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Approximately 1 in 100,000 newborns will experience severe mucopolysaccharidosis type I, while approximately 1 in 500,000 newborns will experience attenuated mucopolysaccharidosis type I. [2] Most mucopolysaccharidoses are autosomal recessive disorders, meaning that only individuals inheriting the defective gene from both parents are affected ...
Mucopolysaccharidosis type I is a spectrum of diseases in the mucopolysaccharidosis family. It results in the buildup of glycosaminoglycans (or GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of GAGs in lysosomes.
Glycosaminoglycans vary greatly in molecular mass, disaccharide structure, and sulfation.This is because GAG synthesis is not template driven, as are proteins or nucleic acids, but constantly altered by processing enzymes.
Meaning [1] Latin (or Neo-Latin) origin [1] a.c. before meals: ante cibum a.d., ad, AD right ear auris dextra a.m., am, AM morning: ante meridiem: nocte every night Omne Nocte a.s., as, AS left ear auris sinistra a.u., au, AU both ears together or each ear aures unitas or auris uterque b.d.s, bds, BDS 2 times a day bis die sumendum b.i.d., bid, BID
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare lifelong genetic disease that mainly affects the brain and spinal cord.It is caused by a problem with how the body breaks down certain large sugar molecules called glycosaminoglycans (also known as GAGs or mucopolysaccharides).
Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes.
Pronunciation follows convention outside the medical field, in which acronyms are generally pronounced as if they were a word (JAMA, SIDS), initialisms are generally pronounced as individual letters (DNA, SSRI), and abbreviations generally use the expansion (soln. = "solution", sup. = "superior").
take (often effectively a noun meaning "prescription"—medical prescription or prescription drug) rep. repetatur: let it be repeated s. signa: write (write on the label) s.a. secundum artem: according to the art (accepted practice or best practice) SC subcutaneous "SC" can be mistaken for "SL," meaning sublingual. See also SQ: sem. semen seed ...