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About 4,695 results

ALLMedicine™ Fabry Disease Center

Research & Reviews  2,283 results

Nonvascular Parkinsonism in Fabry Disease: Results From Magnetic Resonance and Dopamine...
https://doi.org/10.1093/jnen/nlab030
Journal of Neuropathology and Experimental Neurology; Russo C, Pontillo G et. al.

Apr 10th, 2021 - Nonvascular Parkinsonism in Fabry Disease: Results From Magnetic Resonance and Dopamine Transporter Imaging.|2021|Russo C,Pontillo G,Saccà F,Riccio E,Cocozza S,|

The benefits and challenges of family genetic testing in rare genetic diseases-lessons ...
https://doi.org/10.1002/mgg3.1666
Molecular Genetics & Genomic Medicine; Germain DP, Moiseev S et. al.

Apr 9th, 2021 - Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease-specific therapies when available. Fabry disease, an X-linked lysosomal storage diso...

Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8005161
International Journal of Environmental Research and Publi... Caputo F, Lungaro L et. al.

Apr 3rd, 2021 - Anderson-Fabry disease (FD) is an X-linked lysosomal storage disorder leading to a wide array of clinical manifestations. Among these, gastrointestinal (GI) symptoms such as abdominal pain, bloating, and diarrhea affect about half of the FD adults...

ZFN-mediated in vivo gene editing in hepatocytes leads to supraphysiologic α-Gal A acti...
https://doi.org/10.1016/j.ymthe.2021.03.018
Molecular Therapy : the Journal of the American Society O... Pagant S, Huston MW et. al.

Mar 29th, 2021 - Fabry disease, a lysosomal storage disorder resulting from the deficient activity of α-galactosidase A (α-Gal A), is characterized by cardiac, renal, and/or cerebrovascular disease due to progressive accumulation of the enzyme's substrates, globot...

Reflex Decay Test Can Reveal Ear Involvement in Fabry Disease.
https://doi.org/10.1097/AUD.0000000000001030
Ear and Hearing; Kiykim E, Kaya M et. al.

Mar 24th, 2021 - Fabry disease (FD) is an X-linked lysosomal storage disorder that causes multisystem involvement, including ear disease. In this study, we aimed to investigate the nature of auditory issues in FD using a wide spectrum of audiological tests. This c...

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Guidelines  1 results

Fabry disease practice guidelines: recommendations of the National Society of Genetic C...
https://doi.org/10.1007/s10897-013-9613-3
Journal of Genetic Counseling; Laney DA, Bennett RL et. al.

Jul 18th, 2013 - Identification and comprehensive care of individuals who have Fabry disease (FD) requires a multidisciplinary approach inclusive of genetic testing, test interpretation, genetic counseling, long term disease symptom monitoring, treatment recommend...

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Drugs  4 results see all →

Clinicaltrials.gov  2,351 results

Nonvascular Parkinsonism in Fabry Disease: Results From Magnetic Resonance and Dopamine...
https://doi.org/10.1093/jnen/nlab030
Journal of Neuropathology and Experimental Neurology; Russo C, Pontillo G et. al.

Apr 10th, 2021 - Nonvascular Parkinsonism in Fabry Disease: Results From Magnetic Resonance and Dopamine Transporter Imaging.|2021|Russo C,Pontillo G,Saccà F,Riccio E,Cocozza S,|

The benefits and challenges of family genetic testing in rare genetic diseases-lessons ...
https://doi.org/10.1002/mgg3.1666
Molecular Genetics & Genomic Medicine; Germain DP, Moiseev S et. al.

Apr 9th, 2021 - Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease-specific therapies when available. Fabry disease, an X-linked lysosomal storage diso...

Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8005161
International Journal of Environmental Research and Publi... Caputo F, Lungaro L et. al.

Apr 3rd, 2021 - Anderson-Fabry disease (FD) is an X-linked lysosomal storage disorder leading to a wide array of clinical manifestations. Among these, gastrointestinal (GI) symptoms such as abdominal pain, bloating, and diarrhea affect about half of the FD adults...

Fast Five Quiz: Fabry Disease
https://reference.medscape.com/viewarticle/948074

Apr 1st, 2021 - Fabry disease is an X-linked lysosomal disorder which results in excessive deposition of neutral glycosphingolipids in the vascular endothelium of multiple organs as well as in epithelial and smooth muscle cells. The progressive endothelial accumu...

ZFN-mediated in vivo gene editing in hepatocytes leads to supraphysiologic α-Gal A acti...
https://doi.org/10.1016/j.ymthe.2021.03.018
Molecular Therapy : the Journal of the American Society O... Pagant S, Huston MW et. al.

Mar 29th, 2021 - Fabry disease, a lysosomal storage disorder resulting from the deficient activity of α-galactosidase A (α-Gal A), is characterized by cardiac, renal, and/or cerebrovascular disease due to progressive accumulation of the enzyme's substrates, globot...

see more →

News  55 results

Fast Five Quiz: Fabry Disease
https://reference.medscape.com/viewarticle/948074

Apr 1st, 2021 - Fabry disease is an X-linked lysosomal disorder which results in excessive deposition of neutral glycosphingolipids in the vascular endothelium of multiple organs as well as in epithelial and smooth muscle cells. The progressive endothelial accumu...

FDA Approves First Oral Drug for Fabry Disease
https://www.medscape.com/viewarticle/900598

Aug 12th, 2018 - The US Food and Drug Administration (FDA) has approved migalastat (Galafold, Amicus Therapeutics) for adults with Fabry disease and a genetic mutation determined to be amenable to treatment with the drug on the basis of in vitro assay data. Migala...

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Patient Education  1 results see all →