منابع مشابه
Nephropathy in Fabry disease and iatrogenic phospholipidosis mimicking Fabry disease
Fabry disease is a rare X-linked inborn error of the glycosphingolipid metabolism caused by deficient activity of lysosomal enzyme alpha-galactosidase A. It is characterized by progressive multisystemic involvement that leads to premature death due to major organ failure, particularly the kidneys and heart. It appears that the disease is underdiagnosed in patients with end-stage renal disease. ...
متن کاملFAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease
Two disease severity scoring systems, the Mainz Severity Score Index (MSSI) and Fabry Disease Severity Scoring System (DS3), have been validated for quantifying the disease burden of Fabry disease. We aimed to develop a dynamic mathematical model [the FASTEX (FAbry STabilization indEX)] to assess the clinical stability. A multidisciplinary panel of experts in Fabry disease first defined a novel...
متن کاملClinical prodromes of neurodegeneration in Anderson-Fabry disease
OBJECTIVE To estimate the prevalence of prodromal clinical features of neurodegeneration in patients with Anderson-Fabry disease (AFD) in comparison to age-matched controls. METHODS This is a single-center, prospective, cross-sectional study in 167 participants (60 heterozygous females and 50 hemizygous males with genetically confirmed AFD, 57 age-matched controls) using a clinical screening ...
متن کاملMetabolic progression to clinical phenotype in classic Fabry disease
BACKGROUND Fabry disease is an X-linked lysosomal storage disorder due to α-galactosidase A (α-Gal A) deficiency. Clinical onset of Fabry disease is preceded by significant storage of globotriaosylceramide (Gb3) and related glycosphingolipids, but the extent of the metabolic progression before symptoms is unknown. Using a newly recognized effector and marker of Fabry disease, globotriaosylsphin...
متن کاملClinical heterogeneity in familial Alzheimer’s disease
Two studies of non-amnestic manifestations of autosomal dominant familial Alzheimer's disease (ADAD) are reported in The Lancet Neurology. 1,2 In the fi rst study, Mengxuan Tang and colleagues 1 report, on behalf of the Dominantly Inherited Alzheimer Network (DIAN) consortium, a combined description of the DIAN observational study (DIAN-OBS) cohort and the scientifi c literature. 1 In the secon...
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ژورنال
عنوان ژورنال: Neuromuscular Diseases
سال: 2015
ISSN: 2413-0443,2222-8721
DOI: 10.17650/2222-8721-2015-5-4-39-45