Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.ABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Raphael Schiffmann
wiley +1 more source
Late onset palmar angiokeratoma circumscriptum: An unusual presentation
Indian Dermatology Online Journal, 2014 Angiokeratomas (AK) are a group of capillary vascular malformations encompassing several unrelated conditions, predominantly seen on the lower extremities. AK can be classified into localized and diffuse forms. The diffuse forms comprise Fabry′s disease,
Saurabh R Jindal +2 more
doaj +1 more source
Age of Onset and Evolution of Fabry's Disease [PDF]
, 2017 Personal examination of 39 cases of Fabry's disease, with special respect to a chronogenetical analysis, revealed interesting temporal features both in the age of onset and the age of ...
Franceschetti, Albert Th
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Novel CTSA Variant Identified in a Thai Family With Late‐Infantile Galactosialidosis
Annals of Human Genetics, Volume 89, Issue 2-3, Page 126-131, May 2025.ABSTRACT Galactosialidosis (GS) is a rare lysosomal storage disease (LSD) with variable onset caused by a defect in protective protein/cathepsin A (PPCA) encoded by the CTSA gene. The late‐infantile onset is characterized by developmental delay, visceromegaly, coarse facies, and cherry‐red macula.
Lukana Ngiwsara +6 more
wiley +1 more source
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors [PDF]
, 2017 Despite enzyme replacement therapy, disease progression is observed in patients with Fabry disease. Identification of factors that predict disease progression is needed to refine guidelines on initiation and cessation of enzyme replacement therapy.
Arends, M +10 more
core +1 more source
Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley +1 more source
Fabry-betegség - Diagnosztikai útmutató [PDF]
, 2010 A Fabry-kór a lizoszomális tárolási betegségek csoportjába tartozó, X-kromoszómához kötötten, recesszív módon öröklődő betegség, amely a globotriaosylceramid felhalmozódásához vezet a szervezet legkülönbözőbb szöveteiben.
Ambrus, Csaba +27 more
core +2 more sources
Frequency of Fabry disease in male and female haemodialysis patients in Spain [PDF]
, 2011 Background: Fabry disease (FD), an X-linked lysosomal storage disorder, is caused by a reduced activity of the lysosomal enzyme a-galactosidase A. The disorder ultimately leads to organ damage (including renal failure) in males and females.
Alegria, P.R. (Pilar) +13 more
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Accuracy of SIAscopy for pigmented skin lesions encountered in primary care: development and validation of a new diagnostic algorithm. [PDF]
, 2010 BACKGROUND: Diagnosing pigmented skin lesions in general practice is challenging. SIAscopy has been shown to increase diagnostic accuracy for melanoma in referred populations.
Emery, Jon D +5 more
core +3 more sources
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study [PDF]
, 2018 BACKGROUND: Two recombinant enzymes (agalsidase alfa 0.2 mg/kg/every other week and agalsidase beta 1.0 mg/kg/every other week) have been registered for the treatment of Fabry disease (FD), at equal high costs.
Arends, M +15 more
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