Results 101 to 110 of about 12,452,915 (192)

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

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

α-L-iduronidase therapy for mucopolysaccharidosis type I

, 2008
Jakub Tolar, Paul J OrchardDivision of Hematology, Oncology, Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USAAbstract: More than 500 patients with mucopolysaccharidosis type IH (MPS IH; Hurler ...
Jakub Tolar, Paul J Orchard
core  

Early Recognition of Patients with Neuronopathic Forms of Mucopolysaccharidosis Type II in Clinical Practice. [PDF]

Med Sci (Basel)
Buchinskaia NV, Zakharova EY, Vechkasova AO, Chikova IA, Vashakmadze ND, Namazova-Baranova LS, Ivanov DO, Kutsev SI, Kostik MM.   +8 more
europepmc   +1 more source

Impact of Mucopolysaccharidosis Type II in Young Children from the Caregiver's Perspective: A Qualitative Study. [PDF]

Adv Ther
Baldwin J, Engmann N, Stanczyk S, McKay K, Pokrzywinski R.   +4 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

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

Combined Intracerebroventricular Enzyme Replacement and Cord Blood Transplantation in Patients with Mucopolysaccharidosis Type II Diagnosed Through Newborn Screening. [PDF]

Int J Neonatal Screen
Ueda Y, Hirabayashi S, Miura M, Yamada S, Nakakubo S, Nakajima M, Goto T, Abe J, Terashita Y, Manabe A, Okuyama T, Egawa K.   +11 more
europepmc   +1 more source

Mucopolysaccharidosis Type II Screening, Diagnosis, and Management: A Literature Review and Practical Recommendations for Newborn Screening Programs and Health Care Providers to Support Families and Improve Outcomes. [PDF]

Int J Neonatal Screen
Gaviglio A, Bonhomme N, Burton B, Ellinwood NM, Muenzer J, Stephens K, Pathak R, Schaeffer-Koziol C.   +7 more
europepmc   +1 more source

In Vivo Imaging of Cone Photoreceptors in Mucopolysaccharidosis Type II and Retinal Degeneration: A Case Report. [PDF]

Case Rep Ophthalmol
Matlach J, Wipprecht L, Schmelmer AJ, Stingl JV, Hopf S, Pitz S, Maiurano LM, Hennermann JB.   +7 more
europepmc   +1 more source