Results 131 to 140 of about 15,739 (180)

Newborn Screening and Early Cord Blood Transplant for Mucopolysaccharidosis.

JAMA Netw Open
Sakaguchi H, Kosuga M, So T, Gocho Y, Ono S, Yasue S, Mizuno S, Minato S, Higuchi T, Kim Y, Sekiguchi M, Yamada M, Deguchi T, Ogiwara H, Kurosawa K, Okuyama T, Iguchi A, Tomizawa D, Matsumoto K.   +18 more
europepmc   +1 more source

Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III. [PDF]

Mol Genet Metab Rep
Seo JH, Sou W, Chinen Y, Okuyama T.
europepmc   +1 more source

Analysis of fatal outcomes of patients with mucopolysaccharidosis type II according to the Russian mucopolysaccharidosis registry. [PDF]

World J Clin Pediatr
Buchinskaya N, Vechkasova A, Vashakmadze N, Namazova-Baranova L, Ivanov D, Zakharova E, Kutsev S, Kostik M.   +7 more
europepmc   +1 more source

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Otosclerosis and Mucopolysaccharidosis

Acta Oto-Laryngologica, 1987
By means of a literature review, clinical observations and temporal bone histopathology in the Hunter syndrome, we could show a reason for otosclerosis in childhood, a very rare observation. Therefore we do not believe that the presence of otosclerotic foci in temporal bones is mere coincidence in MPS II.
G, Zechner, M, Moser
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A new mucopolysaccharidosis

The Journal of Pediatrics, 1970
Two sibs, the children of healthy unrelated parents, have been evaluated because of multiple soft tissue contractures. Both were found to excrete excessive amounts of mucopolysaccharides, primarily heparitin sulfate, and chondroitin sulfate B. Neither had the bony abnormalities characteristic of the other disorders of mucopolysaccharide metabolism, but
W A, Horton, R N, Schimke
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Mucopolysaccharidosis in a Cat

Journal of the American Veterinary Medical Association, 1976
SUMMARY A young adult female Siamese cat born of a mother-son mating was referred because of dwarfism, facial abnormalities, severe skeletal deformities, multifocal neurologic deficits, and retinal atrophy. Cats of similar appearance had been observed in a previous litter of the same parents.
K R, Cowell, P F, Jezyk, M E, Haskins, D F, Patterson   +3 more
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Gargoylism – A mucopolysaccharidosis

Scandinavian Journal of Clinical and Laboratory Investigation, 1952
(1952). Gargoylism – A mucopolysaccharidosis. Scandinavian Journal of Clinical and Laboratory Investigation: Vol. 4, No. 1, pp. 43-46.
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[Mucopolysaccharidosis].

Rivista europea per le scienze mediche e farmacologiche = European review for medical and pharmacological sciences = Revue europeenne pour les sciences medicales et pharmacologiques, 1990
The mucopolysaccharidoses comprise a heterogeneous group of inborn errors of metabolism. Usually these disorders culminate in severe disability over many years, and only seldom result in death in infancy. The prospect of gaining a certain amount of control over the incidence and progression of these rare but costly diseases amply justifies the large ...
A, Cantani, F, Mastrantoni
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Transnasal adenoidectomy in mucopolysaccharidosis

International Journal of Pediatric Otorhinolaryngology, 2018
Mucopolysaccharide (MPS) diseases are a heterogeneous group of inherited, metabolic disorders characterized by accumulation of partially degraded glycosaminoglycans (GAG) in multiple organ systems. Due to accumulation in the airway, patients often present with multilevel airway obstruction and obstructive sleep apnoea (OSA).
Harrison, Rebecca, Schaefer, Simone, Warner, Laura, Mercer, Jean, Jones, Simon, Bruce, Iain; id_orcid 0000-0003-0831-4760   +5 more
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