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List of works by Robert Dobrovolny

A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.

scientific article published on 13 October 2006

Characterization of gana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate alpha-galactosidase and alpha-N-acetylgalactosaminidase

scientific article

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.

scientific article

Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease.

scientific article published on 29 March 2011

Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion

scientific article published on 14 May 2011

Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging.

scientific article published on 27 December 2014

Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.

scientific article published on 28 December 2006

Natural history of the respiratory involvement in Anderson-Fabry disease.

scientific article published on 9 July 2007

Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.

scientific article published on 22 November 2017

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

scientific article

Recurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase a gene mutation

article

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

article

Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.

scientific article published on 20 March 2008

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