Clinical implementation of gene panel testing for lysosomal storage diseases-Reference-Cited by-同舟云学术

Clinical implementation of gene panel testing for lysosomal storage diseases

Published:2018-12-11 Issue:2 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Gheldof Alexander¹²^ORCID,Seneca Sara¹²,Stouffs Katrien¹²,Lissens Willy¹²,Jansen Anna³,Laeremans Hilde⁴,Verloo Patrick⁵,Schoonjans An‐Sofie⁶,Meuwissen Marije⁷,Barca Diana⁸⁹,Martens Geert¹⁰,De Meirleir Linda³

Affiliation:

1. Center for Medical Genetics UZ Brussel Brussels Belgium

2. Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Group Vrije Universiteit Brussel Brussels Belgium

3. Paediatric Neurology Unit, Department of Paediatrics UZ Brussel Brussels Belgium

4. Centre de dépistage néonatal de l’ULB Brussels Belgium

5. Department of Pediatrics Ghent University and Ghent University Hospital Ghent Belgium

6. Department of Pediatric Neurology University Hospital Antwerp (UZA) Antwerp Belgium

7. Department of Medical Genetics University Hospital Antwerp (UZA) Antwerp Belgium

8. Clinic of Pediatric Neurology "Prof. Dr. Alexandru Obregia" Clinical Psychiatric Hospital Bucharest Romania

9. "Carol Davila" University of Medicine and Pharmacy Bucharest Romania

10. VUB Metabolomics Platform, Vrije Universiteit Brussel and Laboratory for Molecular Diagnostics AZ Delta Roeselare Roeselare Belgium

Funder

Shire

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.527

Reference31 articles.

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2. Identification and Detection of the Common 65-kb Deletion Breakpoint in the Nephropathic Cystinosis Gene (CTNS)

3. Correction of Mucopolysaccharidosis Type I Fibroblasts by Retroviral-Mediated Transfer of the Human α-l-Iduronidase Gene

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5. DETECTION OF THE DEFECT OF GAUCHER'S DISEASE AND ITS CARRIER STATE IN PERIPHERAL-BLOOD LEUCOCYTES

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