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. 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:S435-42. 2010
  5. ncbi request reprint [Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency]
    Feng Han
    Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
    Zhonghua Yi Xue Za Zhi 94:2684-6. 2014
  6. doi request reprint Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency
    Lianshu Han
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
    Eur J Med Genet 57:571-5. 2014
  7. 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
  8. 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
  9. doi request reprint Spectrum analysis of common inherited metabolic diseases in chinese patients screened and diagnosed by tandem mass spectrometry
    Lianshu Han
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiaotong University School of Medicine, Shanghai, China
    J Clin Lab Anal 29:162-8. 2015
  10. ncbi request reprint [Three Chinese children with Niemann-Pick disease type C with neonatal cholestasis as initial presentation]
    Rui Yang
    Department of Pediatric Endocrinologic, Genetic and Metabolic Diseases, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China
    Zhonghua Er Ke Za Zhi 53:57-61. 2015

Collaborators

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

Detail Information

Publications20

  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. 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: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. ncbi request reprint [Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency]
    Feng Han
    Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
    Zhonghua Yi Xue Za Zhi 94:2684-6. 2014
    ..To explore the clinical manifestations and biochemical characteristics of patients with ornithine transcarbamylase deficiency (OTCD) so as to increase the clinician awareness for this disease...
  6. doi request reprint Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency
    Lianshu Han
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
    Eur J Med Genet 57:571-5. 2014
    ..Further functional studies with a large sample size are required to understand the relationship between R254X mutation and CDSP. ..
  7. 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...
  8. 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...
  9. doi request reprint Spectrum analysis of common inherited metabolic diseases in chinese patients screened and diagnosed by tandem mass spectrometry
    Lianshu Han
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiaotong University School of Medicine, Shanghai, China
    J Clin Lab Anal 29:162-8. 2015
    ..Information concerning inherited metabolic diseases in China is scarce. We investigated the prevalence and age distributions of amino acid, organic acid, and fatty acid oxidation disorders in Chinese patients...
  10. ncbi request reprint [Three Chinese children with Niemann-Pick disease type C with neonatal cholestasis as initial presentation]
    Rui Yang
    Department of Pediatric Endocrinologic, Genetic and Metabolic Diseases, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China
    Zhonghua Er Ke Za Zhi 53:57-61. 2015
    ..To analyze the clinical characteristics of three Chinese cases of Niemann-Pick disease type C patients with neonatal cholestasis as initial presentation, and enhance awareness of Niemann-Pick disease type C among pediatricians...
  11. 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...
  12. 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...
  13. 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. ..
  14. ncbi request reprint [Follow up and gene mutation analysis in cases suspected as 3-Methylcrotony1-coenzyme A carboxylase deficiency by neonatal screening]
    Jun Ye
    Department of Pediatric Endocrinologic, Genetic and Metabolic Diseases, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China
    Zhonghua Er Ke Za Zhi 52:409-14. 2014
    ..The aim of the study was to investigate the clinical outcomes in cases suspected as MCCD by neonatal screening. The second aim was to investigate the mutation spectrum of MCC gene in Chinese population and hotspot mutation...
  15. ncbi request reprint [Tyrosine hydroxylase deficiency:a case of autosomal recessive dopa-responsive dystonia]
    Dongqiong Tan
    Department of Pediatric Endocrinologic, Genetic and Metabolic Diseases, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China
    Zhonghua Er Ke Za Zhi 52:616-9. 2014
    ..To analyze the clinical characteristics of the patient with tyrosine hydroxylase deficiency, and investigate it's molecular mechanism...
  16. 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...
  17. doi request reprint Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia
    Yu Wang
    Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China
    J Hum Genet 59:563-7. 2014
    ..Our data support the importance of TGFβ-binding protein-like domain 5 of FBN1 protein in pathogenicity of acromelic dysplasia, and expands the genotype/phenotype relations of these rare forms of fibrilliopathies. ..
  18. 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...
  19. 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...
  20. 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...