15 Result(s)

Article

Late-onset cblC defect: clinical, biochemical and molecular analysis

cblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset form (>1 year) are often misdiagnosed due to heterogeneous symptoms. This study aimed to describe clinical chara...

Si Ding, Shiying Ling, Lili Liang, Wenjuan Qiu… in Orphanet Journal of Rare Diseases (2023)

Article

Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency

This study aimed to describe the clinical, biochemical, and molecular characteristics of Chinese patients with holocarboxylase synthetase (HLCS) deficiency, and to investigate the mutation spectrum of HCLS def...

Shiying Ling, Wenjuan Qiu, Huiwen Zhang, Lili Liang… in Orphanet Journal of Rare Diseases (2023)

Article

Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type

Combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC defect) is the most common inborn error of cobalamin metabolism, and different approaches have been applied to its prenatal diagnosis....

Ting Chen, Lili Liang, Huiwen Zhang, Jun Ye… in Orphanet Journal of Rare Diseases (2021)

Article

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

Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, ...

Lili Liang, Ruixue Shuai, Yue Yu, Wenjuan Qiu… in Orphanet Journal of Rare Diseases (2021)

Article

Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency

This study aimed to describe the clinical and biochemical features of Chinese patients with ornithine transcarbamylase deficiency (OTCD), and to investigate the mutation spectrum of OTC gene and their potential c...

Deyun Lu, Feng Han, Wenjuan Qiu, Huiwen Zhang, Jun Ye… in Orphanet Journal of Rare Diseases (2020)

Article

Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies

Propionic acidemia (PA) is a serious metabolic disorder, and different approaches have been applied to its prenatal diagnosis. To evaluate the reliability and validity of a biochemical strategy in the prenatal...

Mengyao Dai, Bing **ao, Huiwen Zhang, Jun Ye… in Orphanet Journal of Rare Diseases (2020)

Article

Characteristics of Pompe disease in China: a report from the Pompe registry

Pompe disease is a rare, progressive, autosomal recessive lysosomal storage disorder caused by mutations in the acid α-glucosidase gene. This is the first report of Chinese patients from the global Pompe Regis...

Yuying Zhao, Zhaoxia Wang, Jiahong Lu, Xuefan Gu… in Orphanet Journal of Rare Diseases (2019)

Article

Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients

It has been reported that oxidation product of cholesterol, 7-ketocholesterol, increases in plasma of patients with NP-C. Previously, we established a rapid test to determine the plasma 7-ketocholesterol level...

Huiwen Zhang, Yu Wang, Na Lin, Rui Yang, Wenjuan Qiu… in Orphanet Journal of Rare Diseases (2014)

Article

Association of change on insulin-like growth factor (IGF)-i and IGF-binding protein 3 with genetic markers after a month of growth hormone (GH) therapy on Chinese children born with GH deficiency

Wei Wang, Shuixian Shen, ** Luo… in International Journal of Pediatric Endocri… (2013)

Article

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

Clinical observations and molecular analysis of the SMPD1 gene in Chinese patients with acid sphingomyelinase deficiency Niemann-Pick disease (NPD) are scarce.

Huiwen Zhang, Yu Wang, Zhuwen Gong, **aoyan Li… in Orphanet Journal of Rare Diseases (2013)

Article

Mutational Spectrum of Phenylketonuria in the Chinese Han Population: A Novel Insight into the Geographic Distribution of the Common Mutations

The absence of a comprehensive analysis for phenylketonuria (PKU) mutations in the Chinese Han population has resulted in continued studies during the past 18 y to elucidate the mutational spectrum in patients...

Tianwen Zhu, Shengying Qin, Jun Ye, Wenjuan Qiu, Lianshu Han… in Pediatric Research (2010)

Article

Differential Effects of Phenylalanine on Rac1, Cdc42, and RhoA Expression and Activity in Cultured Cortical Neurons

Phenylketonuria (PKU) is characterized by a high concentration of phenylalanine, which can lead to mental retardation. One of the characteristic pathologic changes in untreated phenylketonuria patients is a re...

Yongjun Zhang, Huiwen Zhang, **aobing Yuan, Xuefan Gu in Pediatric Research (2007)