, 2015 CD74 (invariant MHC class II) regulates protein trafficking and is a receptor for macrophage migration inhibitory factor (MIF) and d-dopachrome tautomerase (d-DT/MIF-2).
Alampour-Rajabi +85 more
core +2 more sources
Neurological complications of Anderson-Fabry disease [PDF]
, 2013 Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females ...
Arnao, Valentina +6 more
core +1 more source
Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry disease [PDF]
Journal of Nephropathology, 2015 Background: The existence of membranous cytoplasmic bodies in biopsied kidney tissues is one of the important findings when considering Fabry disease as the first choice diagnosis.
Hitoshi Sakuraba +7 more
doaj +1 more source
Assessment and impact of dose escalation on anti-drug antibodies in Fabry disease
Frontiers in Immunology, 2022 Enzyme replacement therapy (ERT) with recombinant α-galactosidase A (AGAL) can lead to the formation of neutralizing anti-drug antibodies (ADA), which significantly limit treatment efficacy in patients with Fabry disease (FD).
Malte Lenders, Eva Brand
doaj +1 more source
Female Fabry disease patients and X-chromosome inactivation [PDF]
, 2018 Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α- galactosidase A (GLA). Once it was thought to affect only hemizygous males.
Gabig-Cimińska, Magdalena +7 more
core +1 more source
Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies. [PDF]
J Inherit Metab DisABSTRACT 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 ...
Schiffmann R.
europepmc +2 more sources
The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings [PDF]
, 2015 The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Ceci, Romina +3 more
core +5 more sources
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease [PDF]
, 2015 Background Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules. They occur at a frequency of about 1 in 5,000 live births,
Cortina-Borja, Mario +11 more
core +2 more sources
Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease
Molecular Genetics and Metabolism Reports, 2014 Fabry disease is an X-linked genetic disorder characterized by deficient activity of α-galactosidase A (GLA) and accumulation of glycolipids, and various GLA gene mutations lead to a wide range of clinical phenotypes from the classic form to the later ...
Takahiro Tsukimura +7 more
doaj +1 more source
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review [PDF]
, 2010 Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II).
Ida VD Schwartz +3 more
core +2 more sources