L. Han

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.

Identification of the Plasma Metabolomics as Early Diagnostic Markers between Biliary Atresia and Neonatal Hepatitis Syndrome

Jun Zhang, Yongjun Zhang, Zhengjuan He, 2014, PloS one.

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.

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

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

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

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

[Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype].

T. Saheki, Keiko Kobayashi, Yanling Yang, 2009, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

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.

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 .

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.

[The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency].

X. Gu, Jun Ye, L. Han, 2009, Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine].

Newborn screening in China: phenylketonuria, congenital hypothyroidism and expanded screening.

Xuefan Gu, Zhiguo Wang, Jun Ye, 2008, Annals of the Academy of Medicine, Singapore.

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

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

Noninvasive fetal genotyping in pregnancies at risk for PKU using a comprehensive quantitative cSMART assay for PAH gene mutations: a clinical feasibility study

L. Wu, W. Lv, H. Zhu, 2019, BJOG : an international journal of obstetrics and gynaecology.

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.

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.

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.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Gary L Hoffman, Alicia Roberts, Stephen M Downs, 2011, Genetics in Medicine.

[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.

[Molecular genetic analysis of congenital lipoid adrenal hyperplasia].

X. Gu, Jun Ye, L. Han, 2004, Zhonghua er ke za zhi = Chinese journal of 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.

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.

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.

Newborn screening for genetic disorders: Current status and prospects for the future

Simon C. K. Ding, L. Han, 2022, Pediatric investigation.

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.

Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations

D. Liang, L. Liang, Zhuo Li, 2022, Frontiers in Genetics.

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.

MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases.

Huimin Li, Dengbin Wang, Yun Feng, 2017, Diagnostic and interventional radiology.

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.

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

Shengying Qin, Xuefan Gu, Tianwen Zhu, 2010, Pediatric Research.

Insights into the molecular mechanisms of methylmalonic acidemia using microarray technology.

Xuefan Gu, Shengnan Wu, L. Han, 2015, International journal of clinical and experimental medicine.

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

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

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.

Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia

X. Gu, Z. Gong, L. Han, 2017, World Journal of Pediatrics.

Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients.

K. Hsiao, Y. Qi, Shio‐Jean Lin, 2012, JIMD reports.

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.

Different Pattern of Cardiovascular Impairment in Methylmalonic Acidaemia Subtypes

K. Sun, L. Han, Ruixue Shuai, 2022, Frontiers in Pediatrics.

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria

K. Hsiao, Y. Qi, Shuan-Pei Lin, 2010, Journal of Human Genetics.

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, 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.

[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia].

X. Gu, Yanling Yang, Ya-fen Zhang, 2009, 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.

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.

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.

[Gene mutation analysis in patients with propionic acidemia].

X. Gu, Li Liu, Yanling Yang, 2008, Zhonghua er ke za zhi = Chinese 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.

[Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test].

X. Gu, Jun Ye, L. Han, 2005, Zhonghua er ke za zhi = Chinese journal of pediatrics.

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

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

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.

Dynamic changes in blood amino acid concentrations in preterm infants in different nutritional periods.

Haiqing Shen, Li Wang, Danyang Liu, 2020, Asia Pacific journal of clinical nutrition.

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.

Living‐donor liver transplantation for children with tyrosinemia type I

F. Xue, Q. Xia, Yuan Liu, 2020, Journal of digestive diseases.

Rapid detection of glycogen storage disease type Ia by DNA microarray

Shengying Qin, Lin He, Xuefan Gu, 2010, Clinical chemistry and laboratory medicine.

Analysis of Amino Acid Patterns With Nutrition Regimens in Preterm Infants With Extrauterine Growth Retardation

Haiqing Shen, Li Wang, Danyang Liu, 2020, Frontiers in Pediatrics.

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.

Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts

Linhao Yang, M. Hei, X. Gu, 2022, World Journal of Pediatrics.

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

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

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.

Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening

Zhiyu Peng, Xuefan Gu, Jing-kun Miao, 2023, JAMA network open.

Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia

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

[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders].

Yong-Jun Zhang, X. Gu, Jun Ye, 2007, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

M. Seashore, F. Bamforth, Y. Chien, 2011, Genetics in Medicine.

Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency

Xuefan Gu, T. Wang, X. Gao, 2009, Journal of Inherited Metabolic Disease.

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

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

Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.

L. Han, Haili Hu, X. Zhan, 2023, World journal of pediatrics : WJP.

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.

[Clinical presentation and therapeutic outcomes of carnitine deficiency-induced cardiomyopathy].

P. Zhao, Ying Guo, Fen Li, 2012, Zhonghua er ke za zhi = Chinese journal of pediatrics.

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.