Sonila Tomori

Tirana, Albania

Last Updated: 09/26/2026

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Found 20 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

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: January 13, 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

Challenges in diagnosis and treatment of cushing disease in a 12-year-old boy. Case report.

Challenges in diagnosis and treatment of cushing disease in a 12-year-old boy. Case report.

Journal: La Pediatria medica e chirurgica : Medical and surgical pediatrics

Published: April 25, 2024

Stigmatising Attitudes Towards Mental Health Conditions Among Medical Students In Five South-Eastern European Countries.

Stigmatising Attitudes Towards Mental Health Conditions Among Medical Students In Five South-Eastern European Countries.

Journal: Zdravstveno varstvo

Published: April 10, 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

An expert review of clozapine in Eastern European countries: Use, regulations and pharmacovigilance.

An expert review of clozapine in Eastern European countries: Use, regulations and pharmacovigilance.

Journal: Schizophrenia research

Published: June 01, 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

Non-pharmacological interventions for schizophrenia-analysis of treatment guidelines and implementation in 12 Southeast European countries.

Non-pharmacological interventions for schizophrenia-analysis of treatment guidelines and implementation in 12 Southeast European countries.

Journal: Schizophrenia (Heidelberg, Germany)

Published: September 30, 2021

Non-pharmacological treatments for schizophrenia in Southeast Europe: An expert survey.

Non-pharmacological treatments for schizophrenia in Southeast Europe: An expert survey.

Journal: The International journal of social psychiatry

Published: August 16, 2021

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Last Updated: 09/26/2026