Kuerbanjiang Abuduxikuer

399 Wanyuan Road
Minhang, China

Last Updated: 09/26/2026

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Found 30 publications

Research advances on the glycomics for the diagnosis and treatment of congenital disorders of glycosylation

Research advances on the glycomics for the diagnosis and treatment of congenital disorders of glycosylation

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: February 20, 2025

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

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

Journal: Clinical genetics

Published: January 28, 2024

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

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

Journal: Human mutation

Published: April 24, 2023

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

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

Journal: Frontiers in pediatrics

Published: November 10, 2022

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

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

Journal: Microbiology spectrum

Published: March 21, 2022

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

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

Journal: Frontiers in genetics

Published: February 01, 2022

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

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

Journal: BMC gastroenterology

Published: January 06, 2022

TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy.

TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy.

Journal: Frontiers in genetics

Published: December 11, 2021

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

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

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: September 22, 2021

Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports.

Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports.

Journal: World journal of clinical cases

Published: June 25, 2021

Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features.

Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features.

Journal: Frontiers in genetics

Published: January 26, 2021

Pediatric Wilson disease presenting as acute liver failure: Prognostic indices.

Pediatric Wilson disease presenting as acute liver failure: Prognostic indices.

Journal: World journal of clinical cases

Published: January 12, 2021

Showing 1-12 of 30

Last Updated: 09/26/2026