Lianshu Han

Analysis of homocysteine levels in carriers with MMACHC gene variants

Yi Ding, Yuxin Deng, 支海娟, Xia Zhan et autres

OBJECTIVE: Variants in the MMACHC gene cause combined methylmalonic acidemia (MMA) and homocystinuria, cobalamin C (cblC) type. This study aimed to determine whether heterozygous MMACHC variant carriers exhibit elevated plasma homocysteine (Hcy) levels and to explore the variant-type-specific biochemical effects. METHODS: In …

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Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China

Kaichuang Zhang, Deyun Lu, Lili Liang, Yi Yang et autres

BACKGROUND: Argininosuccinate lyase deficiency (ASLD) is a rare autosomal recessive urea cycle disorder (UCD) resulting from mutations in the ASL gene. Previous studies of ASLD in patients from China have predominantly been limited to individual case reports, lacking comprehensive cohort study. This …

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SAT-190 Efficacy And Safety Of Weekly PEGylated Recombinant Human Growth Hormone (Jintrolong) In Prepubertal Children With Turner Syndrome: 3-year Results From A Multicenter, Randomized Study In China

Jiajia Chen, Yi Lv, Hongwei Du, Yaping Ma et autres

Abstract Disclosure: J. Chen: None. Y. Lv: None. H. Du: None. Y. Ma: None. L. Han: None. F. Luo: None. G. Li: None. L. Chen: None. B. Cao: None. M. Qin: None. C. Su: None. L. Wei: None. Q. Wang: None. P. …

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Analysis of hydroxocobalamin dosage in patients with CblC deficiency

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

OBJECTIVE: cblC deficiency is the most common organic acidemia in China. Hydroxocobalamin (OHCbl) is the main important therapeutic approach, while no approved protocols on its dosage during stable periods exist. This study aims to analyze OHCbl dosage and explore its influencing factors, …

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[Analysis of clinical characteristics and NF1 gene variants in a child with Neurofibroma-Noonan syndrome].

Pingping Wang, Lianshu Han, Suhong Yang, Jianmei Zhang et autres

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with Neurofibromatosis-Noonan syndrome (NFNS). METHODS: A child with NFNS who was treated at the Department of Endocrinology of Hangzhou Children's Hospital in January 2024 was selected as the study subject. …

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Inhibition of Lysine on Expression of Genes Encoding Type Iii Secretion System and Infection Process of Ralstonia Pseudosolanacearum on Host Plants

Lianshu Han, Ruijun Li, Jiajun Huang, Xiao Xia et autres

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Metabolomic Architecture of Methylmalonic Acidemia and Metabolic Dysfunction Uncovers Biological Pathways Related to Specific Genetic Variant Sites

Haijuan Zhi, Yuxin Deng, Yi Ding, Lianshu Han et autres

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Newborn Genomic Screening Detects Chromosomal Aneuploidies

Xiao Hua Wang, Dongxia Hou, Meng Sun, Jiale Xiang et autres

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Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes

Lili Hao, Shiying Ling, Si Ding, Wen-juan Qiu et autres

BACKGROUND: Methylmalonic acidemia (MMA) is the most common organic acidemia in China, with cblC (cblC-MMA) and mut (mut-MMA) being the predominant subtypes. The present study aimed to investigate the prognostic manifestations and their possible influence in patients with these two subtypes. METHODS: …

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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

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

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Newborn Screening for 6 Lysosomal Storage Disorders in China

Siyu Chang, Xia Zhan, Yuchao Liu, Huanlei Song et autres

Importance: Newborn screening (NBS) for lysosomal storage disorders (LSDs) is becoming an increasing concern in public health. However, the birth prevalence of these disorders is rarely reported in the Chinese population, and subclinical forms of diseases among patients identified by NBS have …

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Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants

Jianmei Zhang, Suhong Yang, Yan Zhang, Fei Liu et autres

Background: This study aimed to characterize the clinical phenotype and genetic variations in patients with Kallmann syndrome (KS). Methods: This study involved the collection and analysis of clinical data from an individual with sporadic KS. Following this, peripheral blood samples were obtained …

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