about
JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.Wilson disease with hepatic presentation in an eight-month-old boy.The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.Zinc mono-therapy in pre-symptomatic Chinese children with Wilson disease: a single center, retrospective study.A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report.Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literatureRisk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implicationsUGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlationNovel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature.Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty
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description
researcher ORCID ID = 0000-0003-0298-3269
@en
wetenschapper
@nl
name
Kuerbanjiang Abuduxikuer
@ast
Kuerbanjiang Abuduxikuer
@en
Kuerbanjiang Abuduxikuer
@es
Kuerbanjiang Abuduxikuer
@nl
type
label
Kuerbanjiang Abuduxikuer
@ast
Kuerbanjiang Abuduxikuer
@en
Kuerbanjiang Abuduxikuer
@es
Kuerbanjiang Abuduxikuer
@nl
prefLabel
Kuerbanjiang Abuduxikuer
@ast
Kuerbanjiang Abuduxikuer
@en
Kuerbanjiang Abuduxikuer
@es
Kuerbanjiang Abuduxikuer
@nl
P106
P31
P496
0000-0003-0298-3269