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Publications by R. P. McAndrew
Molecular Basis of Dimethylglycine Dehydrogenase Deficiency Associated With Pathogenic Variant H109R
Journal of Inherited Metabolic Disease
Genetics
Related publications
Structure and Biochemical Properties of Recombinant Human Dimethylglycine Dehydrogenase and Comparison to the Disease-Related H109R Variant
FEBS Journal
Biochemistry
Cell Biology
Molecular Biology
Biogenesis of the Covalently Flavinylated Mitochondrial Enzyme Dimethylglycine Dehydrogenase
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Molecular Pathogenic Basis forGABRG2Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome
JAMA Neurology
Neurology
Molecular Basis of Hepatic Carnitine Palmitoyltransferase I Deficiency.
Journal of Clinical Investigation
Medicine
Pyruvate Dehydrogenase Complex Deficiency Is Linked to Regulatory Loop Disorder in the αV138M Variant of Human Pyruvate Dehydrogenase
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Germline SH2B3 Pathogenic Variant Associated With Myelodysplastic Syndrome/Myeloproliferative Neoplasm With Ring Sideroblasts and Thrombocytosis
American Journal of Hematology
Hematology
A Mutation in the E1α Subunit of Pyruvate Dehydrogenase Associated With Variable Expression of Pyruvate Dehydrogenase Complex Deficiency
Pediatric Research
Child Health
Pediatrics
Perinatology
Clinical Spectrum and Molecular Basis of Steroid Sulphatase Deficiency
Pediatric Research
Child Health
Pediatrics
Perinatology
Cortisone-Reductase Deficiency Associated With Heterozygous Mutations in 11 -Hydroxysteroid Dehydrogenase Type 1
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary