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Fabry disease (FD) is a rare X‐linked lysosomal storage disorder due to the absent or deficient activity of lysosomal hydrolase a‐galactosidase A (α‐Gal A), which leads to the accumulation of… Click to show full abstract
Fabry disease (FD) is a rare X‐linked lysosomal storage disorder due to the absent or deficient activity of lysosomal hydrolase a‐galactosidase A (α‐Gal A), which leads to the accumulation of its substrates in various organs and tissues. Classic clinical manifestations include angiokeratomas, proteinuria, renal failure, neuropathic pain, and left ventricular hypertrophy. Fever is one of the rare symptoms that may occur during FD.
Keywords:
unknown origin;
fabry disease;
disease;
recurrent fever;
fever unknown;
origin overlooked
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020
Link to full text (if available)
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recommendations!