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Items: 17


The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.

Citro V, Cammisa M, Liguori L, Cimmaruta C, Lukas J, Cubellis MV, Andreotti G.

Int J Mol Sci. 2016 Dec 1;17(12). pii: E2010. Review.


Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.

Tsukimura T, Nakano S, Togawa T, Tanaka T, Saito S, Ohno K, Shibasaki F, Sakuraba H.

Mol Genet Metab Rep. 2014 Aug 2;1:288-298. eCollection 2014.


Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body.

Oikawa M, Sakamoto N, Kobayashi A, Suzuki S, Yoshihisa A, Yamaki T, Nakazato K, Suzuki H, Saitoh S, Kiko Y, Nakano H, Hayashi T, Kimura A, Takeishi Y.

BMC Cardiovasc Disord. 2016 May 10;16:83. doi: 10.1186/s12872-016-0262-y.


Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease.

Deva DP, Hanneman K, Li Q, Ng MY, Wasim S, Morel C, Iwanochko RM, Thavendiranathan P, Crean AM.

J Cardiovasc Magn Reson. 2016 Mar 31;18:14. doi: 10.1186/s12968-016-0233-6.


Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

Wijburg FA, Bénichou B, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini C, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymańska A, Ramaswami U.

PLoS One. 2015 May 8;10(5):e0124987. doi: 10.1371/journal.pone.0124987. eCollection 2015.


A single lung transplant in a patient with fabry disease: causality or far-fetched? A case report.

Gaggl M, Kain R, Jaksch P, Haider D, Mundigler G, Voigtländer T, Sunder-Plassmann R, Rommer P, Klepetko W, Sunder-Plassmann G.

Case Rep Transplant. 2013;2013:905743. doi: 10.1155/2013/905743. Epub 2013 Apr 7.


Pharmacological chaperone therapy for Fabry disease.

Ishii S.

Proc Jpn Acad Ser B Phys Biol Sci. 2012;88(1):18-30.


The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.

Khanna R, Soska R, Lun Y, Feng J, Frascella M, Young B, Brignol N, Pellegrino L, Sitaraman SA, Desnick RJ, Benjamin ER, Lockhart DJ, Valenzano KJ.

Mol Ther. 2010 Jan;18(1):23-33. doi: 10.1038/mt.2009.220. Epub 2009 Sep 22.


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 WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, Yeh HY, Chao MC, Lin SJ, Kitagawa T, Desnick RJ, Hsu LW.

Hum Mutat. 2009 Oct;30(10):1397-405. doi: 10.1002/humu.21074.


Structure-function relationships in alpha-galactosidase A.

Garman SC.

Acta Paediatr. 2007 Apr;96(455):6-16.


SSCP analysis of paraffin wax embedded tissues in a family with an atypical form of Fabry disease.

Madsen KM, Hasholt L, Berger J, Sørensen SA.

Clin Mol Pathol. 1996 Oct;49(5):M310-2.


Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.

Ishii S, Nakao S, Minamikawa-Tachino R, Desnick RJ, Fan JQ.

Am J Hum Genet. 2002 Apr;70(4):994-1002. Epub 2002 Feb 4.


Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

Redonnet-Vernhet I, Ploos van Amstel JK, Jansen RP, Wevers RA, Salvayre R, Levade T.

J Med Genet. 1996 Aug;33(8):682-8.


Sequence variations in the first exon of alpha-galactosidase A.

Davies JP, Winchester BG, Malcolm S.

J Med Genet. 1993 Aug;30(8):658-63.


Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ.

Am J Hum Genet. 1993 Dec;53(6):1186-97.

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