu Han et autres

Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China

Ye Liang, Yinhong Zhang, Jizhen Feng, Cidan Huang et autres

Newborn congenital hypothyroidism (CH) screening has been widely used worldwide. The objective of this study was to evaluate the effectiveness of applying biochemical and gene panel sequencing as screening tests for CH and to analyze the mutation spectrum of CH in China. …

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Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort

Ruifang Wang, Xiaomei Luo, Yu Sun, Lili Liang et autres

CONTEXT: Genetic testing for 21-hydroxylase deficiency (21-OHD) is always challenging. The current approaches of short-read sequencing and multiplex ligation-dependent probe amplification (MLPA) are insufficient for the detection of chimeric genes or complicated variants from multiple copies. Recently developed long-read sequencing (LRS) can …

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Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China

Shiying Ling, Shengnan Wu, Ruixue Shuai, Yue Yu et autres

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In utero exposure to perfluoroalkyl substances and early childhood BMI trajectories: A mediation analysis with neonatal metabolic profiles

Xiaojing Zeng, Ting Chen, Yidan Cui, Jian Zhao et autres

BACKGROUND: In utero perfluoroalkyl substances (PFAS) exposure has been associated with childhood adiposity, but the mechanisms are poorly known. OBJECTIVE: To investigate the potential mediating role of neonatal metabolites in the relationship between prenatal PFAS exposure and childhood adiposity trajectories in the …

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The follow-up of Chinese patients in mut-type methylmalonic acidemia identified through expanded newborn screening

Shiying Ling, Shengnan Wu, Ruixue Shuai, Yue Yu et autres

Background : Isolated methylmalonic acidemia (MMA), an autosomal recessive disorder of propionate metabolism, is usually caused by mutations in the methylmalonyl-CoA mutase gene (mut-type MMA). Because no universal consensus was made on whether mut-type MMA should be included in newborn screening (NBS), …

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A rare mutation c.1663G>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, Wenjuan Qiu et autres

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Noninvasive prenatal test of methylmalonic academia cblC type through targeted sequencing of cell-free DNA in maternal plasma

Lianshu Han, Chao Chen, Fengyu Guo, Jun Ye et autres

Abstract Methylmalonic acidemia (MMA) cblC type is the most frequent inborn error of intracellular cobalamin metabolism which is caused by mutations of MMACHC gene. Non-invasive test of MMA for pregnant women facilitates safe and timely prenatal diagnosis of the disease. In our …

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