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Your search keyword '"Y P, Liu"' showing total 7 results
Start Over Author "Y P, Liu" Journal zhonghua er ke za zhi = chinese journal of pediatrics
7 results on '"Y P, Liu"'

1. [Clinical characteristics and CBS gene analysis of 13 cases with classic homocystinuria]

Author

D X, Li, Z H, Chen, Y, Jin, J Q, Song, M Q, Li, Y P, Liu, X Y, Li, Y X, Chen, Y N, Zhang, G Y, Lyu, L Y, Sun, Z J, Zhu, Y, Zhang, and Y L, Yang

Subjects
Male, Adolescent, Infant, Newborn, Cystathionine beta-Synthase, Infant, Pyridoxine, Vitamins, Methionine, Child, Preschool, Humans, Female, Homocystinuria, Child, Homocysteine, Retrospective Studies
Published
2022

2. [Clinical and genetic studies on 76 patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria]

Author

R X, He, H, Dong, H W, Zhang, Y, Zhang, L L, Kang, H, Li, M, Shen, R, Mo, J Q, Song, Y P, Liu, Z H, Chen, Y, Liu, Y, Jin, M Q, Li, H, Zheng, D X, Li, J, Qin, H F, Zhang, M, Huang, R X, Zheng, D S, Liang, Y P, Tian, H X, Yao, and Y L, Yang

Subjects
Male, Infant, Newborn, Humans, Female, Child, Oxidoreductases, Amino Acid Metabolism, Inborn Errors, Hydrocephalus, Methylmalonic Acid, Retrospective Studies
Published
2021

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

Author

L L, Kang, Y P, Liu, M, Shen, Z H, Chen, J Q, Song, R X, He, Y, Liu, Y, Zhang, H, Dong, M Q, Li, Y, Jin, H, Zheng, Q, Wang, Y, Ding, X Y, Li, D X, Li, H X, Li, X Q, Liu, H J, Xiao, Y W, Jiang, H, Xiong, C Y, Zhang, Z X, Wang, Y, Yuan, D S, Liang, Y P, Tian, and Y L, Yang

Subjects
Male, China, Phenotype, Asian People, Genotype, Mutation, Infant, Newborn, Humans, Female, Genetic Predisposition to Disease, Age of Onset, Amino Acid Metabolism, Inborn Errors, Methylmalonic Acid
Published
2020

4. [Heterogeneous phenotypes, genotypes, treatment and prevention of 1 003 patients with methylmalonic acidemia in the mainland of China]

Author

Y, Liu, Y P, Liu, Y, Zhang, J Q, Song, H, Zheng, H, Dong, Y Y, Ma, T F, Wu, Q, Wang, X Y, Li, Y, Ding, D X, Li, Y, Jin, M Q, Li, Z X, Wang, Y, Yuan, H X, Li, J, Qin, and Y L, Yang

Subjects
Adult, Male, China, Adolescent, Genotype, DNA Mutational Analysis, Infant, Newborn, Infant, Young Adult, Phenotype, Pregnancy, Child, Preschool, Succinate-CoA Ligases, Humans, Female, Carrier Proteins, Child, Oxidoreductases, Amino Acid Metabolism, Inborn Errors, Methylmalonic Acid
Published
2018

5. [Two cases with generalized intracranial calcification due to hereditary folate malabsorption and literature review]

Author

Y, Zhang, Q, Wang, D X, Li, Y P, Liu, J Q, Song, M Q, Li, Y P, Qin, and Y L, Yang

Subjects
Diarrhea, Male, Anemia, Megaloblastic, Developmental Disabilities, Leucovorin, Brain, Calcinosis, Infant, Folic Acid Deficiency, Folic Acid, Asian People, Malabsorption Syndromes, Seizures, Mutation, Humans, Female, Child, Proton-Coupled Folate Transporter, Sequence Deletion
Published
2016

7. [Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria]

Author

Y P, Liu, X Y, Li, Y, Ding, Q, Wang, J Q, Song, Y, Zhang, D X, Li, Y P, Qin, and Y L, Yang

Subjects
Diagnosis, Differential, Mitochondrial Diseases, Asian People, Carnitine, DNA Mutational Analysis, Mutation, Succinate-CoA Ligases, Infant, Newborn, Humans, Infant, Amino Acid Metabolism, Inborn Errors, Magnetic Resonance Imaging, Methylmalonic Acid
Abstract

To study the clinical and genetic features of the patients with secondary methylmalonic aciduria due to succinate-CoA ligase deficiency.From February 2011 to April 2014, 4 Chinese patients with succinate-CoA ligase deficiency and mild methylmalonic aciduria were enrolled in this study. The clinical course, biochemical features, brain MRI findings, and mutations were analyzed.Four patients presented with severe psychomotor retardation, hypotonia, seizures, feeding problems and failure to thrive from the age of one day to 6 months. Three of them had intractable epilepsies. One had hearing defect. Mild methylmalonic aciduria was detected by elevated urine methylmalonic acid and blood propionylcarnitine at the age of 6 months to 2 years and 8 months. Five mutations, c. 550GA, c. 751CT, c. 809AC, c. 961CG and c. 826-2AG in SUCLG1 of three patients were identified. On SUCLA2, one novel mutation, c. 970CT, was found in one patient. After treatment, the disease in all four patients was improved.Four Chinese patients with succinyl-CoA ligase deficiency caused by SUCLG1 and SUCLA2 mutations were noticed by mild methylmalonic aciduria and diagnosed using high-throughput genomic sequencing. Succinate-CoA ligase deficiency is a rare cause of methylmalonic aciduria. Biochemical and gene studies are necessary for the differential diagnoses.

Published
2016

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