Sema K. Ucar

Ege, 35100, Turkey

Last Updated: 09/26/2026

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Found 46 publications

Harmonizing Perspectives on MPS II Care in Türkiye: A Delphi Study Towards Treatment Management Consensus.

Harmonizing Perspectives on MPS II Care in Türkiye: A Delphi Study Towards Treatment Management Consensus.

Journal: Healthcare (Basel, Switzerland)

Published: February 20, 2026

Evaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data.

Evaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data.

Journal: Neuropediatrics

Published: December 26, 2025

Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World Study.

Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World Study.

Journal: Journal of inherited metabolic disease

Published: December 22, 2025

Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.

Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.

Journal: Journal of inherited metabolic disease

Published: October 24, 2025

Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.

Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.

Journal: Diagnostics (Basel, Switzerland)

Published: September 30, 2025

Untargeted Plasma Metabolomics Extends the Biomarker Profile of Mitochondrial Neurogastrointestinal Encephalomyopathy.

Untargeted Plasma Metabolomics Extends the Biomarker Profile of Mitochondrial Neurogastrointestinal Encephalomyopathy.

Journal: International journal of molecular sciences

Published: July 29, 2025

A CRISPR/Cas9 knockout model for AADC deficiency reveals structural loop3 instability as a key driver of catalytic failure.

A CRISPR/Cas9 knockout model for AADC deficiency reveals structural loop3 instability as a key driver of catalytic failure.

Journal: The FEBS journal

Published: June 01, 2025

Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.

Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.

Journal: Molecular genetics and metabolism

Published: May 31, 2025

Orofacial manifestations in mucopolysaccharidoses: a comprehensive clinical and radiographic evaluation of 35 pediatric cases.

Orofacial manifestations in mucopolysaccharidoses: a comprehensive clinical and radiographic evaluation of 35 pediatric cases.

Journal: Head & face medicine

Published: May 21, 2025

Next generation sequencing in children with isolated congenital cataract.

Next generation sequencing in children with isolated congenital cataract.

Journal: European journal of ophthalmology

Published: May 08, 2025

Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.

Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.

Journal: Journal of clinical lipidology

Published: March 25, 2025

Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.

Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.

Journal: Journal of inherited metabolic disease

Published: February 14, 2025

Showing 1-12 of 46

Last Updated: 09/26/2026