Most families have private mutations which may explain the variations in clinical presentation of Fabry's disease
Neurologic symptoms of Fabry's disease
often are confused with psychiatric disorders or vague neurologic or pain syndromes
And at the Royal Free Hospital, we are looking at younger stroke patients to see if we can establish what the prevalence of Fabry's disease
is in that group," Dr.
is an X-linked disorder of glycosphingolipid catabolism that results from the defective activity of glycosphingolipid, mainly ceramide trihexoside, in the vascular smooth muscle, myocardium, cells of sympathetic central nervous system, and epithelial cells of renal glomeruli.
Sinai Medical Center in New York City infused the missing enzyme into 29 adults with Fabry's disease
Most importantly, the report provides valuable insights on the pipeline products within the global Fabry's Disease
1991) An atypical variant of Fabry's disease
with manifestations confined to the myocardium.
Vasospastic angina in a patient with Fabry's disease
who showed normal coronary angiographic findings.
Examples include albinism, congenital adrenal hyperplasia, erythropoietic protoporphyria, Fabry's disease
, familial basal ganglia calcification, G6PD deficiency, Gaucher's disease, hemochromatosis, Huntington's chorea, hyperasparaginism, ichthyosis vulgaris, Kartagener's syndrome, Klinefelter's syndrome (karyotype 47,XXY), metachromatic leukodystrophy, Niemann-Pick disease, phenylketonuria, acute intermittent porphyria, Turner's syndrome, and Wilson's disease.
Safety and efficacy of recombinant human a-galactosidase A-replacement therapy in Fabry's disease
Safety and efficacy of recombinant human [alpha]-galactosidase A: replacement therapy in Fabry's disease
Another patient was successfully treated for cardiac sequelae of Fabry's Disease
, and is also no longer considered for heart transplant.