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Fabry Disease: Symptoms & Causes - Cleveland Clinic
https://my.clevelandclinic.org/health/diseases/16235-fabry-disease
WEBFabry disease is a rare genetic lysosomal storage disorder, where you don’t have enough of a certain enzyme that breaks down fats. These fats collect in blood vessels and tissues, raising the risk of heart attack, stroke and kidney failure. Enzyme replacement and oral chaperone therapy can help prevent serious complications.
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Fabry disease - Wikipedia
https://en.wikipedia.org/wiki/Fabry_disease
WEBFabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. Fabry disease is one of a group of conditions known as lysosomal storage diseases.
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Fabry Disease - National Institute of Neurological Disorders and Stroke
https://www.ninds.nih.gov/health-information/disorders/fabry-disease
WEBNov 28, 2023 · Fabry disease (also known as alpha-galactosidase-A deficiency) is an inherited neurological disorder that occurs when the enzyme alpha-galactosidase-A cannot efficiently break down fatty materials known as lipids into smaller components that provide energy to the body. The mutated gene allows lipids to build up to harmful levels …
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Fabry disease: MedlinePlus Genetics
https://medlineplus.gov/genetics/condition/fabry-disease/
WEBFabry disease is an inherited disorder that results from the buildup of a type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet ...
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Fabry Disease - Symptoms, Causes, Treatment | NORD
https://rarediseases.org/rare-diseases/fabry-disease/
WEBJun 6, 2019 · Fabry disease is a rare inherited disorder of glycosphingolipid (fat) metabolism resulting from the absent or markedly deficient activity of the lysosomal enzyme, α-galactosidase A (α-Gal A). This disorder belongs to a group of diseases known as lysosomal storage disorders.
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Fabry Disease: Symptoms, Treatment, and Prognosis - Healthline
https://www.healthline.com/health/fabry-disease
WEBJun 6, 2017 · Fabry disease (FD) is a rare, inherited disease. It’s progressive and can be life-threatening. People with FD have a damaged gene that leads to a shortage of an essential enzyme. The shortage...
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Fabry Disease: Causes, Symptoms, and Treatment - WebMD
https://www.webmd.com/children/fabry-disease
WEBOct 6, 2022 · WebMD looks at the causes, symptoms, and treatment of Fabry disease, an inherited condition that brings on a variety of symptoms, including pain in the hands and feet.
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Fabry Disease - StatPearls - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK435996/
WEBJul 4, 2023 · Fabry disease is a multi-systemic, X-linked lysosomal storage disease caused by decreased activity of alpha-galactosidase A and results in lysosomal accumulations of neutral glycosphingolipids and globotriaosylceramide GL-3. This activity outlines the evaluation and management of Fabry disease and reviews the …
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What Is Fabry Disease? Symptoms, Causes, Diagnosis, …
https://www.everydayhealth.com/genetic-diseases/fabry-disease/guide/
WEBMay 22, 2023 · Fabry disease is one of nearly 50 inherited metabolic diseases known as lysosomal storage disorders, in which an enzyme deficiency leads to the abnormal...
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Fabry Disease: Symptoms, Causes, Diagnosis, Treatment
https://www.verywellhealth.com/fabry-disease-symptoms-causes-diagnosis-treatment-4173486
WEBMar 9, 2024 · Fabry disease is a rare genetic disorder caused by defects in an enzyme that normally digests certain fat-soluble compounds within the body’s cells. These compounds pile up in lysosomes—which are present in cells and all organs—over time and cause harm.
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