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Authors whose works are in public domain in at least one jurisdiction

List of works by Kuerbanjiang Abuduxikuer

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

scientific article published on 15 September 2017

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

scientific article published on 25 June 2018

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

scientific article published on 31 July 2020

Different regional distribution ofSLC25A13mutations in Chinese patients with neonatal intrahepatic cholestasis ⬇️

scientific article published on July 28, 2013

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

scientific article published on 15 June 2015

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

scientific article

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

scientific article published on 21 January 2020

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

article

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

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

scientific article

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

article

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

scientific article published in August 2015

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

scientific article published on 24 January 2014

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