Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene

A family with pseudodeficiency of acid α-glucosidase

(2010) Junji Nishimoto et al.   CLINICAL GENETICS

Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study

(2010) C. Tanislav et al.   EUROPEAN JOURNAL OF NEUROLOGY

New Strategy for the Screening of Lysosomal Storage Disorders: The Use of the Online Trapping-and-Cleanup Liquid Chromatography/Mass Spectrometry

(2009) Giancarlo la Marca et al.   ANALYTICAL CHEMISTRY

Functional studies of new GLA gene mutations leading to conformational fabry disease

(2009) C. Filoni et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Segregation analysis in a family at risk for the Maroteaux–Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism

(2009) Alessandra Zanetti et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The pharmacological chaperone 1-deoxygalactonojirimycin increases α-galactosidase A levels in Fabry patient cell lines

(2009) E. R. Benjamin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease

(2008) Camilla Filoni et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The g.1170C>T polymorphism of the 5′ untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression—Evidence from a family study

(2008) J. P. Oliveira et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Effect of single-nucleotide polymorphisms of the 5′ untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians

(2008) J. P. Oliveira et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone

(2008) Sang H. Shin et al.   Pharmacogenetics and Genomics