Associated Papers
Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient.
Arribas-Carreira L et al.
International Journal of Molecular Sciences, 2024
[Responses to a reader's question on the article "Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous"].
Unknown Author
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2021
Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease.
Farris J et al.
Plos Genetics, 2021
Novel GLDC Compound Heterozygous Variant Leading to Nonketotic Hyperglycinemia: Case Report and Literature Review.
Cao Y et al.
Frontiers in Pediatrics, 2021
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.
Farris J et al.
Plos Computational Biology, 2020
Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene.
Arribas-Carreira L et al.
Stem Cell Research, 2019
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
Bravo-Alonso I et al.
Human Mutation, 2017
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Coughlin CR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test.
Kure S et al.
Annals of Neurology, 2006
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
Kure S et al.
Human Mutation, 2006
Atypical variants of nonketotic hyperglycinemia.
Dinopoulos A et al.
Molecular Genetics and Metabolism, 0
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