Associated Papers
Cognitive dysfunction and white matter hyperintensities in Fabry disease.
Murphy P et al.
Journal of Inherited Metabolic Disease, 2022
MiRNA Let-7a and Let-7d Are Induced by Globotriaosylceramide via NF-kB Activation in Fabry Disease.
Maier N et al.
Genes, 2021
Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature.
Lee TH et al.
European Journal of Neurology, 2019
Cardiac Phenotype of Prehypertrophic Fabry Disease.
Nordin S et al.
Circulation. Cardiovascular Imaging, 2018
Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.
Lu YH et al.
Journal of Human Genetics, 2018
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.
Lavalle L et al.
Plos One, 2018
Fabry disease in infancy and early childhood: a systematic literature review.
Laney DA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.
Auray-Blais C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry.
Lee SH et al.
Molecular Genetics and Metabolism, 2014
Fabry disease in children: correlation between ocular manifestations, genotype and systemic clinical severity.
Allen LE et al.
The British Journal of Ophthalmology, 2010
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005
High prevalence of subclinical hypothyroidism in patients with Anderson-Fabry disease.
Hauser AC et al.
Journal of Inherited Metabolic Disease, 2005
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.
Davies JP et al.
European Journal of Human Genetics : Ejhg, 1996