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Publications by Taraka R. Donti
Expanding the Phenotypic Spectrum of Succinyl-CoA Ligase Deficiency Through Functional Validation of a New SUCLG1 Variant
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients With Organic Acidemias Despite Dietary Meat Restrictions
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Related publications
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
Expanding the Phenotypic Spectrum in RDH12-associated Retinal Disease
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
Expanding the Phenotypic Spectrum ofECEL1-related Congenital Contracture Syndromes
Clinical Genetics
Genetics
Diabetes-Associated Nitration of Tyrosine and Inactivation of Succinyl-CoA:3-Oxoacid CoA-transferase
American Journal of Physiology - Heart and Circulatory Physiology
Cardiovascular Medicine
Physiology
Cardiology
Expanding the Spectrum of Recombination-Activating Gene 1 Deficiency: A Family With Early-Onset Autoimmunity
Journal of Allergy and Clinical Immunology
Allergy
Immunology
Succinyl-CoA:3-Sulfinopropionate CoA-Transferase From Variovorax Paradoxus Strain TBEA6, a Novel Member of the Class III Coenzyme a (CoA)-Transferase Family
Journal of Bacteriology
Microbiology
Molecular Biology
Novel Reaction of Succinyl Coenzyme a (Succinyl-CoA) Synthetase: Activation of 3-Sulfinopropionate to 3-Sulfinopropionyl-CoA in Advenella Mimigardefordensis Strain DPN7T During Degradation of 3,3'-Dithiodipropionic Acid
Journal of Bacteriology
Microbiology
Molecular Biology
AP4B1-associated Hereditary Spastic Paraplegia: Expansion of Phenotypic Spectrum Related to Homozygous p.Thr387fs Variant
Journal of Applied Genetics
Medicine
Genetics
Phenotypic Spectrum of the Tubulin-Related Disorders and Functional Implications of Disease-Causing Mutations
Current Opinion in Genetics and Development
Genetics
Developmental Biology