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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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Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications

BMC pediatrics, 2019-01, Vol.19 (1), p.18-18, Article 18

2019

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JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome

PloS one, 2015-06, Vol.10 (6), p.e0130355-e0130355

2015

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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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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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Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency

BMC gastroenterology, 2022-05, Vol.22 (1), p.227-227, Article 227

2022

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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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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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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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The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency

PloS one, 2016-04, Vol.11 (4), p.e0153114-e0153114

2016

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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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Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature

Frontiers in endocrinology (Lausanne), 2019-06, Vol.10, p.359

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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Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis

Human mutation, 2023-07, Vol.2023, p.1-12

2023

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Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis

Journal of medical genetics, 2021-08, Vol.58 (8), p.514

2021

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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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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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Training enhancement for new challenges in pediatric liver diseases

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

2015

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Kinesin family member 12‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity

Clinical genetics, 2024-09, Vol.106 (3), p.224-233

2024

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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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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

Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications

JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome

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

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

Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency

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

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

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

The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency

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

Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature

Concern about liver disease in children

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

Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis

Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis

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

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

Training enhancement for new challenges in pediatric liver diseases

Kinesin family member 12‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity

先天性糖基化障碍与肝脏疾病

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

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