Inborn errors of metabolism

A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis

Hyperglycemia / Inborn errors of metabolism / Inherited Metabolic Diseases / Ketone Bodies / Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency

Deficiencia cerebral de creatina: primeros pacientes españoles con mutaciones en el gen GAMT

Creatine / Magnetic Resonance Spectroscopy / Adolescent / Language Disorder / Spain / Mental Retardation / Humans / Child / Mutation / Female / Inborn errors of metabolism / Male / Middle Aged / Treatment Response / Medicina Clinica / Movement Disorder / Mental Retardation / Humans / Child / Mutation / Female / Inborn errors of metabolism / Male / Middle Aged / Treatment Response / Medicina Clinica / Movement Disorder

Carnitine Palmitoyltransferase Deficiencies

Membrane Proteins / Mitochondria / Molecular Genetics / Sudden Death / Pregnancy / Humans / Mutation / Female / Inborn errors of metabolism / Fatty Acid Oxidation / Clinical Sciences / Fatty Acid / Prenatal Diagnosis / Amino Acid Profile / Clinical Presentation / Tissue Specificity / Humans / Mutation / Female / Inborn errors of metabolism / Fatty Acid Oxidation / Clinical Sciences / Fatty Acid / Prenatal Diagnosis / Amino Acid Profile / Clinical Presentation / Tissue Specificity

Aromatase Deficiency, a Rare Syndrome: Case Report

Rare diseases / Humans / Female / Inborn errors of metabolism / Male / Male Infertility / Pedigree / Gynecomastia / Family Health / Estrogens / Adult / Syndrome / Estradiol / DNA mutational analysis / Male Infertility / Pedigree / Gynecomastia / Family Health / Estrogens / Adult / Syndrome / Estradiol / DNA mutational analysis

Red cell pyruvate kinase deficiency in neonatal jaundice cases in India

Pediatrics / Tropical Medicine / India / Humans / Pyruvate Kinase / Cord Blood / Female / Inborn errors of metabolism / Male / Newborn Infant / Neonatal Jaundice / Erythrocytes / Hemolytic Anemia / Cord Blood / Female / Inborn errors of metabolism / Male / Newborn Infant / Neonatal Jaundice / Erythrocytes / Hemolytic Anemia

Deficiencia cerebral de creatina: primeros pacientes españoles con mutaciones en el gen GAMT

Creatine / Magnetic Resonance Spectroscopy / Adolescent / Language Disorder / Spain / Mental Retardation / Humans / Child / Mutation / Female / Inborn errors of metabolism / Male / Middle Aged / Treatment Response / Medicina Clinica / Movement Disorder / Mental Retardation / Humans / Child / Mutation / Female / Inborn errors of metabolism / Male / Middle Aged / Treatment Response / Medicina Clinica / Movement Disorder

Biochemical Correction of Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency After Portal Vein Injection of rAAV8-SCAD

Liver / Medical Biotechnology / Mice / Animals / Inborn errors of metabolism / Cytomegalovirus / Clinical Sciences / L-carnitine / Deficiency / Deficit / Portal vein / Cytomegalovirus / Clinical Sciences / L-carnitine / Deficiency / Deficit / Portal vein

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