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Hunter Syndrome and Bullʼs Eye Maculopathy
Klinische Monatsblätter für AugenheilkundeMucopolysaccharidoses (MPSs) refer to a heterogeneous group of lysosomal storage disorders affecting the breakdown of glycosaminoglycans (GAGs), polysaccharide compounds involved in cell signaling and other biochemical processes [1]. The diseases, caused by genetic defects, result in multiorgan intra- and extracellular accumulation of the mentioned ...
Said, Sadiq +8 more
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Hunters syndrom og hørenedsættelse
Ugeskrift for Læger, 2010A 30 month-old boy with delayed language development was referred to the Department of Audiology in Aarhus. At the time of referral he had had 19 cases of acute otitis media and had been tubulated four times. Furthermore, the boy had not developed according to age in several respects: his motor functions and language were delayed, and he made audible ...
Kiaer, Eva Kirkegaard +2 more
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Recent Progress in Lynch Syndrome and Other Familial Colorectal Cancer Syndromes
Ca-A Cancer Journal for Clinicians, 2018Patrick Boland +2 more
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Long-Term, Open-Labeled Extension Study of Idursulfase in the Treatment of Hunter Syndrome
Genetics in Medicine, 2011David A H Whiteman +2 more
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The Pmpo Syndrome (Postmenopausal Palpable Ovary Syndrome)
Ca-A Cancer Journal for Clinicians, 1972Edward A Graber +2 more
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Carcinoma of the Male Breast and Klinefelter's Syndrome: Is There an Association?
Ca-A Cancer Journal for Clinicians, 1987Douglas B Evans
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