Edem, Pinar ORCID: 0000-0002-0395-7866, Karakaya, Mert, Wirth, Brunhilde, Okur, Tuncay Derya and Yis, Uluc (2019). Giant axonal neuropathy: A differential diagnosis of consideration. Turk. J. Pediatr., 61 (2). S. 275 - 279. ANKARA: TURKISH J PEDIATRICS. ISSN 0041-4301

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Abstract

Giant axonal neuropathy (GAN) is a rare neurodegenerative disorder affecting both the central and peripheral nervous systems progressively. The recessive mutations of the GAN gene are responsible for the disease. Although some clinical aspects, like coarse and kinky hair, are suggestive, other diseases may interfere with diagnosis. We describe a case who previously had been diagnosed with and treated for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP); after re-evaluation, genetic testing was received, and the patient was diagnosed with GAN.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Edem, PinarUNSPECIFIEDorcid.org/0000-0002-0395-7866UNSPECIFIED
Karakaya, MertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wirth, BrunhildeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Okur, Tuncay DeryaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yis, UlucUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-154354
DOI: 10.24953/turkjped.2019.02.019
Journal or Publication Title: Turk. J. Pediatr.
Volume: 61
Number: 2
Page Range: S. 275 - 279
Date: 2019
Publisher: TURKISH J PEDIATRICS
Place of Publication: ANKARA
ISSN: 0041-4301
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
INVOLVEMENTMultiple languages
PediatricsMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/15435

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