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TürkiyeResearch and clinical trials

In Türkiye, enzyme therapy improved blood values and shrank the spleen in 29 patients with Gaucher disease

Peer-reviewed publication

A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.

Records of 29 people with type 1 Gaucher disease at a single center in Türkiye were reviewed. In more than half of the patients, the parents were blood relatives. Before diagnosis, the most common complaint was nosebleeds. With enzyme therapy, blood values rose. The liver and spleen became smaller.

What does it mean for patients and families?

Gaucher disease may be considered in people with unexplained nosebleeds, a large spleen or bone pain. People with similar complaints in the family can consult a doctor.

Source

PubMed (Journal of Personalized Medicine): Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study

Scientific paper: Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study. Journal of Personalized Medicine, 2025. DOI: 10.3390/jpm15030109 · PubMed 40137425

The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).

This page is translated from the Turkish original.

This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

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This page was translated from Turkish by the Doktorclub editorial team.