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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:JIMD Rep
Main Authors: Neville, Siobhán, O’Sullivan, Siobhan, Sweeney, Bronagh, Lynch, Bryan, Hanrahan, Donncha, Knerr, Ina, Lynch, Sally Ann, Crushell, Ellen
Formato: Artigo
Idioma:Inglês
Publicado: Springer Berlin Heidelberg 2015
Assuntos:
Article
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares