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Aspartylglucosaminuria: unusual neonatal presentation in qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family

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Other Authors: Opladen, Thomas (Other) , Sengupta, Devjani (Other) , Moog, Ute (Other) , Fischer, Christine (Other) , Bürger, Friederike (Other) , Haas, Dorothea (Other) , Harting, Inga (Other) , Hoffmann, Georg F. (Other)
Format: Article (Journal)
Language:English
Published: 2014
In: Journal of child neurology
Year: 2014, Volume: 29, Issue: 1, Pages: 36-42
ISSN:1708-8283
DOI:10.1177/0883073812469049
Online Access:Verlag, kostenfrei, Volltext: http://dx.doi.org/10.1177/0883073812469049
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Author Notes:Opladen, Thomas; Ebinger, Friedrich; Zschocke, Johannes; Sengupta, Devjani; Ben-Omran, Tawfeg; Shahbeck, Noora; Moog, Ute; Fischer, Christine; Buerger, Friederike; Haas, Dorothea; Ruef, Peter; Harting, Inga; Al-Rifai, Hilal; Hoffmann, Georg F.
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Item Description:Gesehen am 10.09.2014
Physical Description:Online Resource
ISSN:1708-8283
DOI:10.1177/0883073812469049

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