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Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty

Journal of human genetics, 2020-04, Vol.65 (4), p.387-396

2020

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Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features

Frontiers in genetics, 2021-05, Vol.12, p.658786-658786

2021

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Zinc mono-therapy in pre-symptomatic Chinese children with Wilson disease: a single center, retrospective study

PloS one, 2014-01, Vol.9 (1), p.e86168

2014

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Molecular findings in children with inherited intrahepatic cholestasis

Pediatric research, 2020-01, Vol.87 (1), p.112-117

2020

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Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review

Journal of Pediatric Endocrinology and Metabolism, 2020-10, Vol.33 (10), p.1321-1333

2020

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TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy

Frontiers in genetics, 2022-03, Vol.13, p.833495-833495

2022

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NBAS disease: 14 new patients, a recurrent mutation, and genotype–phenotype correlation among 24 Chinese patients

Hepatology research, 2020-11, Vol.50 (11), p.1306-1315

2020

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Mycoplasma pneumoniae and Adenovirus Coinfection Cause Pediatric Severe Community-Acquired Pneumonia

Microbiology spectrum, 2022-04, Vol.10 (2), p.e0002622-e0002622

2022

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A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features

Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1492-n/a

2020

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The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis

Frontiers in genetics, 2022-03, Vol.13, p.867413-867413

2022

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Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children

Frontiers in pediatrics, 2023-02, Vol.11, p.1094895-1094895

2023

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A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report

BMC gastroenterology, 2018-06, Vol.18 (1), p.96-96, Article 96

2018

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Inherited metabolic diseases and liver transplantation

Zhonghua gan zang bing za zhi, 2019-03, Vol.27 (3), p.166

2019

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Concern about liver disease in children

Zhonghua gan zang bing za zhi, 2021-01, Vol.29 (1), p.5

2021

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UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation

Medicine (Baltimore), 2018-12, Vol.97 (49), p.e13576-e13576

2018

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Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature

World journal of gastroenterology : WJG, 2018-09, Vol.24 (36), p.4208-4216

2018

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Training enhancement for new challenges in pediatric liver diseases

Linchuang gandanbing zazhi, 2015-08, Vol.31 (8)

2015

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A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene

Oncotarget, 2017-10, Vol.8 (48), p.84309-84319

2017

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先天性糖基化障碍与肝脏疾病

临床肝胆病杂志, 2019-08, Vol.35 (8), p.1684-1689

2019

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Wilson disease with hepatic presentation in an eight-month-old boy

World journal of gastroenterology : WJG, 2015-08, Vol.21 (29), p.8981-8984

2015

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An infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia

Journal of Pediatric Endocrinology and Metabolism, 2020-05, Vol.33 (6), p.803-808

2020

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Focus on diagnosis and treatment of genetic liver disorders

Zhonghua gan zang bing za zhi, 2018-12, Vol.26 (12), p.881

2018

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遗传性肝病之"百变面孔"

临床肝胆病杂志, 2019-08, Vol.35 (8), p.1657-1662

2019

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Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients

Liver international, 2022-08, Vol.42 (8), p.1836-1848

2022

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Classical form of galactosemia: 4 cases

Zhonghua gan zang bing za zhi, 2020-01, Vol.28 (1), p.77

2020

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Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty

Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features

Zinc mono-therapy in pre-symptomatic Chinese children with Wilson disease: a single center, retrospective study

Molecular findings in children with inherited intrahepatic cholestasis

Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review

TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy

NBAS disease: 14 new patients, a recurrent mutation, and genotype–phenotype correlation among 24 Chinese patients

Mycoplasma pneumoniae and Adenovirus Coinfection Cause Pediatric Severe Community-Acquired Pneumonia

A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features

The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis

Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children

A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report

Inherited metabolic diseases and liver transplantation

Concern about liver disease in children

UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation

Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature

Training enhancement for new challenges in pediatric liver diseases

A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene

先天性糖基化障碍与肝脏疾病

Wilson disease with hepatic presentation in an eight-month-old boy

An infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia

Focus on diagnosis and treatment of genetic liver disorders

遗传性肝病之"百变面孔"

Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients

Classical form of galactosemia: 4 cases

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