Jin-qing Song

发表

Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome.

Yanling Yang, Chongchen Zhou, Yi Liu, 2020, European journal of medical genetics.

Outcome of organic acidurias in China.

Y. Hasegawa, S. Yamaguchi, Yuwu Jiang, 2008, Annals of the Academy of Medicine, Singapore.

[Reye syndrome and sudden death symptoms after oral administration of nimesulide due to upper respiratory tract infection in a boy].

Yanling Yang, Dongxiao Li, Ying Jin, 2018, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

[Psychomotor retardation and intermitent convulsions for 8 months in an infant].

Yanling Yang, Dongxiao Li, Yuan Ding, 2016, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

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.

Nutritional and metabolic findings in patients with Prader-Willi syndrome diagnosed in early infancy

Yanling Yang, Jin-qing Song, Yupeng Liu, 2012, Journal of pediatric endocrinology & metabolism : JPEM.

Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations

Yanling Yang, Yi Liu, Dongxiao Li, 2019, Journal of Human Genetics.

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.

Analysis of four Chinese patients with neonatal–onset isovaleric acidemia

Yuan Ding, Xi-yuan Li, Yupeng Liu, 2015 .

Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies

Yanling Yang, Yuan Ding, Xi-yuan Li, 2015, Brain and Development.

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.

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.

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.

A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.

Yanling Yang, Dongxiao Li, Ying Jin, 2017, European journal of medical genetics.

Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses.

Shangzhi Huang, Yanling Yang, Yuan Ding, 2015, Gene.

Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1

Yanling Yang, Yuan Ding, Xi-yuan Li, 2014, Brain and Development.

Analysis of the Mitochondrial Complex I-V Enzyme Activities of Peripheral Leukocytes in Oxidative Phosphorylation Disorders

Yanling Yang, Jin-qing Song, Yupeng Liu, 2011, Journal of child neurology.

Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis.

Yanling Yang, Yuan Ding, Xi-yuan Li, 2015, European journal of medical genetics.

Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria

Yanling Yang, Dongxiao Li, Yuan Ding, 2018, World Journal of Pediatrics.

Prenatal diagnosis of citrullinemia type 1: A Chinese family with a novel mutation of the ASS1 gene

Yanling Yang, Xi-yuan Li, Yupeng Liu, 2014, Brain and Development.

Medium‐chain acyl‐coenzyme A dehydrogenase deficiency: Six cases in the Chinese population

Yanhan Li, Yanling Yang, Yi Liu, 2019, Pediatrics international : official journal of the Japan Pediatric Society.

Two compound frame-shift mutations in succinate dehydrogenase gene of a Chinese boy with encephalopathy

Zhi-long Wang, L. Zou, Yanling Yang, 2014, Brain and Development.

Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy

Yanling Yang, Yi Liu, Lulu Kang, 2020, Frontiers in Neurology.

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.

A study of 133 Chinese children with mitochondrial respiratory chain complex I deficiency

L. Zou, Q. Wang, Y. Ding, 2015, Clinical genetics.