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Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", [2] and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme.
Although it has been defined as an extension of pneumoconiosis, there is no scientific evidence for a similar disease related to volcanic silica particle exposures. [ 8 ] Subsequently, the word was used in Frank Scully 's puzzle book Bedside Manna , after which time, members of the N.P.L. campaigned to include the word in major dictionaries.
Mosby's Dictionary of Medicine, Nursing & Health Professions is a dictionary of health-related topics. The 8th edition, published in 2009, contains 2,240 pages and 2,400 colour illustrations. The 8th edition, published in 2009, contains 2,240 pages and 2,400 colour illustrations.
It is a sister site to The Free Dictionary and usage examples in the form of "references in classic literature" taken from the site's collection are used on The Free Dictionary 's definition pages. In addition, double-clicking on a word in the site's collection of reference materials brings up the word's definition on The Free Dictionary.
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
Black's Medical Dictionary (42nd ed, 2010, ISBN 978-1-4081-0419-4) is a comprehensive medical dictionary featuring definitions of medical terms, concepts and conditions, published by A & C Black Publishers. It was first published in 1906, and is now in its forty-second edition. It is considered a simplified home reference for medical terms. [1]
Download QR code; Print/export Download as PDF; Printable version; In other projects ... Sulfatidosis is a form of lysosomal storage disease resulting in a ...
Cherry-red spot as seen here in Tay–Sachs disease, caused by the fovea's center appearing bright red because it is surrounded by a whiter than usual area. Metabolic Storage Diseases:, [6] [7] Tay–Sachs disease; Farber disease; GM1 and GM2 gangliosidoses; Metachromatic leukodystrophy; Niemann–Pick disease; Sandhoff disease; Sialidosis