Mubeccel Demirkol

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 20 publications

Familial hypercholesterolaemia in children: diagnostic profile and factors influencing diagnosis in a tertiary referral centre.

Familial hypercholesterolaemia in children: diagnostic profile and factors influencing diagnosis in a tertiary referral centre.

Journal: Cardiology in the young

Published: June 25, 2026

Factors affecting the success of follow-up and treatment of adults with phenylketonuria diagnosed by newborn screening.

Factors affecting the success of follow-up and treatment of adults with phenylketonuria diagnosed by newborn screening.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: February 17, 2026

Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.

Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.

Journal: Human genomics

Published: December 11, 2025

Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions.

Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions.

Journal: European journal of pediatrics

Published: December 11, 2024

A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.

A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.

Journal: Orphanet journal of rare diseases

Published: October 21, 2024

Variable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literature.

Variable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literature.

Journal: JIMD reports

Published: December 10, 2023

Under what conditions is the intra-articular steroid injection superior to nonsteroidal anti-inflammatory drugs for treating sacroiliac joint pain?

Under what conditions is the intra-articular steroid injection superior to nonsteroidal anti-inflammatory drugs for treating sacroiliac joint pain?

Journal: European review for medical and pharmacological sciences

Published: November 17, 2023

Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.

Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.

Journal: Annals of human genetics

Published: June 09, 2023

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.

Journal: Frontiers in genetics

Published: March 21, 2023

Cardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders.

Cardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders.

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

Published: December 12, 2021

Measurement of serum vitamin B12-related metabolites in newborns: implications for new cutoff values to detect B12 deficiency.

Measurement of serum vitamin B12-related metabolites in newborns: implications for new cutoff values to detect B12 deficiency.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: June 18, 2019

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

Journal: Molecular genetics and metabolism

Published: April 27, 2017

Showing 1-12 of 20

Last Updated: 09/26/2026