Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature.
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Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosisFabry nephropathy: a review - how can we optimize the management of Fabry nephropathy?Depletion of globosides and isoglobosides fully reverts the morphologic phenotype of Fabry diseaseLate diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease.Gastrointestinal Symptoms of Patients with Fabry Disease.Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients.Using CRISPR/Cas9-Mediated GLA Gene Knockout as an In Vitro Drug Screening Model for Fabry Disease.Role of endosomes and lysosomes in human disease.Hooked on α-d-galactosidases: from biomedicine to enzymatic synthesis.Switch to agalsidase alfa after shortage of agalsidase beta in Fabry disease: a systematic review and meta-analysis of the literature.Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers.Parapelvic cysts, a distinguishing feature of renal Fabry disease.High variability of Fabry disease manifestations in an extended Italian family.Relative distribution of Gb3 isoforms/analogs in NOD/SCID/Fabry mice tissues determined by tandem mass spectrometry.Genetic variants associated with gastrointestinal symptoms in Fabry disease.Agalsidase alfa and agalsidase beta in the treatment of Fabry disease: does the dose really matter?High yield process for the production of active human α-galactosidase a in CHO-K1 cells through lentivirus transgenesis.α-Galactosidase-A Loaded-Nanoliposomes with Enhanced Enzymatic Activity and Intracellular Penetration.Lucerastat, an Iminosugar for Substrate Reduction Therapy: Tolerability, Pharmacodynamics, and Pharmacokinetics in Patients With Fabry Disease on Enzyme Replacement.High-Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb3 ) in Urine Collected on Filter Paper.Characterization of Human Dermal Fibroblasts in Fabry Disease.Diagnosing lysosomal storage disorders: Fabry disease.Globotriaosylceramide inhibits iNKT-cell activation in a CD1d-dependent manner.Pituitary function and morphology in Fabry disease.Fabry Disease Biomarkers: Analysis of Urinary Lyso-Gb3 and Seven Related Analogs Using Tandem Mass Spectrometry.Reduced Intracranial Volume in Fabry Disease: Evidence of Abnormal Neurodevelopment?Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types
P2860
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P2860
Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Enzyme replacement therapy in ...... and review of the literature.
@en
type
label
Enzyme replacement therapy in ...... and review of the literature.
@en
prefLabel
Enzyme replacement therapy in ...... and review of the literature.
@en
P2093
P1476
Enzyme replacement therapy in ...... and review of the literature.
@en
P2093
Antonio Pisani
Bianca Visciano
Caterina Porto
Giancarlo Parenti
Graciana Diez Roux
Massimo Imbriaco
Massimo Sabbatini
P304
P356
10.1016/J.YMGME.2012.08.003
P577
2012-08-11T00:00:00Z