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Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry.
- Published in:
- 2017
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- Publication type:
- journal article
Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study.
- Published in:
- 2017
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- Publication type:
- journal article
Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: Incomplete response to carbamazepine and ursodeoxycholic acid.
- Published in:
- 2016
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- Publication type:
- journal article
Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.658786
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- Publication type:
- Article
The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia.
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- Journal of Gastroenterology, 2011, v. 46, n. 4, p. 510, doi. 10.1007/s00535-010-0329-y
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- Publication type:
- Article
Significance of low or normal serum gamma glutamyl transferase level in infants with idiopathic neonatal hepatitis.
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- European Journal of Pediatrics, 2006, v. 165, n. 11, p. 795, doi. 10.1007/s00431-006-0175-3
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- Publication type:
- Article
Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenodeoxycholic acid.
- Published in:
- 2021
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- Publication type:
- journal article
ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low γ glutamyltransferase.
- Published in:
- Liver International, 2010, v. 30, n. 6, p. 809, doi. 10.1111/j.1478-3231.2009.02112.x
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- Publication type:
- Article
Association of variants of ABCB11 with transient neonatal cholestasis.
- Published in:
- Pediatrics International, 2013, v. 55, n. 2, p. 138, doi. 10.1111/ped.12049
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- Publication type:
- Article
Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency.
- Published in:
- 2022
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- Publication type:
- journal article
Association of novel TMEM67 variants with mild phenotypes of high gamma‐glutamyl transpeptidase cholestasis and congenital hepatic fibrosis.
- Published in:
- Journal of Cellular Physiology, 2022, v. 237, n. 6, p. 2713, doi. 10.1002/jcp.30788
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- Publication type:
- Article
NBAS disease: 14 new patients, a recurrent mutation, and genotype–phenotype correlation among 24 Chinese patients.
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- Hepatology Research, 2020, v. 50, n. 11, p. 1306, doi. 10.1111/hepr.13559
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- Publication type:
- Article
Splicing analysis of rare/novel synonymous or intronic variants identified in ABCB11 heterozygotes presenting as progressive intrahepatic cholestasis with low γ‐glutamyltransferase.
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- Hepatology Research, 2018, v. 48, n. 7, p. 574, doi. 10.1111/hepr.13055
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- Publication type:
- Article
Urinary copper/zinc ratio: a promising parameter for replacement of 24-hour urinary copper excretion for diagnosis of Wilson’s disease in children.
- Published in:
- World Journal of Pediatrics, 2010, v. 6, n. 2, p. 148, doi. 10.1007/s12519-010-0023-4
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- Publication type:
- Article
Clinical and pathological characteristics of Alagille syndrome in Chinese children.
- Published in:
- World Journal of Pediatrics, 2008, v. 4, n. 4, p. 283, doi. 10.1007/s12519-008-0051-5
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- Publication type:
- Article
Zinc Mono-Therapy in Pre-Symptomatic Chinese Children with Wilson Disease: A Single Center, Retrospective Study.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086168
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- Publication type:
- Article
Ursodeoxycholic acid administration did not reduce susceptibility to SARS‐CoV‐2 infection in children.
- Published in:
- Liver International, 2023, v. 43, n. 9, p. 1950, doi. 10.1111/liv.15660
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- Publication type:
- Article
Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.
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- Liver International, 2022, v. 42, n. 8, p. 1836, doi. 10.1111/liv.15292
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- Publication type:
- Article
MYO5B‐associated diseases: Novel liver‐related variants and genotype‐phenotype correlation.
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- Liver International, 2022, v. 42, n. 2, p. 402, doi. 10.1111/liv.15104
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- Publication type:
- Article
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.
- Published in:
- Liver International, 2020, v. 40, n. 11, p. 2788, doi. 10.1111/liv.14642
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- Publication type:
- Article
Low‐GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.
- Published in:
- Liver International, 2020, v. 40, n. 5, p. 1142, doi. 10.1111/liv.14422
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- Publication type:
- Article
Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations.
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- Liver International, 2018, v. 38, n. 9, p. 1676, doi. 10.1111/liv.13714
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- Publication type:
- Article
JAM3: A prognostic biomarker for bladder cancer via epithelial–mesenchymal transition regulation.
- Published in:
- Biomolecules & Biomedicine, 2024, v. 24, n. 4, p. 897, doi. 10.17305/bb.2024.9979
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- Publication type:
- Article
Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ<sup>5</sup>-C<sub>27</sub>-steroid oxidoreductase (HSD3B7) deficiency in China.
- Published in:
- 2021
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- Publication type:
- journal article
Low-dose radiation-induced apoptosis in human leukemia K562 cells through mitochondrial pathways.
- Published in:
- Molecular Medicine Reports, 2014, v. 10, n. 3, p. 1569, doi. 10.3892/mmr.2014.2381
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- Publication type:
- Article
Electrostatically stabilized aggregate (ESAg). III. Evidence derived from the coaggregating behavior of fluorescence probes (FP) with ionic surfactants.
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- Chinese Journal of Chemistry, 1993, v. 11, n. 5, p. 472, doi. 10.1002/cjoc.19930110514
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- Publication type:
- Article
Kinesin family member 12‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity.
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- Clinical Genetics, 2024, v. 106, n. 3, p. 224, doi. 10.1111/cge.14524
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- Publication type:
- Article
Heat shock protein family A member 8 is a prognostic marker for bladder cancer: Evidences based on experiments and machine learning.
- Published in:
- Journal of Cellular & Molecular Medicine, 2023, v. 27, n. 24, p. 3995, doi. 10.1111/jcmm.17977
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- Article
Anemia following zinc treatment for Wilson's disease: a case report and literature review.
- Published in:
- 2019
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- Publication type:
- journal article
A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report.
- Published in:
- 2018
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- Publication type:
- journal article
Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature.
- Published in:
- Frontiers in Endocrinology, 2019, p. N.PAG, doi. 10.3389/fendo.2019.00359
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- Publication type:
- Article
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0164058
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- Publication type:
- Article
The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.
- Published in:
- PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153114
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- Publication type:
- Article
Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications.
- Published in:
- 2019
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- Publication type:
- journal article
Abnormal Bilirubin Metabolism in Patients with Sodium Taurocholate Cotransporting Polypeptide Deficiency.
- Published in:
- 2020
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- Publication type:
- journal article
Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.
- Published in:
- 2010
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- Publication type:
- journal article
TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy.
- Published in:
- Frontiers in Genetics, 2022, p. 1, doi. 10.3389/fgene.2022.833495
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- Publication type:
- Article
The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis.
- Published in:
- Frontiers in Genetics, 2022, p. 1, doi. 10.3389/fgene.2022.867413
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- Publication type:
- Article
Diagnosis, treatment and prevention of severe acute respiratory syndrome coronavirus 2 infection in children: experts' consensus statement updated for the Omicron variant.
- Published in:
- World Journal of Pediatrics, 2024, v. 20, n. 3, p. 272, doi. 10.1007/s12519-023-00745-3
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- Publication type:
- Article
Poly-hydroxylated bile acids and their prognostic roles in Alagille syndrome.
- Published in:
- World Journal of Pediatrics, 2023, v. 19, n. 7, p. 652, doi. 10.1007/s12519-022-00676-5
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- Publication type:
- Article
Diagnosis, treatment, and prevention of monkeypox in children: an experts' consensus statement.
- Published in:
- World Journal of Pediatrics, 2023, v. 19, n. 3, p. 231, doi. 10.1007/s12519-022-00624-3
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- Publication type:
- Article
Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/8848362
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- Publication type:
- Article
Balanced Translocation Disrupting JAG1 Identified by Optical Genomic Mapping in Suspected Alagille Syndrome.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/5396281
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- Publication type:
- Article
TJP2 hepatobiliary disorders: Novel variants and clinical diversity.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 502, doi. 10.1002/humu.23947
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- Publication type:
- Article
Novel missense mutation in VPS33B is associated with isolated low gamma‐glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. 2247, doi. 10.1002/humu.23770
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- Publication type:
- Article
Serum Golgi protein 73 is a marker comparable to APRI for diagnosing significant fibrosis in children with liver disease.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34714-y
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- Publication type:
- Article
Comprehensive Bile Acid Profiling of ABCB4-mutated Patients and the Prognostic Role of Taurine-conjugated 3α,6α,7α,12α-Tetrahydroxylated Bile Acid in Cholestasis.
- Published in:
- Journal of Clinical & Translational Hepatology, 2024, v. 12, n. 2, p. 151, doi. 10.14218/JCTH.2023.00095
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- Publication type:
- Article
Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 1, doi. 10.1186/1471-2350-12-6
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- Publication type:
- Article