Mehmet S. Cansever

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 53 publications

Revealing BCKDK Deficiency Under Autism: A Case Report, Therapeutic Outcomes, and Literature Review.

Revealing BCKDK Deficiency Under Autism: A Case Report, Therapeutic Outcomes, and Literature Review.

Journal: Turkish archives of pediatrics

Published: August 01, 2026

Metabolic alterations associated with immune dysfunction in lysinuric protein intolerance.

Metabolic alterations associated with immune dysfunction in lysinuric protein intolerance.

Journal: Molecular genetics and metabolism

Published: May 23, 2026

Clinical trajectory and long-term management of 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency: Insights from a lifespan cohort.

Clinical trajectory and long-term management of 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency: Insights from a lifespan cohort.

Journal: Molecular genetics and metabolism

Published: May 19, 2026

Sitosterolemia as a treatable and underrecognized cause of chronic thrombocytopenia beyond ITP: A targeted screening study.

Sitosterolemia as a treatable and underrecognized cause of chronic thrombocytopenia beyond ITP: A targeted screening study.

Journal: Journal of clinical lipidology

Published: May 12, 2026

Early laboratory indicators of acute metabolic decompensation during emergency presentations in pediatric maple syrup urine disease.

Early laboratory indicators of acute metabolic decompensation during emergency presentations in pediatric maple syrup urine disease.

Journal: European journal of pediatrics

Published: February 27, 2026

Is mild citrullinemia type I truly benign? a study of long-term clinical outcomes.

Is mild citrullinemia type I truly benign? a study of long-term clinical outcomes.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 18, 2025

Symptomatic Benefit of Acetyl-DL-Leucine for Cerebellar Ataxia in Juvenile Tay-Sachs Disease: A Pediatric Case and Literature Review.

Symptomatic Benefit of Acetyl-DL-Leucine for Cerebellar Ataxia in Juvenile Tay-Sachs Disease: A Pediatric Case and Literature Review.

Journal: Molecular syndromology

Published: November 25, 2025

Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.

Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.

Journal: Metabolic brain disease

Published: October 06, 2025

Early prediction of retinopathy of prematurity using targeted metabolomic profiling of 6-hydroxymethylpterin in preterm infants.

Early prediction of retinopathy of prematurity using targeted metabolomic profiling of 6-hydroxymethylpterin in preterm infants.

Journal: BMC ophthalmology

Published: July 14, 2025

Evaluating the Humoral Immune Response to Sinovac-Coronavac in a Pediatric Patient with Propionic Acidemia: A Case Study.

Evaluating the Humoral Immune Response to Sinovac-Coronavac in a Pediatric Patient with Propionic Acidemia: A Case Study.

Journal: Turkish archives of pediatrics

Published: July 10, 2025

Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening.

Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening.

Journal: Orphanet journal of rare diseases

Published: July 04, 2025

The clinical utility of short-term protein substitute use during intercurrent illness in BH4-responsive phenylketonuria.

The clinical utility of short-term protein substitute use during intercurrent illness in BH4-responsive phenylketonuria.

Journal: Molecular genetics and metabolism

Published: May 12, 2025

Showing 1-12 of 53

Last Updated: 09/26/2026