Results 71 to 80 of about 11,815 (173)

Phenotypic and Genotypic Analysis of RETT Syndrome [PDF]

, 2006
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Kárteszi Judit
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Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan.

Journal of the Formosan Medical Association = Taiwan yi zhi, 1998
The mucopolysaccharidoses are a group of inherited disorders of lysosomal storage of glycosaminoglycans. Among them, mucopolysaccharidosis (MPS) type II (Hunter's syndrome), caused by a deficiency in iduronate sulfatase, is the only one inherited in an X-linked recessive manner. We describe 12 Hunter's syndrome patients and seven carriers, with precise
P H, Su, W L, Hwu, S C, Chiang, P C, Chiu, S J, Lin, S G, Shu, T R, Wang   +6 more
openaire   +1 more source

Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland. [PDF]

Biomedicines, 2023
Żuber Z, Kieć-Wilk B, Kałużny Ł, Wierzba J, Tylki-Szymańska A.   +4 more
europepmc   +1 more source

Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II. [PDF]

Mol Genet Metab Rep, 2023
Yamazaki N, Ohira M, Takada S, Ohtake A, Onodera M, Nakanishi M, Okuyama T, Mashima R.   +7 more
europepmc   +1 more source

Virchow-Robin spaces : an anatomic variant or a pathologic sign? [PDF]

, 2009
Virchow-Robin spaces surround blood vessels. Their walls are formed by prolongations of the pia mater and they have no communication with the subarachnoid space. VRS are often seen as well-delineated foci of cerebrospinal fluid signal on MR images.

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Generation and characterization of an immunodeficient mouse model of mucopolysaccharidosis type II. [PDF]

Mol Genet Metab, 2023
Smith MC, Belur LR, Karlen AD, Podetz-Pedersen K, Erlanson O, Laoharawee K, Furcich J, Lund TC, You Y, Seelig D, Webber BR, McIvor RS.   +11 more
europepmc   +1 more source

A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation. [PDF]

Sci Rep, 2023
Mashima R, Ohira M, Okuyama T, Onodera M, Takada S.   +4 more
europepmc   +1 more source

Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan. [PDF]

Mol Genet Metab Rep, 2023
Hattori Y, Sawada T, Kido J, Sugawara K, Yoshida S, Matsumoto S, Inoue T, Hirose S, Nakamura K.   +8 more
europepmc   +1 more source

Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States. [PDF]

Genet Med, 2023
Ream MA, Lam WKK, Grosse SD, Ojodu J, Jones E, Prosser LA, Rosé AM, Comeau AM, Tanksley S, Powell CM, Kemper AR.   +10 more
europepmc   +1 more source

Genet Med [PDF]

The US Secretary of Health and Human Services recommended in February 2016 that mucopolysaccharidosis type 1 (MPS I) be added to the recommended uniform screening panel for state newborn screening programs. One of the key factors in this decision was the

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