Results 111 to 120 of about 5,730 (195)

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

Sustained clinical benefit of idursulfase beta in mucopolysaccharidosis II: two-year experience from a phase 3 extension study including patients switched from idursulfase. [PDF]

Orphanet J Rare Dis
Im M, Song A, Park H, Kim J, Kim C, Noh ES, Bae GY, Sung J, Hwang J, Ahn YJ, Kim H, Oh Y, Kim B, Cho SY.   +13 more
europepmc   +1 more source

A new route for the preparation of iduronate-2-sulfate glycosides: A new substrate for iduronate-2-sulfatase for screening and diagnosis of Mucopolysaccharidosis-II. [PDF]

Carbohydr Res
Singh G, Lim S, Wakpal J, Khaledi H, Gelb MH.   +4 more
europepmc   +1 more source

Commentary: Lysosomal enzymes engineered to cross the blood-brain barrier are reshaping the therapeutic landscape of neuronopathic mucopolysaccharidoses. [PDF]

Neurotherapeutics
Sorrentino NC, Fraldi A.
europepmc   +1 more source

Role of the Gut-Liver-Kidney Axis in Disease Manifestation and Biomarker Alterations. [PDF]

Int J Mol Sci
Mashima R, Ishige N.
europepmc   +1 more source

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

Harmonizing Perspectives on MPS II Care in Türkiye: A Delphi Study Towards Treatment Management Consensus. [PDF]

Healthcare (Basel)
Mungan NO, Tumer L, Sivri S, Arslan N, Ucar SK, Seker Yilmaz B, Gokcay G.   +6 more
europepmc   +1 more source

Merging evans syndrome with mucopolysaccharidosis type II: a case report. [PDF]

Front Pediatr
Wang X, Zhang J, Tang Y, Liu C, Hu P, Yang Y, Chen H.   +6 more
europepmc   +1 more source

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

A Rare Case of Hunter Syndrome (Mucopolysaccharidosis II) With Bilateral Maculopathy Associated With Rod-Cone Dystrophy. [PDF]

Cureus
Quaicoe ASP, Cornish EE, Chong R.
europepmc   +1 more source