Xing-zhi Chang

Beijing, China

Last Updated: 09/26/2026

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Found 12 publications

Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder.

Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder.

Journal: Frontiers in pediatrics

Published: February 06, 2023

A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11.

A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11.

Journal: Clinical genetics

Published: September 05, 2021

Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy.

Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy.

Journal: Frontiers in genetics

Published: April 08, 2021

Comorbidity of chronic fatigue syndrome, postural tachycardia syndrome, and narcolepsy with 5,10-methylenetetrahydrofolate reductase (MTHFR) mutation in an adolescent: a case report.

Comorbidity of chronic fatigue syndrome, postural tachycardia syndrome, and narcolepsy with 5,10-methylenetetrahydrofolate reductase (MTHFR) mutation in an adolescent: a case report.

Journal: Chinese medical journal

Published: March 31, 2021

Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients.

Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients.

Journal: Chinese medical journal

Published: December 08, 2020

Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency.

Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency.

Journal: Chinese medical journal

Published: June 10, 2020

Hot spot mutation screening of RYR1 gene in diagnosis of congenital myopathies

Hot spot mutation screening of RYR1 gene in diagnosis of congenital myopathies

Journal: Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences

Published: October 22, 2014

Value of muscle enzyme analysis in differential diagnosis of childhood myopathic hyper-creatine kinase-emia

Value of muscle enzyme analysis in differential diagnosis of childhood myopathic hyper-creatine kinase-emia

Journal: Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences

Published: February 19, 2014

Episodic central nervous system symptoms with reversible white matter involvement in Chinese patients with X-linked Charcot-Marie-Tooth disease and literatures review

Episodic central nervous system symptoms with reversible white matter involvement in Chinese patients with X-linked Charcot-Marie-Tooth disease and literatures review

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

Published: February 04, 2014

Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy.

Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy.

Journal: World journal of pediatrics : WJP

Published: November 08, 2013

Clinical, pathological and molecular biological characteristics of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode in children

Clinical, pathological and molecular biological characteristics of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode in children

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

Published: March 27, 2013

Mitochondrial respiratory chain complex I deficiency due to 10191T>C mutation in ND3 gene

Mitochondrial respiratory chain complex I deficiency due to 10191T>C mutation in ND3 gene

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: August 18, 2012

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Last Updated: 09/26/2026