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Low‐GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization

Liver international, 2020-05, Vol.40 (5), p.1142-1150

2020

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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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NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.171-171, Article 171

2024

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ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression

Liver international, 2020-11, Vol.40 (11), p.2788-2796

2020

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MYO5B‐associated diseases: Novel liver‐related variants and genotype‐phenotype correlation

Liver international, 2022-02, Vol.42 (2), p.402-411

2022

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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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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.514-525

2021

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Expanding the phenotype and metabolic basis of ATP6AP2-congenital disorder of glycosylation in a Chinese patient with a novel variant c.185G>A (p.Gly62Glu)

Frontiers in genetics, 2023, Vol.14, p.1264237-1264237

2023

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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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A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions

PloS one, 2016-10, Vol.11 (10), p.e0164058-e0164058

2016

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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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Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations

Liver international, 2018-09, Vol.38 (9), p.1676-1685

2018

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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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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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Poly-hydroxylated bile acids and their prognostic roles in Alagille syndrome

World journal of pediatrics : WJP, 2023-07, Vol.19 (7), p.652-662

2023

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NTCP Deficiency Causes Gallbladder Abnormalities in Mice and Human Beings

Cellular and molecular gastroenterology and hepatology, 2021-01, Vol.11 (3), p.831-839

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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Non-invasive biomarkers for identification of vanishing bile duct syndrome among children with acute cholestatic hepatitis

Translational pediatrics, 2023-10, Vol.12 (10), p.1782-1790

2023

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Pediatric Wilson disease presenting as acute liver failure: Prognostic indices

World journal of clinical cases, 2021-05, Vol.9 (14), p.3273-3286

2021

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Efficacy of rituximab-containing regimens used as first-line and rescue therapy for giant cell hepatitis with autoimmune hemolytic anemia a retrospective study

Clinics and research in hepatology and gastroenterology, 2024-08, Vol.48 (7), p.102392, Article 102392

2024

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Clinical features of a Chinese infant with inborn error of bile acid metabolism-3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency and review of the literature

Zhonghua er ke za zhi, 2013-08, Vol.51 (8), p.625

2013

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Profiles of innate immune receptors and cytokines in peripheral blood mononuclear cells in children with measles

Zhonghua er ke za zhi, 2013-12, Vol.51 (12), p.898

2013

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Low‐GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization

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

NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death

ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression

MYO5B‐associated diseases: Novel liver‐related variants and genotype‐phenotype correlation

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

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

Expanding the phenotype and metabolic basis of ATP6AP2-congenital disorder of glycosylation in a Chinese patient with a novel variant c.185G>A (p.Gly62Glu)

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

A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions

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

Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations

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

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

Poly-hydroxylated bile acids and their prognostic roles in Alagille syndrome

NTCP Deficiency Causes Gallbladder Abnormalities in Mice and Human Beings

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

Non-invasive biomarkers for identification of vanishing bile duct syndrome among children with acute cholestatic hepatitis

Pediatric Wilson disease presenting as acute liver failure: Prognostic indices

Efficacy of rituximab-containing regimens used as first-line and rescue therapy for giant cell hepatitis with autoimmune hemolytic anemia a retrospective study

Clinical features of a Chinese infant with inborn error of bile acid metabolism-3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency and review of the literature

Profiles of innate immune receptors and cytokines in peripheral blood mononuclear cells in children with measles

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