Ermira Dervishi

Tirana, Albania

Last Updated: 09/26/2026

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Found 11 publications

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype.

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype.

Journal: The American journal of case reports

Published: January 15, 2026

Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania.

Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania.

Journal: Journal of clinical medicine

Published: September 02, 2025

The First Reported Albanian Patient With Fructose-1,6-Bisphosphatase Deficiency: A Rare Disorder of Fructose Metabolism.

The First Reported Albanian Patient With Fructose-1,6-Bisphosphatase Deficiency: A Rare Disorder of Fructose Metabolism.

Journal: Case reports in medicine

Published: May 25, 2025

Broadening the clinical spectrum of White-Sutton syndrome, implications for co-morbidity with celiac disease in a patient with a novel likely pathogenic variant in the POGZ gene.

Broadening the clinical spectrum of White-Sutton syndrome, implications for co-morbidity with celiac disease in a patient with a novel likely pathogenic variant in the POGZ gene.

Journal: Gene

Published: October 25, 2024

Delayed Diagnosis of Congenital Duodenal Stenosis in a 16-Year-Old Girl.

Delayed Diagnosis of Congenital Duodenal Stenosis in a 16-Year-Old Girl.

Journal: Case reports in medicine

Published: February 22, 2024

Taliglucerase alfa in the longterm treatment of children and adolescents with type 1 Gaucher disease: the Albanian experience.

Taliglucerase alfa in the longterm treatment of children and adolescents with type 1 Gaucher disease: the Albanian experience.

Journal: Frontiers in pediatrics

Published: December 07, 2023

Skeletal Manifestations, Bone Pain, and BMD Changes in Albanian Type 1 Gaucher Patients Treated with Taliglucerase Alfa.

Skeletal Manifestations, Bone Pain, and BMD Changes in Albanian Type 1 Gaucher Patients Treated with Taliglucerase Alfa.

Journal: Journal of osteoporosis

Published: October 03, 2023

Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD.

Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD.

Journal: Balkan journal of medical genetics : BJMG

Published: June 02, 2023

A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS.

A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS.

Journal: Molecular genetics and metabolism reports

Published: August 25, 2022

Genetic characterization of the Albanian Gaucher disease patient population.

Genetic characterization of the Albanian Gaucher disease patient population.

Journal: JIMD reports

Published: May 15, 2020

Constipation as an Atypical Sign of ARC Syndrome - Case Report.

Constipation as an Atypical Sign of ARC Syndrome - Case Report.

Journal: Current health sciences journal

Published: January 29, 2016

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Last Updated: 09/26/2026