José E. Abdenur

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Priya S. Kishnani, Stephanie Austin, José E. Abdenur et al. · Genetics in Medicine · 2014 · 495 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 352 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +16

Molecular and clinical genetics of mitochondrial diseases due to<i>POLG</i>mutations

Lee-Jun Wong, Robert K. Naviaux, Nicola Brunetti‐Pierri et al. · Human Mutation · 2008 · 291 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

Keren Carss, Elizabeth Stevens, A. Reghan Foley et al. · The American Journal of Human Genetics · 2013 · 240 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Louis‐Daniel Brun, Lock Hock Ngu, Wee Teik Keng et al. · Neurology · 2010 · 225 citations

Medicine, Neurology, Neuroscience +17