Associated Papers
X-chromosomal inactivation patterns in women with Fabry disease.
Wagenhäuser L et al.
Molecular Genetics & Genomic Medicine, 2022
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.
Vieira SRL et al.
Frontiers in Neurology, 2021
Endothelial Dysfunction in Fabry Disease Is Related to Glycocalyx Degradation.
Pollmann S et al.
Frontiers in Immunology, 2021
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Sawada T et al.
Molecular Genetics & Genomic Medicine, 2020
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
Neutralising anti-drug antibodies in Fabry disease can inhibit endothelial enzyme uptake and activity.
Stappers F et al.
Journal of Inherited Metabolic Disease, 2020
Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy.
Lenders M et al.
Journal of Medical Genetics, 2019
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 2019
Urine-derived cells: a promising diagnostic tool in Fabry disease patients.
Slaats GG et al.
Scientific Reports, 2018
Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification.
Hogan GJ et al.
Clinical Chemistry, 2018
Pharmacoperone drugs: targeting misfolded proteins causing lysosomal storage-, ion channels-, and G protein-coupled receptors-associated conformational disorders.
Hou ZS et al.
Expert Review of Clinical Pharmacology, 2018
Lysosomal storage diseases.
Ferreira CR et al.
Translational Science of Rare Diseases, 2017
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
Lenders M et al.
Orphanet Journal of Rare Diseases, 2016
Eight-Year Follow-Up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease.
Lelieveld IM et al.
Plos One, 2015
Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.
Altarescu G et al.
Molecular Biology International, 2012
A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease.
Whybra C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005