Ardeshir A. Monavari

Clinical Course, Early Diagnosis, Treatment, and Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency

G. F. Hoffmann, S. Athanassopoulos, A Burlina et al. · Neuropediatrics · 1996 · 227 citations

Life Sciences, Neurology, Nutrition +15

Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

Peter M. van Hasselt, Sacha Ferdinandusse, Glen R. Monroe et al. · New England Journal of Medicine · 2014 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

Arunabha Ghosh, Hélene Schlecht, Lesley Heptinstall et al. · Archives of Disease in Childhood · 2017 · 70 citations · Full text

Life Sciences, Genetics, Pediatrics +16

<i>N-</i>Glycan Abnormalities in Children with Galactosemia

Karen P. Coss, Colin P. Hawkes, B Adamczyk et al. · Journal of Proteome Research · 2013 · 53 citations · Full text

Life Sciences, Biochemistry, Pediatrics +17

A recurrent mitochondrial p.Trp22Arg <i>NDUFB3</i> variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Charlotte L. Alston, Caoimhe Howard, Monika Oláhová et al. · Journal of Medical Genetics · 2016 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16