Huiwen Zhang

发表

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

Xuefan Gu, L. Liang, Hong-guang Zhu, 2020, Orphanet Journal of Rare Diseases.

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening

Xuefan Gu, L. Liang, Shengnan Wu, 2022, Frontiers in Genetics.

Spectrum Analysis of Common Inherited Metabolic Diseases in Chinese Patients Screened and Diagnosed by Tandem Mass Spectrometry

Xuefan Gu, Huiwen Zhang, Jun Ye, 2015, Journal of clinical laboratory analysis.

In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.

X. Mo, Qi-hua Fu, Xuefan Gu, 2019, Gene.

Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.

Xuefan Gu, L. Liang, Tianwen Zhu, 2013, Gene.

21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel mutations

Xuefan Gu, L. Liang, Yongguo Yu, 2016, Steroids.

Xuefan Gu, Xiaodong Ding, Yuanwen Chen, 2015, Biochemical and biophysical research communications.

Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome.

Xuefan Gu, Jialin Gao, Huiwen Zhang, 2011, European journal of medical genetics.

Recurring G12S Mutation of HRAS in a Chinese Child with Costello Syndrome with High Alkaline Phosphatase Level

Xuefan Gu, Huiwen Zhang, Jun Ye, 2009, Biochemical Genetics.

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

Fei Li, X. Ji, Xuefan Gu, 2018, BMC Medical Genomics.

Skeletal muscle-specific Sidt2 knockout in mice induced muscular dystrophy-like phenotype.

Lei Zhao, Xihua Li, Xueru Chen, 2018, Metabolism: clinical and experimental.

Impaired Glucose Tolerance in a Mouse Model of Sidt2 Deficiency

Xuefan Gu, Jialin Gao, Zhugang Wang, 2013, PloS one.

Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.

Xuefan Gu, Huiwen Zhang, Jun Ye, 2014, European journal of medical genetics.

Sidt2 regulates hepatocellular lipid metabolism through autophagy

Xuefan Gu, Xueru Chen, Huiwen Zhang, 2018, Journal of Lipid Research.

Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays

Xuefan Gu, L. Liang, Yongguo Yu, 2020, Journal of Human Genetics.

High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study.

Xuefan Gu, L. Liang, Yongguo Yu, 2020, Clinical chemistry.

Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development

Xuefan Gu, L. Liang, Yongguo Yu, 2017, Scientific Reports.

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

Xuefan Gu, Ruixu Yang, Huiwen Zhang, 2014, Orphanet Journal of Rare Diseases.

Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease

Xuefan Gu, Huiwen Zhang, Jun Ye, 2014, Journal of Lipid Research.

A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing

Xuefan Gu, Ruixu Yang, Huiwen Zhang, 2015, Journal of Human Genetics.

Successful newborn screening for Gaucher disease using fluorometric assay in China

Xuefan Gu, Lulu Kang, Huiwen Zhang, 2017, Journal of Human Genetics.

Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia

Xuefan Gu, L. Liang, Yongguo Yu, 2016, Steroids.

Phenylketonuria-related cognitive dysfunction and its mechanism in a BTBR-Pahenu 2 mouse model

Xuefan Gu, L. Liang, Yongguo Yu, 2017 .

The usage of enzyme replacement treatments, economic burden, and quality of life of patients with four lysosomal storage diseases in Shanghai, China.

Dingguo Li, Huiwen Zhang, C. Jin, 2021, Intractable & rare diseases research.

SIDT2 is involved in the NAADP-mediated release of calcium from insulin secretory granules.

Xuefan Gu, Yanan Cao, Ruixu Yang, 2016, Journal of molecular endocrinology.

Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China

Xuefan Gu, Yanling Yang, Ya-fen Zhang, 2010, Journal of Inherited Metabolic Disease.

Noninvasive prenatal test of methylmalonic academia cblC type through targeted sequencing of cell-free DNA in maternal plasma

Zhiyu Peng, X. Ji, Xuefan Gu, 2018, bioRxiv.

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

Xuefan Gu, L. Liang, Yongguo Yu, 2020, Orphanet Journal of Rare Diseases.

Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia

Xuefan Gu, Huiwen Zhang, Jun Ye, 2014, Journal of Human Genetics.

Steroid profile in dried blood spots by liquid chromatography tandem mass spectrometry: Application to newborn screening for congenital adrenal hyperplasia in China

Xuefan Gu, Huiwen Zhang, W. Qiu, 2022, Steroids.

Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening

Xuefan Gu, Shengnan Wu, Huiwen Zhang, 2015, American journal of medical genetics. Part A.

Predominant cellular mitochondrial dysfunction in the TOP3A gene-caused Bloom syndrome-like disorder.

Lingqian Wu, Chaowan Guo, T. Ogi, 2020, Biochimica et biophysica acta. Molecular basis of disease.

Application of liquid chromatography-tandem mass spectrometry in the diagnosis and follow-up of maple syrup urine disease in a Chinese population

Xuefan Gu, Huiwen Zhang, Jun Ye, 2013, Journal of pediatric endocrinology & metabolism : JPEM.

Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease

G. Maegawa, Huiwen Zhang, Mengni Yi, 2019, Journal of Human Genetics.

Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.

N. Blau, Xuefan Gu, L. Liang, 2018, Clinica chimica acta; international journal of clinical chemistry.

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

Xuefan Gu, L. Liang, Shengnan Wu, 2020, Orphanet Journal of Rare Diseases.

Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants

X. Gu, Huiwen Zhang, Jun Ye, 2015, World Journal of Pediatrics.

QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency

X. Gu, Ya-fen Zhang, Huiwen Zhang, 2014, World Journal of Pediatrics.

[Application of succinylacetone levels measurement in the blood and urine in the diagnosis of tyrosinemia type 1].

X. Gu, Xiao-Yan Li, Huiwen Zhang, 2012, Zhonghua er ke za zhi = Chinese journal of pediatrics.

[Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency].

X. Gu, Tong Wang, Ya-fen Zhang, 2009, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

A rare form of Gaucher disease resulting from saposin C deficiency.

Xuefan Gu, Lulu Kang, Huiwen Zhang, 2018, Blood cells, molecules & diseases.

Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II

L. Liang, X. Gu, Huiwen Zhang, 2018, Acta Pharmacologica Sinica.

A Perioperative Small Dose of Dexamethasone Enhances Postoperative Recovery by Reducing Volume and Inflammatory Contents in Wound Drainage After Thyroid Surgery: A Double-Blinded, Randomized, Prospective Study

Qiang Wu, Youben Fan, Huiwen Zhang, 2019, World Journal of Surgery.

Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy

X. Gu, Huiwen Zhang, Jun Ye, 2015, World Journal of Pediatrics.

Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies.

X. Gu, Ya-fen Zhang, Huiwen Zhang, 2011, Molecular medicine reports.

[Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia].

X. Gu, Lanfang Cao, Tong Wang, 2010, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study

A. Dauber, L. Liang, Yongguo Yu, 2018, Cellular Physiology and Biochemistry.

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study

Yiping Shen, Linlin M Chen, D. Liang, 2022, Human mutation.

Analysis of gene mutations in Chinese patients with maple syrup urine disease.

Xuefan Gu, Ya-fen Zhang, Huiwen Zhang, 2012, Molecular genetics and metabolism.

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

Xuefan Gu, L. Liang, Huiwen Zhang, 2020, Orphanet Journal of Rare Diseases.

Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches

Xuefan Gu, L. Liang, Simon C. K. Ding, 2022, Frontiers in Genetics.

[Clinical and mutational study of a Chinese infant with isovaleric acidemia].

X. Gu, Huiwen Zhang, Jun Ye, 2008, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study

Xuefan Gu, L. Liang, Shengnan Wu, 2021, Molecular genetics & genomic medicine.

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

Xuefan Gu, Jing Li, Huiwen Zhang, 2011, PloS one.

[Application of enzyme assay and gene analysis in the prenatal diagnosis for a family with glycogen storage disease type II].

X. Gu, Huiwen Zhang, Jun Ye, 2011, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B

Xuefan Gu, Jiayue Hu, G. Maegawa, 2021, Human mutation.

Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma

Asan, Xuefan Gu, Huiwen Zhang, 2018, Scientific Reports.

An open label, multicenter clinical trial that investigated the efficacy and safety of leuprorelin treatment of central precocious puberty in Chinese children

Junfen Fu, Yan Zhong, Ying Liu, 2021, Medicine.

Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA

Xuefan Gu, G. Maegawa, Huiwen Zhang, 2022, Journal of inherited metabolic disease.

Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China

Xuefan Gu, Xueru Chen, Huiwen Zhang, 2016, Journal of Human Genetics.

Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II

L. Liang, X. Gu, Huiwen Zhang, 2018, Acta Pharmacologica Sinica.

A Large Deletion of PROP1 Gene in Patients with Combined Pituitary Hormone Deficiency from Two Unrelated Chinese Pedigrees

Xuefan Gu, Huiwen Zhang, L. Han, 2010, Hormone Research in Paediatrics.

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

Xuefan Gu, Huiwen Zhang, Jun Ye, 2013, Orphanet Journal of Rare Diseases.

Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China

Xuefan Gu, L. Liang, Yongguo Yu, 2022, Human mutation.

Rapid detection of twenty-nine common Chinese glucose-6-phosphate dehydrogenase variants using a matrix-assisted laser desorption/ionization-time of flight mass spectrometry assay on dried blood spots.

Xuefan Gu, L. Liang, Yongguo Yu, 2021, Clinical biochemistry.

Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients

Xuefan Gu, L. Liang, Ting Chen, 2021, Frontiers in Genetics.

Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches

Yan Xu, Xuefan Gu, L. Liang, 2020, Frontiers in Genetics.

Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity

S. Duan, S. Lai, X. Zuo, 2017, Diabetes.

Potential Disease-Modifying Effects of Lithium Carbonate in Niemann-Pick Disease, Type C1

Dianqing Wu, G. Maegawa, Shiqian Han, 2021, Frontiers in Pharmacology.

Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying gene c.609G>A mutation.

Xuefan Gu, L. Liang, Huiwen Zhang, 2021, Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences.

Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.

Xuefan Gu, L. Liang, Huiwen Zhang, 2021, Journal of clinical lipidology.

Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China

Xuefan Gu, L. Liang, Ting Chen, 2022, Frontiers in Genetics.

[Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].

X. Gu, Xiao-Yan Li, Huiwen Zhang, 2013, Zhonghua er ke za zhi = Chinese journal of pediatrics.

[Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia].

Xuefan Gu, Ya-fen Zhang, Huiwen Zhang, 2014, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene

Huiwen Zhang, Deyun Lu, Zhang, 2023, Metabolic Brain Disease.

Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches

X. Ji, Yan Xu, Yingwei Chen, 2019, Prenatal diagnosis.

Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell‐free DNA in maternal plasma

Zhiyu Peng, X. Ji, Xuefan Gu, 2019, Prenatal diagnosis.

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

Xuefan Gu, L. Liang, Hong-guang Zhu, 2020, Orphanet Journal of Rare Diseases.

Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency

X. Gu, Huiwen Zhang, Jun Ye, 2014, World Journal of Pediatrics.

Deep intronic PAH variants explain missing heritability in hyperphenylalaninemia.

Xuefan Gu, L. Liang, Yongguo Yu, 2023, The Journal of molecular diagnostics : JMD.

One-year follow-up of thyroid function in 23 infants with Prader- Willi syndrome at a single center in China.

Xuefan Gu, Yongguo Yu, Huiwen Zhang, 2021, Intractable & rare diseases research.

Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease

Xuefan Gu, Huiwen Zhang, Xiaoqing Liu, 2010, Brain and Development.

Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia

X. Gu, Huiwen Zhang, Jun Ye, 2018, World Journal of Pediatrics.

The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients

Xuefan Gu, L. Liang, Tianwen Zhu, 2017, Scientific Reports.

A Study of Gene Expression Profiles of Cultured Embryonic Rat Neurons Induced by Phenylalanine

X. Gu, Huiwen Zhang, Hui-wen Zhang, 2005, Metabolic Brain Disease.

Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease

Xuefan Gu, Lulu Kang, Huiwen Zhang, 2018, Brain and Development.

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

Xuefan Gu, Xiaobing Yuan, Huiwen Zhang, 2007, Pediatric Research.

Homozygous LMNA mutation R527C in atypical Hutchinson–Gilford progeria syndrome: evidence for autosomal recessive inheritance

Xuefan Gu, L. Liang, Huiwen Zhang, 2009, Acta paediatrica.

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

Xuefan Gu, L. Liang, Ting Chen, 2023, Orphanet Journal of Rare Diseases.

Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome

T. Stauber, F. He, Jing Peng, 2023, CNS neuroscience & therapeutics.

Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China

Xuefan Gu, L. Liang, Huiwen Zhang, 2021, Frontiers in Genetics.

Lithium ameliorates Niemann-Pick C1 disease phenotypes by impeding STING/SREBP2 activation

C. Fernández-Hernando, Dianqing Wu, Yongfeng Song, 2023, iScience.

Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome

G. Maegawa, Huiwen Zhang, Chenchen Wu, 2023, Brain and Development.

Newborn screening of maple syrup urine disease and the effect of early diagnosis.

Xuefan Gu, L. Liang, Ting Chen, 2023, Clinica chimica acta; international journal of clinical chemistry.

Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients

Xuefan Gu, L. Liang, Yongguo Yu, 2023, Journal of medical genetics.

Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases

Xuefan Gu, L. Liang, Shengnan Wu, 2023, Journal of Medical Genetics.

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

X. Ji, Xuefan Gu, L. Liang, 2018, BMC medical genomics.

Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China

Xiong-ying Yu, F. Luo, Xiao-hong Chen, 2022, Orphanet Journal of Rare Diseases.

The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients

Xuefan Gu, L. Liang, Tianwen Zhu, 2017, Scientific Reports.

Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant

X. Gu, Huiwen Zhang, Jun Ye, 2015, Chinese medical journal.

Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia

Xuefan Gu, L. Liang, Yongguo Yu, 2019, Journal of clinical laboratory analysis.

Use of Ambroxol as Therapy for Gaucher Disease

Jinning Li, Dengbin Wang, G. Maegawa, 2023, JAMA network open.

Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease

G. Maegawa, Huiwen Zhang, Wenjun Jiang, 2019, Journal of Human Genetics.

Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity

S. Duan, S. Lai, X. Zuo, 2017, Diabetes.

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

Xuefan Gu, L. Liang, Ting Chen, 2023, Orphanet Journal of Rare Diseases.

SID1 transmembrane family, member 2 (Sidt2): a novel lysosomal membrane protein.

Xuefan Gu, Jialin Gao, Huiwen Zhang, 2010, Biochemical and biophysical research communications.

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study

Yiping Shen, Linlin M Chen, D. Liang, 2021, Human mutation.

Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report.

Xuefan Gu, L. Liang, Ting Chen, 2023, Molecular genetics and metabolism.

Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis

X. Gu, Huiwen Zhang, Jun Ye, 2012, World Journal of Pediatrics.

Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China

L. Liang, Ting Chen, Huiwen Zhang, 2024, Human genomics.

[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency].

X. Gu, Huiwen Zhang, Jun Ye, 2010, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.