R. He

发表

A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia

D. Liang, Yanling Yang, Zhijun Zhu, 2020, Journal of inherited metabolic disease.

Galectin-7 overexpression destroy airway epithelial barrier in transgenic mice.

Shunying Zhao, Chunju Zhou, R. He, 2020, Integrative zoology.

Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria

Yanling Yang, Yi Liu, Dongxiao Li, 2022, PloS one.

Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment

Fang Wang, Yanling Yang, Yi Liu, 2022, Orphanet Journal of Rare Diseases.

Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital

Yaping Tian, Yanling Yang, Yongtong Cao, 2022, Orphanet Journal of Rare Diseases.

Mycoplasma pneumoniae pneumonia associated thrombosis at Beijing Children’s hospital

Jinrong Liu, R. Wu, Huiming Li, 2020, BMC infectious diseases.

[The phenotypes and genotypes in 314 patients with isolated methylmalonic acidemia].

D. Liang, Z. Chen, Q. Wang, 2020, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Eight novel mutations detected from eight Chinese patients with isovaleric acidemia.

Yanhan Li, Yanling Yang, Yi Liu, 2019, Clinica chimica acta; international journal of clinical chemistry.

Easily Misdiagnosed cblC Deficiency in Adolescents: the Clinical and Metabolic Studies

Zhehui Chen, Yanling Yang, Yi Liu, 2022 .

Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency

Zhehui Chen, Yanling Yang, Desheng Liang, 2020, Neurology.

Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases

Yaping Tian, D. Liang, Zhehui Chen, 2020, Orphanet Journal of Rare Diseases.

One Potential Hotspot ACADVL Mutation in Chinese Patients with Very-long-chain Acyl-coenzyme A Dehydrogenase Deficiency.

Yanling Yang, Yi Liu, Lulu Kang, 2019, Clinica chimica acta; international journal of clinical chemistry.

Case report: An asymptomatic mother with an inborn error of cobalamin metabolism (cblC) detected through high homocysteine levels during prenatal diagnosis

Yanling Yang, Yi Liu, Lulu Kang, 2023, Frontiers in Nutrition.

Clinical features and “early” corticosteroid treatment outcome of pediatric mycoplasma pneumoniae pneumonia

Jinrong Liu, Shunying Zhao, Liyong Liu, 2023, Frontiers in Cellular and Infection Microbiology.

Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population

Yanhan Li, Yanling Yang, Jun Li, 2019, Kidney and Blood Pressure Research.

Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy Type 1 Using Rare Variant Linkage Analysis and Long Read Genome Sequencing

P. Zhang, J. Seidman, C. Seidman, 2023, medRxiv.

Effective long-term sirolimus treatment in hypoxemia mainly due to intrapulmonary right-to-left shunt in a patient with multiple vascular anomalies

Jinrong Liu, Shunying Zhao, Haiming Yang, 2023, Orphanet Journal of Rare Diseases.

Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria

Yanling Yang, Yi Liu, Dongxiao Li, 2022, PloS one.

Mycoplasma pneumoniae pneumonia associated thrombosis at Beijing Children’s hospital

Jinrong Liu, R. Wu, Huiming Li, 2020, BMC infectious diseases.