Angiokeratoma: decision-making aid for the diagnosis of Fabry disease-Reference-Cited by-同舟云学术

Angiokeratoma: decision-making aid for the diagnosis of Fabry disease

Published:2012-03-27 Issue:4 Volume:166 Page:712-720
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

Zampetti A.,Orteu C.H.,Antuzzi D.,Bongiorno M.R.,Manco S.,Gnarra M.,Morrone A.,Cardinali G.,Kovacs D.,Aspite N.,Linder D.,Parini R.,Feliciani C.,

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2012.10742.x/fullpdf

Reference71 articles.

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2. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A);Hwu;Hum Mutat,2009

3. Functional studies of new GLA gene mutations leading to conformational Fabry disease;Filoni;Biochim Biophys Acta,2010

4. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes;Ashton-Prolla;J Investig Med,2000

5. Pathophysiology and assessment of neuropathic pain in Fabry disease;Schiffmann;Acta Paediatr Suppl,2002

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