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54 relations: Alpha-galactosidase, American Journal of Human Genetics, Analgesic, Angiokeratoma, Anticonvulsant, BioDrugs, Biopharmaceutical, Blood vessel, Cornea verticillata, Crossing Jordan, Dermatology Online Journal, DNA, Enzyme, Enzyme replacement therapy, Epic Fail (House), Fatigue, Genetics in Medicine, Genzyme, Globotriaosylceramide, Glycolipid, Heart, House (TV series), Hyperhidrosis, Hypertension, Hypohidrosis, JAMA (journal), Johannes Fabry, Kidney failure, Life expectancy, Lysosomal storage disease, Migalastat, National Institute of Neurological Disorders and Stroke, Nonsteroidal anti-inflammatory drug, Oligosaccharide, Papule, Peripheral neuropathy, Proteinuria, Raynaud syndrome, Restrictive cardiomyopathy, Scrubs (TV series), Sex linkage, Shire (pharmaceutical company), Sphingolipid, Sphingolipidoses, The Clinical Journal of Pain, The International League of Dermatological Societies, The Journal of Pediatrics, The New York Times, Tinnitus, United States National Library of Medicine, ..., Vertigo, White blood cell, X-inactivation, Zygosity. Expand index (4 more) »
Alpha-galactosidase
Alpha-galactosidase is a glycoside hydrolase enzyme that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins.
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American Journal of Human Genetics
The American Journal of Human Genetics is a monthly peer-reviewed scientific journal in the field of human genetics.
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Analgesic
An analgesic or painkiller is any member of the group of drugs used to achieve analgesia, relief from pain.
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Angiokeratoma
Angiokeratoma is a benign cutaneous lesion of capillaries, resulting in small marks of red to blue color and characterized by hyperkeratosis.
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Anticonvulsant
Anticonvulsants (also commonly known as antiepileptic drugs or as antiseizure drugs) are a diverse group of pharmacological agents used in the treatment of epileptic seizures.
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BioDrugs
BioDrugs is a peer-reviewed pharmacology journal.
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Biopharmaceutical
A biopharmaceutical, also known as a biologic(al) medical product, biological, or biologic, is any pharmaceutical drug product manufactured in, extracted from, or semisynthesized from biological sources.
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Blood vessel
The blood vessels are the part of the circulatory system, and microcirculation, that transports blood throughout the human body.
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Cornea verticillata
Cornea verticillata, also called Fleischer vortex, vortex keratopathy or whorl keratopathy, is a condition characterised by corneal deposits at the level of the basal epithelium forming a faint golden-brown whorl pattern.
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Crossing Jordan
Crossing Jordan is an American television crime/drama series that aired on NBC from September 24, 2001, to May 16, 2007.
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Dermatology Online Journal
The Dermatology Online Journal is a monthly open-access peer-reviewed medical journal that was established in 1995 by Arthur Huntley (Department of Dermatology, University of California, Davis).
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DNA
Deoxyribonucleic acid (DNA) is a thread-like chain of nucleotides carrying the genetic instructions used in the growth, development, functioning and reproduction of all known living organisms and many viruses.
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Enzyme
Enzymes are macromolecular biological catalysts.
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Enzyme replacement therapy
Enzyme replacement therapy (ERT) is a medical treatment which replaces an enzyme that is deficient or absent in the body.
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Epic Fail (House)
"Epic Fail" is the second episode of the sixth season of House.
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Fatigue
Fatigue is a subjective feeling of tiredness that has a gradual onset.
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Genetics in Medicine
Genetics in Medicine is a monthly peer-reviewed medical journal covering medical genetics.
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Genzyme
Sanofi Genzyme is an American biotechnology company based in Cambridge, Massachusetts.
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Globotriaosylceramide
Globotriaosylceramide is a globoside.
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Glycolipid
Glycolipids are lipids with a carbohydrate attached by a glycosidic bond or covalently bonded.
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Heart
The heart is a muscular organ in most animals, which pumps blood through the blood vessels of the circulatory system.
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House (TV series)
House (also called House, M.D.) is an American television medical drama that originally ran on the Fox network for eight seasons, from November 16, 2004 to May 21, 2012.
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Hyperhidrosis
Hyperhidrosis is a condition characterized by abnormally increased sweating, in excess of that required for regulation of body temperature.
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Hypertension
Hypertension (HTN or HT), also known as high blood pressure (HBP), is a long-term medical condition in which the blood pressure in the arteries is persistently elevated.
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Hypohidrosis
Hypohidrosis is diminished sweating in response to appropriate stimuli.
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JAMA (journal)
JAMA: The Journal of the American Medical Association is a peer-reviewed medical journal published 48 times a year by the American Medical Association.
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Johannes Fabry
Johannes Fabry (1 June 1860, Jülich – 29 June 1930, Dortmund) was a German dermatologist.
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Kidney failure
Kidney failure, also known as end-stage kidney disease, is a medical condition in which the kidneys no longer work.
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Life expectancy
Life expectancy is a statistical measure of the average time an organism is expected to live, based on the year of its birth, its current age and other demographic factors including gender.
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Lysosomal storage disease
Lysosomal storage diseases (LSDs) are a group of about 50 rare inherited metabolic disorders that result from defects in lysosomal function.
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Migalastat
Migalastat (or 1-deoxygalactonojirimycin; trade names Galafold and formerly Amigal) is a drug for the treatment of Fabry disease, a rare genetic disorder. It was developed by Amicus Therapeutics. The US Food and Drug Administration (FDA) assigned it orphan drug status in 2004, and the European Committee for Medicinal Products for Human Use (CHMP) followed in 2006. The European Commission approved the drug in May 2016.
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National Institute of Neurological Disorders and Stroke
The National Institute of Neurological Disorders and Stroke (NINDS) is a part of the U.S. National Institutes of Health (NIH).
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Nonsteroidal anti-inflammatory drug
Nonsteroidal anti-inflammatory drugs (NSAIDs) are a drug class that reduce pain, decrease fever, prevent blood clots and, in higher doses, decrease inflammation.
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Oligosaccharide
An oligosaccharide (from the Greek ὀλίγος olígos, "a few", and σάκχαρ sácchar, "sugar") is a saccharide polymer containing a small number (typically three to ten) of monosaccharides (simple sugars).
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Papule
A papule is a circumscribed, solid elevation of skin with no visible fluid, varying in area from a pinhead to 1 cm.
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Peripheral neuropathy
Peripheral neuropathy (PN) is damage to or disease affecting nerves, which may impair sensation, movement, gland or organ function, or other aspects of health, depending on the type of nerve affected.
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Proteinuria
Proteinuria is the presence of excess proteins in the urine.
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Raynaud syndrome
Raynaud syndrome, also known as Raynaud's phenomenon, is a medical condition in which spasm of arteries cause episodes of reduced blood flow.
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Restrictive cardiomyopathy
Restrictive cardiomyopathy (RCM) is a form of cardiomyopathy in which the walls of the heart are rigid (but not thickened).
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Scrubs (TV series)
Scrubs (stylized as) is an American medical comedy-drama television series created by Bill Lawrence that aired from October 2, 2001, to March 17, 2010, on NBC and later ABC.
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Sex linkage
Sex linkage is the phenotypic expression of an allele related to the allosome (sex chromosome) of the individual.
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Shire (pharmaceutical company)
Shire Plc is a Jersey-registered, Irish-headquartered global specialty biopharmaceutical company.
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Sphingolipid
Sphingolipids are a class of lipids containing a backbone of sphingoid bases, a set of aliphatic amino alcohols that includes sphingosine.
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Sphingolipidoses
Sphingolipidoses (singular "sphingolipidosis") are a class of lipid storage disorders relating to sphingolipid metabolism.
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The Clinical Journal of Pain
The Clinical Journal of Pain is a monthly peer-reviewed medical journal published by Lippincott Williams & Wilkins.
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The International League of Dermatological Societies
The International League of Dermatological Societies (ILDS) is a non-governmental organization that works closely with the World Health Organization.
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The Journal of Pediatrics
The Journal of Pediatrics is a monthly peer-reviewed medical journal that covers all aspects of pediatrics.
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The New York Times
The New York Times (sometimes abbreviated as The NYT or The Times) is an American newspaper based in New York City with worldwide influence and readership.
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Tinnitus
Tinnitus is the hearing of sound when no external sound is present.
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United States National Library of Medicine
The United States National Library of Medicine (NLM), operated by the United States federal government, is the world's largest medical library.
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Vertigo
Vertigo is a symptom where a person feels as if they or the objects around them are moving when they are not.
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White blood cell
White blood cells (WBCs), also called leukocytes or leucocytes, are the cells of the immune system that are involved in protecting the body against both infectious disease and foreign invaders.
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X-inactivation
X-inactivation (also called lyonization) is a process by which one of the copies of the X chromosome present in female mammals is inactivated.
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Zygosity
Zygosity is the degree of similarity of the alleles for a trait in an organism.
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Redirects here:
Alpha-galactosidase A deficiency, Anderson-Fabry disease, Anderson–Fabry disease, Angiokeratoma Corporis Diffusum, Angiokeratoma corporis diffusum, Angiokeratoma corporis diffusum of Fabry, Angiokeratoma corporis diffusum universale, Angiokeratoma diffuse, Anglokeratoma corporis diffusum universale, Ceramide trihexosidase deficiency, Ceramide trihexosidosis, Diffuse angiokeratoma, Diffuse angiokeratosis, Diffuse anglokeratoma, Fabray's disease, Fabrey's disease, Fabry's Disease, Fabry's disease, Fabrys disease, GLA (gene).
References
[1] https://en.wikipedia.org/wiki/Fabry_disease
