- ... J Pediatr. 2015;41:A17. Clarke LA. The mucopolysaccharidoses: prenatal diagnosis, neonatal screening and emerging therapies. In: A Milunsky and J Milunsky, eds. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. 8 ed. Hoboken, NJ: Wiley-Blackwell; ...
- NLM Digital Collections - MEDLARS indexing : integrated authority filePublication: [Bethesda, Md.] : National Library of Medicine, Bibliographic Services Division, 1968... sand-puppy Index RODENTS (68) Sanfilippo's syndrome see mucopolysaccharidosis III Sango fever see EPIDEMIC HEMORRHAGIC FEVER sanitaire (Fre) tmedical, public healths SANITARY ENGINEERING ★analysis - invalid ★prevention 6c control - invalid SANITATION ★analysis -invalid ★prevention 6c ...
- ... Search term GeneReviews Advanced Search Help < Prev Next > Mucopolysaccharidosis Type IVA Synonyms: Morquio A Disease, Morquio Syndrome ... with germline pathogenic variants in GALNS. Differential Diagnosis Mucopolysaccharidosis type IVB (MPS IVB; see GLB1 -Related Disorders ) ...
- ... Search term GeneReviews Advanced Search Help < Prev Next > Mucopolysaccharidosis Type II Synonyms: Hunter Syndrome, Iduronate-2-Sulfatase ... Estimated reading time: 32 minutes Summary Clinical characteristics. Mucopolysaccharidosis type II (MPS II; also known as Hunter ...
- NLM Digital Collections - National Library of Medicine classification : a scheme for the shelf arrangement of library ...Publication: Bethesda, Md. : U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, National Library of Medicine ; Washington, D.C. : For sale by the Supt. of Docs., U.S. G.P.O., 1994... 100 Nutrition surveys QU 146 Physiology WI 102 Prevention WA 695 Huntington Chorea see Huntington's Disease Huntington's Disease WL 390 Hurler-Scheie Syndrome see Mucopolysaccharidosis I Hurler's Syndrome see Mucopolysaccharidosis I Hurricanes see ...
- NLM Digital Collections - Beikoku Kokuritsu Igaku Toshokan bunruihō : igaku oyobi kanren bun'ya ni okeru tosho haikahōPublication: Tōkyō : Nihon Igaku Toshokan Kyōkai, 1996... 100 Nutrition surveys QU 146 Physiology WI 102 Prevention WA 695 Huntington Chorea see Huntington's Disease Huntington s Disease WL 390 Hurler-Scheie Syndrome see Mucopolysaccharidosis I Hurler s Syndrome see Mucopolysaccharidosis I Hurricanes see ...
- ... published></health-condition-summary><health-condition-summary ><name >Mucopolysaccharidosis type I</name><ghr-page >https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-i</ghr-page><text-list ><text ><text- ...
- ... al. Biochemical and histopathological studies on patients with mucopolysaccharidoses, two of whom had been treated by fibroblast ... trial of fibroblast transplantation for the treatment of mucopolysaccharidoses. J Inherit Metab Dis. 1983; 6 (2):62– ...
- ... untreated individuals have typical Hurler-like facies (see Mucopolysaccharidosis Type 1 ) or coarse facial features, macrocephaly with ... overlap with other lysosomal storage disorders (e.g., mucopolysaccharidosis type I and II). However, the distinctive clinical ...
- ... or cat cry syndrome/ or down syndrome/ or mucopolysaccharidosis/ or phenylketonuria/ or pyruvate dehydrogenase/ or rubinstein syndrome/ ... lesch-nyhan syndrome/ or fragile x syndrome/ or mucopolysaccharidoses/ or exp phenylketonurias/ or exp prader-willi syndrome/ ...
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