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Publications by Elias Touma
Mitochondrial Acetoacetyl-CoA Thiolase (T2) Deficiency: T2-Deficient Patients With “Mild” Mutation(s) Were Previously Misinterpreted as Normal by the Coupled Assay With Tiglyl-CoA
Pediatric Research
Child Health
Pediatrics
Perinatology
Related publications
Essential Fatty Acid Deficiency in Very Long-Chain Acyl-Coa Dehydrogenase Deficient Patients
International Journal of Food and Nutritional Science
A Kinetic Investigation of the Acyl-CoA Oxidase Reaction With the Use of a Novel Spectrophotometric Assay. Inhibition by Acetyl-CoA, CoA and FMN
Biochemical Journal
Biochemistry
Cell Biology
Molecular Biology
Enzymes Catalyzing Crotonyl-CoA Conversion to Acetoacetyl-CoA During the Autotrophic CO2 Fixation in Metallosphaera Sedula
Frontiers in Microbiology
Microbiology
Identification of a Novel Exonic Mutation at -13 From 5' Splice Site Causing Exon Skipping in a Girl With Mitochondrial Acetoacetyl-Coenzyme a Thiolase Deficiency.
Journal of Clinical Investigation
Medicine
A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis
Journal of Inborn Errors of Metabolism and Screening
Child Health
Genetics
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Glutaryl-CoA Dehydrogenase Deficiency
A Nonsense Mutation in the 3-Hydroxy-3-Methylglutaryl-CoA Lyase Gene Produces Exon Skipping in Two Patients of Different Origin With 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
Biochemical Journal
Biochemistry
Cell Biology
Molecular Biology
A Conserved Mammalian Mitochondrial Isoform of Acetyl-CoA Carboxylase ACC1 Provides the Malonyl-CoA Essential for Mitochondrial Biogenesis in Tandem With ACSF3
Biochemical Journal
Biochemistry
Cell Biology
Molecular Biology
P426 Profound Metabolic Acidosis and Hypertriglyceridaemia in Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA (HMG-CoA) Synthase- 2 Deficiency (HMGCS2D)
