Sema Ucar-Kalkan

Ege, Turkey

Last Updated: 09/26/2026

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Found 37 publications

Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.

Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.

Journal: American journal of human genetics

Published: October 13, 2025

Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia

Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia

Journal: Journal of clinical research in pediatric endocrinology

Published: August 28, 2025

Lysinuric protein intolerance: Allogeneic peripheral blood stem cell transplantation for an inborn error of metabolism and immunity.

Lysinuric protein intolerance: Allogeneic peripheral blood stem cell transplantation for an inborn error of metabolism and immunity.

Journal: Molecular genetics and metabolism

Published: August 14, 2025

Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants.

Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants.

Journal: medRxiv : the preprint server for health sciences

Published: July 16, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.

Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 24, 2025

The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder.

The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder.

Journal: European journal of pediatrics

Published: March 30, 2025

Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.

Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.

Journal: European journal of pediatrics

Published: October 01, 2024

Insights into skeletal involvement in adult Gaucher disease: a single-center experience.

Insights into skeletal involvement in adult Gaucher disease: a single-center experience.

Journal: Journal of bone and mineral metabolism

Published: September 22, 2024

Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye.

Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye.

Journal: Turkish journal of ophthalmology

Published: June 28, 2024

Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX.

Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX.

Journal: European journal of clinical nutrition

Published: May 12, 2024

Showing 1-12 of 37

Last Updated: 09/26/2026