Engin A. Kose

Ankara, Turkey

Last Updated: 09/26/2026

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Found 102 publications

A Case of Paroxysmal Exercise-Induced Dyskinesia Expands the Phenotypic spectrum of NAXE-Related Encephalopathy.

A Case of Paroxysmal Exercise-Induced Dyskinesia Expands the Phenotypic spectrum of NAXE-Related Encephalopathy.

Journal: Journal of child neurology

Published: July 24, 2026

Optic Glioma in a Child With Alpha-Mannosidosis: A Previously Unreported Co-occurrence.

Optic Glioma in a Child With Alpha-Mannosidosis: A Previously Unreported Co-occurrence.

Journal: Pediatric blood & cancer

Published: April 24, 2026

Prescribing patterns of vitamin and cofactor therapies in genetically confirmed primary mitochondrial diseases.

Prescribing patterns of vitamin and cofactor therapies in genetically confirmed primary mitochondrial diseases.

Journal: Molecular genetics and metabolism

Published: April 22, 2026

Dietary Protein Modulation, Gut Microbiota, and Metabolic Control in Methylmalonic Acidemia: A Prospective Longitudinal Study.

Dietary Protein Modulation, Gut Microbiota, and Metabolic Control in Methylmalonic Acidemia: A Prospective Longitudinal Study.

Journal: Journal of inherited metabolic disease

Published: January 06, 2026

Untargeted Metabolomic and Lipidomic Profiling Reveals Distinct Biochemical Patterns in Treated Biotinidase Deficiency.

Untargeted Metabolomic and Lipidomic Profiling Reveals Distinct Biochemical Patterns in Treated Biotinidase Deficiency.

Journal: International journal of molecular sciences

Published: November 12, 2025

Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive review.

Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive review.

Journal: Journal of human genetics

Published: September 29, 2025

Evaluation of scientific validity and appropriateness of artificial intelligence-assisted ChatGPT advices in dietary treatment of methylmalonic acidemia.

Evaluation of scientific validity and appropriateness of artificial intelligence-assisted ChatGPT advices in dietary treatment of methylmalonic acidemia.

Journal: Nutricion hospitalaria

Published: September 29, 2025

Cardiac involvement in pediatric patients with inherited metabolic disease.

Cardiac involvement in pediatric patients with inherited metabolic disease.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: September 21, 2025

Correction to: Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes.

Correction to: Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes.

Journal: European journal of pediatrics

Published: September 05, 2025

Two Countries, One Metabolic Dilemma: Nutritional Management of Concurrent Maple Syrup Urine Disease and Type 1 Diabetes Mellitus.

Two Countries, One Metabolic Dilemma: Nutritional Management of Concurrent Maple Syrup Urine Disease and Type 1 Diabetes Mellitus.

Journal: Journal of clinical research in pediatric endocrinology

Published: August 21, 2025

Two Siblings with LRPPRC Mutation: Mitochondrial Complex IV Deficiency: Case Report.

Two Siblings with LRPPRC Mutation: Mitochondrial Complex IV Deficiency: Case Report.

Journal: Molecular syndromology

Published: August 13, 2025

Methylene Blue for Refractory Shock in A Neonate.

Methylene Blue for Refractory Shock in A Neonate.

Journal: Zeitschrift fur Geburtshilfe und Neonatologie

Published: June 16, 2025

Showing 1-12 of 102

Last Updated: 09/26/2026