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1.
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Hum Mol Genet
; 32(6): 917-933, 2023 03 06.
Article
in English
| MEDLINE | ID: mdl-36190515
2.
Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient.
Int J Mol Sci
; 25(5)2024 Feb 28.
Article
in English
| MEDLINE | ID: mdl-38474060
3.
Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy.
J Inherit Metab Dis
; 46(2): 261-272, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36564894
4.
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
Hum Mutat
; 38(6): 678-691, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28244183
5.
Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene.
Stem Cell Res
; 39: 101503, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31349202
6.
Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene.
Stem Cell Res
; 38: 101469, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31132581
7.
Corrigendum to "Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene" [Stem Cell Research, Volume 38, July 2019, 101469].
Stem Cell Res
; 39: 101513, 2019 Aug.
Article
in English
| MEDLINE | ID: mdl-31365893
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