Reactome | Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency

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Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency Show undefined attributes

author	[Person:9858051] Arribas-Carreira, L [Person:6787452] Dallabona, C [Person:9858044] Swanson, MA [Person:9858035] Farris, J [Person:9858036] �stergaard, E [Person:5678431] Tsiakas, K [Person:9858043] Hempel, M [Person:9858038] Aquaviva-Bourdain, C [Person:9858033] Koutsoukos, S [Person:9858031] Stence, NV [Person:9858049] Magistrati, M [Person:2032884] Spector, EB [Person:9858045] Kronquist, K [Person:9858032] Christensen, M [Person:9858029] Karstensen, HG [Person:9856702] Feichtinger, RG [Person:9858042] Achleitner, MT [Person:9858030] Lawrence Merritt Ii, J [Person:9858034] P�rez, B [Person:200214] Ugarte, M [Person:3781905] Grunewald, S [Person:9858050] Riela, AR [Person:9858046] Julve, N [Person:9858052] Arnoux, JB [Person:9816852] Haldar, K [Person:6784486] Donnini, C [Person:189231] Santer, R [Person:9858028] Lund, AM [Person:5696075] Mayr, JA [Person:5693121] Rodr�guez-Pombo, P [Person:198515] Van Hove, JLK
created	[InstanceEdit:9858047] Stephan, Ralf, 2024-01-10
dbId	9858041
displayName	Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency
journal	Hum Mol Genet
pages	917-933
pubMedIdentifier	36190515
schemaClass	LiteratureReference
title	Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency
url	http://www.ncbi.nlm.nih.gov/pubmed/36190515
volume	32
year	2023

Referrals

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[Pathway:R-HSA-9857492] Protein lipoylation

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