Friedreich Ataxia in Classical Galactosaemia

Movement disorders such as ataxia are a recognized complication of classical galactosaemia, even in diet-compliant patients. Here, we report the coexistence of classical galactosaemia and Friedreich ataxia (FRDA) in nine children from seven Irish Traveller families. These two autosomal recessive dis...

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Detaylı Bibliyografya
Yayımlandı:JIMD Rep
Asıl Yazarlar: Neville, Siobhán, O’Sullivan, Siobhan, Sweeney, Bronagh, Lynch, Bryan, Hanrahan, Donncha, Knerr, Ina, Lynch, Sally Ann, Crushell, Ellen
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Berlin Heidelberg 2015
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4864715/
https://ncbi.nlm.nih.gov/pubmed/26219880
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_477
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