Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.

Tavoulari, Sotiria; Lacabanne, Denis; Thangaratnarajah, Chancievan; Kunji, Edmund R S

Tavoulari, Sotiria; Lacabanne, Denis; Thangaratnarajah, Chancievan; Kunji, Edmund R S.

Afiliação

Tavoulari S; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, The Keith Peters Building, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0XY, UK.
Lacabanne D; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, The Keith Peters Building, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0XY, UK.
Thangaratnarajah C; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, The Keith Peters Building, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0XY, UK.
Kunji ERS; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, The Keith Peters Building, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0XY, UK. Electronic address: ek@mrc-mbu.cam.ac.uk.

Trends Endocrinol Metab ; 33(8): 539-553, 2022 08.

Article em En | MEDLINE | ID: mdl-35725541

Assuntos

Citrulinemia; Adulto; Ácido Aspártico/genética; Cálcio; Citrulinemia/genética; Citrulinemia/metabolismo; Glutamatos/genética; Humanos; Recém-Nascido; Proteínas de Transporte da Membrana Mitocondrial/genética; Mutação

Palavras-chave

SLC25A12; SLC25A13; calcium regulation; mitochondrial carrier family; transport; urea cycle disorders

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Citrulinemia Tipo de estudo: Prognostic_studies Limite: Adult / Humans / Newborn Idioma: En Revista: Trends Endocrinol Metab Assunto da revista: ENDOCRINOLOGIA / METABOLISMO Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google