Search engine for discovering works of Art, research articles, and books related to Art and Culture
Javascript must be enabled to continue!
Fabry Disease
View through CrossRef
Fabry disease was initially believed to be a very rare disorder, but an increase in prevalence following screening studies revealed that it may be more frequent in a less severe (nonclassical) variant. The adult physician can encounter both phenotypes: classical disease arising in childhood, or after establishing the diagnosis in an adult male. The nonclassical phenotype is usually diagnosed after additional investigations in a patient with renal disease or left ventricular hypertrophy (LVH) of unknown origin. Enzyme replacement therapy (ERT) appears to have a modest effect in Fabry disease, and many challenges remain both in understanding the pathophysiology and natural history as well as in improving patient outcomes.
Title: Fabry Disease
Description:
Fabry disease was initially believed to be a very rare disorder, but an increase in prevalence following screening studies revealed that it may be more frequent in a less severe (nonclassical) variant.
The adult physician can encounter both phenotypes: classical disease arising in childhood, or after establishing the diagnosis in an adult male.
The nonclassical phenotype is usually diagnosed after additional investigations in a patient with renal disease or left ventricular hypertrophy (LVH) of unknown origin.
Enzyme replacement therapy (ERT) appears to have a modest effect in Fabry disease, and many challenges remain both in understanding the pathophysiology and natural history as well as in improving patient outcomes.
Related Results
Fabry Disease
Fabry Disease
Fabry Disease is a rare genetic disorder that affects the body’s ability to break down specific fatty substances, leading to their buildup in various organs, including the heart, k...
Fabry disease
Fabry disease
Fabry disease is a rare X-linked lysosomal storage disorder in which deficiency of alpha-galactosidase A leads to accumulation of substrate, mostly globotriaosylceramide, which cau...
Fabry disease
Fabry disease
Fabry disease is a rare X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the lysosomal acid hydrolase enzyme, alpha-galactosidase A. The resulting accumu...
Fabry disease
Fabry disease
Fabry disease is a rare X-linked lysosomal storage disorder in which deficiency of alpha-galactosidase A leads to accumulation of substrate, mostly globotriaosylceramide (Gb3), whi...
Fabry disease
Fabry disease
Fabry disease is a rare X-linked lysosomal storage disorder in which deficiency of alpha-galactosidase A leads to accumulation of substrate, mostly globotriaosylceramide, which cau...
Rheumatoid arthritis—management
Rheumatoid arthritis—management
Influential guidelines on rheumatoid arthritis (RA) management agree on most key recommendations. Early diagnosis of persistent synovitis, and identification of poor prognostic mar...
A History of Multiple Sclerosis
A History of Multiple Sclerosis
While we now recognize that MS is a common neurological disease, as late as the early twentieth century it was considered a relatively rare condition in Europe and the United State...
Alzheimer’s Disease
Alzheimer’s Disease
Advances in the current management and treatment of Alzheimer’s disease have grown directly from our increased understanding of the neurobiology underlying this disease. Currently ...