Fatih S. Ezgu

Emniyet Street
Yenimahalle, Turkey

Last Updated: 09/26/2026

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Found 120 publications

Left Ventricular Global Longitudinal Strain as an Early Predictor of Disease Severity Progression in Gaucher Disease Type 1.

Left Ventricular Global Longitudinal Strain as an Early Predictor of Disease Severity Progression in Gaucher Disease Type 1.

Journal: Echocardiography (Mount Kisco, N.Y.)

Published: March 12, 2026

Self-Reported Health Burden and Quality-of-Life-Related Concerns in Patients With Achondroplasia: A Survey From Türkiye.

Self-Reported Health Burden and Quality-of-Life-Related Concerns in Patients With Achondroplasia: A Survey From Türkiye.

Journal: Clinical endocrinology

Published: February 27, 2026

Transcriptomic Profiling of Monozygotic Twins with Type 1 Gaucher Disease.

Transcriptomic Profiling of Monozygotic Twins with Type 1 Gaucher Disease.

Journal: Life (Basel, Switzerland)

Published: February 18, 2026

Phenotypes of Elosulfase Alfa-Induced Immediate Hypersensitivity Reactions and Long-term Outcomes of Desensitization in Mucopolysaccharidosis IVA.

Phenotypes of Elosulfase Alfa-Induced Immediate Hypersensitivity Reactions and Long-term Outcomes of Desensitization in Mucopolysaccharidosis IVA.

Journal: International archives of allergy and immunology

Published: January 14, 2026

Mucopolysaccharidosis or Skeletal Dysplasia? Clinical and Radiologic Clues for Differential Diagnosis Based on Difficult Cases

Mucopolysaccharidosis or Skeletal Dysplasia? Clinical and Radiologic Clues for Differential Diagnosis Based on Difficult Cases

Journal: Journal of clinical research in pediatric endocrinology

Published: December 04, 2025

Markers of Inflammation and Autoinflammation in Patients With Gaucher Disease: A Single-Center Observational Study.

Markers of Inflammation and Autoinflammation in Patients With Gaucher Disease: A Single-Center Observational Study.

Journal: Clinical pediatrics

Published: November 21, 2025

Gene Therapies: Any Merit in Nephrology?

Gene Therapies: Any Merit in Nephrology?

Journal: Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia

Published: November 03, 2025

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

Journal: Journal of inherited metabolic disease

Published: October 31, 2025

Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease.

Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease.

Journal: Genetics in medicine open

Published: September 16, 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

Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review.

Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review.

Journal: Molecular genetics and metabolism

Published: August 05, 2025

Alterations in gut microbiota composition in children with methylmalonic acidemia, propionic acidemia, and maple syrup urine disease.

Alterations in gut microbiota composition in children with methylmalonic acidemia, propionic acidemia, and maple syrup urine disease.

Journal: European journal of clinical nutrition

Published: August 04, 2025

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Last Updated: 09/26/2026