Fabry disease: a review of current management strategies
A Mehta, M Beck, F Eyskens, C Feliciani… - … Journal of Medicine, 2010 - academic.oup.com
Fabry disease is an X-linked inherited condition due to the absence or reduction of α-
galactosidase activity in lysosomes, that results in accumulation of globotriaosylceramide …
galactosidase activity in lysosomes, that results in accumulation of globotriaosylceramide …
[HTML][HTML] Fabry disease: guidelines for the evaluation and management of multi-organ system involvement
CM Eng, DP Germain, M Banikazemi, DG Warnock… - Genetics in …, 2006 - Elsevier
Fabry disease is an X-linked metabolic storage disorder due to the deficiency of lysosomal α-
galactosidase A, and the subsequent accumulation of glycosphingolipids, primarily …
galactosidase A, and the subsequent accumulation of glycosphingolipids, primarily …
Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
A Mehta, R Ricci, U Widmer, F Dehout… - European journal of …, 2004 - Wiley Online Library
Background Fabry disease is a rare X‐linked disorder caused by deficient activity of the
lysosomal enzyme α‐galactosidase A. Progressive accumulation of the substrate …
lysosomal enzyme α‐galactosidase A. Progressive accumulation of the substrate …
Fabry disease: overall effects of agalsidase alfa treatment
M Beck, R Ricci, U Widmer, F Dehout… - European journal of …, 2004 - Wiley Online Library
Background Fabry disease is a rare X‐linked disorder caused by deficient activity of the
lysosomal enzyme α‐galactosidase A. Progressive accumulation of the substrate …
lysosomal enzyme α‐galactosidase A. Progressive accumulation of the substrate …
[HTML][HTML] Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring
B Hoffmann - Orphanet Journal of Rare Diseases, 2009 - Springer
Abstract Background In Fabry disease (α-galactosidase A deficiency) accumulation of
Globotriaosylceramide (Gb3) leads to progressive organ failure and premature death. The …
Globotriaosylceramide (Gb3) leads to progressive organ failure and premature death. The …
Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy
M Banikazemi, T Ullman, RJ Desnick - Molecular genetics and metabolism, 2005 - Elsevier
Gastrointestinal symptoms are often an early and prominent manifestation of Fabry disease,
an X-linked inborn error of metabolism caused by the deficient activity of the lysosomal …
an X-linked inborn error of metabolism caused by the deficient activity of the lysosomal …
[HTML][HTML] Fabry disease: diagnosis and treatment
F Breunig, F Weidemann, M Beer, A Eggert, V Krane… - Kidney International, 2003 - Elsevier
Fabry disease: Diagnosis and treatment. Fabry disease is an X-linked lysosomal storage
disorder that results from a deficiency of the enzyme α-galactosidase A (α-Gal A). The lack of …
disorder that results from a deficiency of the enzyme α-galactosidase A (α-Gal A). The lack of …
[HTML][HTML] Fabry disease in children and the effects of enzyme replacement treatment
G Pintos-Morell, M Beck - European journal of pediatrics, 2009 - Springer
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a
deficiency in the activity of the lysosomal enzyme, α-galactosidase A. In affected patients, the …
deficiency in the activity of the lysosomal enzyme, α-galactosidase A. In affected patients, the …
The kidney in Fabry's disease
A Pisani, B Visciano, M Imbriaco, A Di Nuzzi… - Clinical …, 2014 - Wiley Online Library
Fabry disease (FD) is an X‐linked disease in which mutations of the GLA gene result in a
deficiency of the enzyme α‐galactosidase A and subsequent progressive, intralysosomal …
deficiency of the enzyme α‐galactosidase A and subsequent progressive, intralysosomal …
[HTML][HTML] Fabry disease revisited: management and treatment recommendations for adult patients
A Ortiz, DP Germain, RJ Desnick, J Politei… - Molecular genetics and …, 2018 - Elsevier
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA
gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life …
gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life …
相关搜索
- fabry disease management strategies
- fabry disease gastrointestinal manifestations
- fabry disease diagnosis and treatment
- fabry disease overall effects
- fabry disease guidelines for the evaluation
- fabry disease screening of patients
- fabry disease clinical response
- fabry disease evaluation and management
- fabry disease alfa treatment
- fabry disease diagnosis and screening
- fabry disease gastrointestinal involvement