Assessment of small fiber neuropathy in patients carrying the non‐classical Fabry variant p.D313Y-Reference-Cited by-同舟云学术

Assessment of small fiber neuropathy in patients carrying the non‐classical Fabry variant p.D313Y

Published:2021-02-19 Issue:5 Volume:63 Page:745-750
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Cossel Katharina¹,Muschol Nicole¹,Friedrich Reinhard E.²,Glatzel Markus³,Ammer Luise¹,Lohmöller Benjamin¹,Bendszus Martin⁴,Mautner Victor‐Felix⁵,Godel Tim⁴

Affiliation:

1. Department of Pediatrics University Medical Center Hamburg‐Eppendorf Hamburg Germany

2. Department of Oral and Maxillofacial Surgery University Medical Center Hamburg‐Eppendorf Hamburg Germany

3. Institute of Neuropathology University Medical Center Hamburg‐Eppendorf Hamburg Germany

4. Department of Neuroradiology Neurological University Clinic, Heidelberg University Hospital Heidelberg Germany

5. Department of Neurology University Medical Center Hamburg‐Eppendorf Hamburg Germany

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.27196

Reference36 articles.

1. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

2. Fabry disease: Characterization of ?-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

3. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

4. Fabry disease revisited: Management and treatment recommendations for adult patients

5. Nature and frequency of mutations in the alpha‐galactosidase A gene that cause Fabry disease;Eng CM;Am J Hum Genet,1993

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