Associated Papers
Fabry disease phenotyping in women from the complete Romanian cohort - time for early diagnostic awareness.
Mursă A et al.
Romanian Journal of Internal Medicine = Revue Roumaine De Medecine Interne, 2024
Dorsal root ganglion magnetic resonance imaging biomarker correlations with pain in Fabry disease.
Schindehütte M et al.
Brain Communications, 2024
X-chromosomal inactivation patterns in women with Fabry disease.
Wagenhäuser L et al.
Molecular Genetics & Genomic Medicine, 2022
A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease.
Najafian B et al.
Kidney International, 2022
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Stratification of Fabry mutations in clinical practice: a closer look at α-galactosidase A-3D structure.
Rickert V et al.
Journal of Internal Medicine, 2020
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase.
Cimmaruta C et al.
Bmc Bioinformatics, 2018
Fabry disease in the Spanish population: observational study with detection of 77 patients.
Vieitez I et al.
Orphanet Journal of Rare Diseases, 2018
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Benjamin ER et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Impact of cysteine variants on the structure, activity, and stability of recombinant human α-galactosidase A.
Qiu H et al.
Protein Science : a Publication of the Protein Society, 2015
Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry Mice.
Xu S et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2015
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Co-administration with the pharmacological chaperone AT1001 increases recombinant human α-galactosidase A tissue uptake and improves substrate reduction in Fabry mice.
Benjamin ER et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2012
Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.
Valenzano KJ et al.
Assay and Drug Development Technologies, 2011
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
Benjamin ER et al.
Journal of Inherited Metabolic Disease, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Disease manifestations and X inactivation in heterozygous females with Fabry disease.
Maier EM et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 2006
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005
[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects].
Germain DP
Journal De La Societe De Biologie, 2002
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
Eng CM et al.
Human Molecular Genetics, 1994
New mutation in female patient with renal variant of Fabry disease and HIV.
Solis MA et al.
Journal of Nephrology, 0
Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients.
Militaru S et al.
Current Health Sciences Journal, 0