Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency

Disorders of riboflavin metabolism

(2019) Shanti Balasubramaniam et al.   JOURNAL OF INHERITED METABOLIC DISEASE

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

(2019) Benjamin O'Callaghan et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial fatty acid oxidation and the electron transport chain comprise a multifunctional mitochondrial protein complex

(2019) Yudong Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency

(2019) Yılmaz Yıldız et al.   PEDIATRIC NEUROLOGY

Formate rescues neural tube defects caused by mutations inSlc25a32

(2018) Jimi Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

(2017) Debby M E I Hellebrekers et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

(2016) Manuel Schiff et al.   NEW ENGLAND JOURNAL OF MEDICINE