Huiwen Zhang

Summary

Publications

  1. pmc Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients
    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
    Orphanet J Rare Dis 9:82. 2014
  2. 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
  3. 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
  4. ncbi 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:S435-42. 2010
  5. 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
  6. 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
  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 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
  9. pmc Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease
    Na Lin
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China
    J Lipid Res 55:338-43. 2014
  10. 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

Collaborators

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

Detail Information

Publications13

  1. pmc Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients
    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
    Orphanet J Rare Dis 9:82. 2014
    ..Previously, we established a rapid test to determine the plasma 7-ketocholesterol level and found it elevated significantly in patients with acid sphingomyelinase deficient NPD and NP-C disease...
  2. 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...
  3. 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...
  4. ncbi 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:S435-42. 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. ..
  5. 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...
  6. 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...
  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 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...
  9. pmc Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease
    Na Lin
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China
    J Lipid Res 55:338-43. 2014
    ..The analysis of plasma 7-KC by LC-MS/MS offers the first simple, quantitative, and highly sensitive method for detection of ASMase-deficient NPD and could be useful in the diagnosis of both ASMase-deficient NPD and NPC disease. ..
  10. 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...
  11. 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
    ..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...
  12. 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...
  13. 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...