Huiwen Zhang

Summary

Publications

  1. pmc Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease
    Huiwen Zhang
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Kongjiang Road 1665, Shanghai, 200092, China
    Orphanet J Rare Dis 8:15. 2013
  2. doi request reprint Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome
    Huiwen Zhang
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China
    Eur J Med Genet 54:e389-93. 2011
  3. pmc Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing
    Huiwen Zhang
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China
    PLoS ONE 6:e22951. 2011
  4. doi request reprint [Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I]
    Nan Yang
    Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute of Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 29:648-52. 2012
  5. doi request reprint Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China
    Fei Wang
    Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China
    J Inherit Metab Dis 33:435-42. 2010
  6. doi request reprint Analysis of gene mutations in Chinese patients with maple syrup urine disease
    Nan Yang
    Department of Pediatric Endocrinology, Genetic and Metabolic Disease, Shanghai Institute of Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
    Mol Genet Metab 106:412-8. 2012
  7. doi request reprint Application of liquid chromatography-tandem mass spectrometry in the diagnosis and follow-up of maple syrup urine disease in a Chinese population
    Na Lin
    Shanghai Institute for Pediatric Research, Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiatong University School of Medicine, Shanghai, China
    J Pediatr Endocrinol Metab 26:433-9. 2013
  8. doi request reprint A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency from two unrelated Chinese pedigrees
    Huiwen Zhang
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China
    Horm Res Paediatr 74:98-105. 2010
  9. doi request reprint Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease
    Huiwen Zhang
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China
    Brain Dev 32:879-82. 2010
  10. pmc Impaired glucose tolerance in a mouse model of sidt2 deficiency
    Jialin Gao
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China
    PLoS ONE 8:e66139. 2013

Collaborators

  • Yu Wang
  • Jing Li
  • Xuefan Gu
  • Nan Yang
  • Jun Ye
  • Wenjuan Qiu
  • Lianshu Han
  • Jialin Gao
  • Na Lin
  • Yafen Zhang
  • Fei Wang
  • Lili Liang
  • Zhugang Wang
  • Don J Mahuran
  • Wen juan Qiu
  • Ya Fen Zhang
  • Zhu Wen Gong
  • Xue Fan Gu
  • Zhuwen Gong
  • Lian Shu Han
  • Yanling Yang
  • Xiaolan Gao

Detail Information

Publications11

  1. pmc Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease
    Huiwen Zhang
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Kongjiang Road 1665, Shanghai, 200092, China
    Orphanet J Rare Dis 8:15. 2013
    ..Clinical observations and molecular analysis of the SMPD1 gene in Chinese patients with acid sphingomyelinase deficiency Niemann-Pick disease (NPD) are scarce...
  2. doi request reprint Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome
    Huiwen Zhang
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China
    Eur J Med Genet 54:e389-93. 2011
    ..The determination of the deletion breakpoints by Illumina genome-wide DNA analysis beadchip showed that the deletion spanned 2.82 Mb in size. This case adds to the mutation spectrum of this DNA repair disorder...
  3. pmc Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing
    Huiwen Zhang
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China
    PLoS ONE 6:e22951. 2011
    ..It is the prevailing form of the mucopolysaccharidoses in China. Here we investigated mutations of IDS (iduronate 2-sulfatase) gene in 38 unrelated Chinese patients, one of which is a female...
  4. doi request reprint [Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I]
    Nan Yang
    Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute of Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 29:648-52. 2012
    ..To analyze clinical data and gene mutations in 3 Chinese patients with tyrosinemia type I, and to explore the correlation between genotypes and phenotypes...
  5. doi request reprint Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China
    Fei Wang
    Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China
    J Inherit Metab Dis 33:435-42. 2010
    ..Besides traditional approaches consisting of hydroxocobalamin injections, carnitine, betaine, and protein restriction, novel drugs that target premature termination codons may have a role in the future. ..
  6. doi request reprint Analysis of gene mutations in Chinese patients with maple syrup urine disease
    Nan Yang
    Department of Pediatric Endocrinology, Genetic and Metabolic Disease, Shanghai Institute of Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
    Mol Genet Metab 106:412-8. 2012
    ..The aim of this study was to screen DNA samples from 16 Chinese MSUD patients and assess a potential correlation between genotype and phenotype...
  7. doi request reprint Application of liquid chromatography-tandem mass spectrometry in the diagnosis and follow-up of maple syrup urine disease in a Chinese population
    Na Lin
    Shanghai Institute for Pediatric Research, Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiatong University School of Medicine, Shanghai, China
    J Pediatr Endocrinol Metab 26:433-9. 2013
    ..We investigated whether liquid chromatography-tandem mass spectrometry (LC-MS/MS) is a more reliable and accurate method than MS/MS in the diagnosis and management of patients with MSUD in a Chinese population...
  8. doi request reprint A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency from two unrelated Chinese pedigrees
    Huiwen Zhang
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China
    Horm Res Paediatr 74:98-105. 2010
    ..Familial combined pituitary hormone deficiency (CPHD) appears to have a genetic cause, PROP1 gene mutations being the most common one. We investigated whether PROP1 plays a role in two Chinese familial cases of CPHD...
  9. doi request reprint Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease
    Huiwen Zhang
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China
    Brain Dev 32:879-82. 2010
    ..We report two novel mutations: c.2T>C/M1T, an initiation codon mutation, and c.209A>G/N70S, which is located at the enzyme-substrate binding site. The combination of these two mutations resulted in a congenital form of Canavan disease...
  10. pmc Impaired glucose tolerance in a mouse model of sidt2 deficiency
    Jialin Gao
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China
    PLoS ONE 8:e66139. 2013
    ..In conclusion, Sidt2 may play a critical role in the regulation of mouse insulin secretory granule secretion...
  11. doi request reprint Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance
    Lili Liang
    Department of Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China
    Acta Paediatr 98:1365-8. 2009
    ..To describe two Chinese siblings of atypical Hutchinson-Gilford progeria syndrome (HGPS), with genetic diagnosis and special clinical manifestation...