Universität zu Köln

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:	Creators Email ORCID ORCID Put Code Edem, Pinar UNSPECIFIED orcid.org/0000-0002-0395-7866 UNSPECIFIED Karakaya, Mert UNSPECIFIED UNSPECIFIED UNSPECIFIED Wirth, Brunhilde UNSPECIFIED UNSPECIFIED UNSPECIFIED Okur, Tuncay Derya UNSPECIFIED UNSPECIFIED UNSPECIFIED Yis, Uluc UNSPECIFIED UNSPECIFIED UNSPECIFIED
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:	Keywords Language INVOLVEMENT Multiple languages Pediatrics Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/15435