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Rare cause of ketolysis: Monocarboxylate transporter 1 deficiency

Background. Monocarboxylate transporter 1 (MCT1) deficiency (MIM #616095) is a relatively new identified cause of recurrent ketoacidosis triggered by fasting or infections. MCT1 was first described in 2014 by van Hasselt et al. to result from both homozygous and heterozygous mutations in the...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Ayşe Ergül Bozacı, Aysel Tekmenuray Ünal
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Hacettepe University Institute of Child Health 2022-08-01
Saila:The Turkish Journal of Pediatrics
Gaiak:
Sarrera elektronikoa:https://turkjpediatr.org/article/view/204
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