Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience-Reference-Cited by-同舟云学术

Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience

Published:2021-11 Issue:11 Volume:64 Page:104339
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Gumus Ersin^ORCID,Karhan Asuman Nur,Hizarcioglu-Gulsen Hayriye^ORCID,Demir Hulya,Ozen Hasan,Saltik Temizel Inci Nur,Dokmeci (Emre) Serap,Yuce Aysel

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference42 articles.

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3. Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study;Anderson;J. Inherit. Metab. Dis.,2014

4. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1;Andersson;Pediatrics,2008

5. Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease;Andrade-Campos;Orphanet J. Rare Dis.,2017

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1. Case Report: Novel Pathogenic Variant Detected in Two Siblings with Type 1 Gaucher Disease;Endocrine, Metabolic & Immune Disorders - Drug Targets;2023-12

2. Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study;Biomedicines;2023-10-22

3. Overall assessment of patients with type 1 Gaucher disease: a single-centre’s experience;Journal of Rare Diseases;2023-10-02

4. Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis;European Journal of Medical Genetics;2023-06

5. Quantitation of a Urinary Profile of Biomarkers in Gaucher Disease Type 1 Patients Using Tandem Mass Spectrometry;Diagnostics;2022-06-08