Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients

The variants of electron transfer flavoprotein (<i>ETFA</i>, <i>ETFB</i>) and ETF dehydrogenase (<i>ETFDH</i>) are the leading cause of glutaric aciduria type II (GA-II). In this study, we identified 13 patients harboring six variants of two genes associated with...

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Bibliographic Details
Main Authors: Amanat Ali, Fatmah Saeed Ali Almesmari, Nahid Al Dhahouri, Arwa Mohammad Saleh Ali, Mohammed Ahmed Ali Mohamed Ahmed Aldhanhani, Ranjit Vijayan, Amal Al Tenaiji, Aisha Al Shamsi, Jozef Hertecant, Fatma Al Jasmi
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Genes
Subjects:
electron transfer flavoprotein dehydrogenase
glutaric aciduria type II
metabolic acidosis
recurrent vomiting
Online Access:https://www.mdpi.com/2073-4425/12/9/1334

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https://www.mdpi.com/2073-4425/12/9/1334

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