Results 101 to 110 of about 11,933,855 (190)

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

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

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

Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China. [PDF]

Front Genet, 2023
Zhang Z, Ma M, Zhang W, Zhou Y, Yao F, Zhu L, Wei M, Qiu Z.   +7 more
europepmc   +1 more source

Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya. [PDF]

Orphanet J Rare Dis
Mungai LNW, Njeru C, Njoroge A, Maina M, Ilovi S, Nduati RW, Wamalwa D, Odongkara B, Miller DE.   +8 more
europepmc   +1 more source

Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II. [PDF]

Mol Ther Methods Clin Dev, 2023
Catalano F, Vlaar EC, Katsavelis D, Dammou Z, Huizer TF, van den Bosch JC, Hoogeveen-Westerveld M, van den Hout HJMP, Oussoren E, Ruijter GJG, Schaaf G, Pike-Overzet K, Staal FJT, van der Ploeg AT, Pijnappel WWMP.   +14 more
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

Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study. [PDF]

Diagnostics (Basel)
Yazıcı H, Kara E, Bulut FD, Çelik MY, Köşeci B, Erdem F, Burgaç E, Yanbolu AY, Kaplan İ, Durmaz A, Aykut A, Canda E, Kor D, Uçar SK, Sözmen E, Çoker M, Mungan HNÖ.   +16 more
europepmc   +1 more source