Genetic characterization of the Albanian Gaucher disease patient population-Reference-Cited by-同舟云学术

Genetic characterization of the Albanian Gaucher disease patient population

Published:2020-11-17 Issue:1 Volume:57 Page:52-57
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Cullufi Paskal¹,Tabaku Mirela¹,Velmishi Virtut¹,Gjikopulli Agim¹,Tomori Sonila¹,Dervishi Ermira¹,Tako Aferdita¹,Leubauer Anika²,Westenberger Ana²³^ORCID,Cozma Claudia²,Beetz Christian²^ORCID,Bauer Peter²^ORCID,Wirth Stefan⁴,Rolfs Arndt²⁵

Affiliation:

1. Pediatric Department University Hospital “Mother Teresa” Tirana Albania

2. CENTOGENE GmbH Rostock Germany

3. Institute of Neurogenetics University of Lübeck Lübeck Germany

4. Department of Pediatrics HELIOS University Hospital Wuppertal, Centre for Clinical and Translational Research Wuppertal Germany

5. Medical Faculty University of Rostock Rostock Germany

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12167

Reference32 articles.

1. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

2. A reappraisal of Gaucher disease – diagnosis and disease management algorithms;Mistry PK;Am J Hematol,2010

3. Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients

4. Glucosylsphingosine is a reliable response biomarker in G aucher disease

5. PastoresGM HughesDA. Gaucher Disease;1993. Available from:http://www.ncbi.nlm.nih.gov/pubmed/20301446.

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2. Long‐term follow‐up of a patient with neonatal form of Gaucher disease;American Journal of Medical Genetics Part A;2023-04-03

3. Research Article Frequency of GBA gene variants in complex disease patients in Southwestern Colombia;Genetics and Molecular Research;2021