Results 121 to 130 of about 97,768,729 (189)

Revealing the role of a novel <i>IDS</i> gene mutation in mucpolysaccharidosis type II: insights from computational analysis. [PDF]

Front Mol Biosci
Huang S, Li C, Zhi Y, Su Z, Ma F, Shi C, Li S.   +6 more
europepmc   +1 more source

Insulin receptor antibody-iduronate 2-sulfatase fusion protein: pharmacokinetics, anti-drug antibody, and safety pharmacology in Rhesus monkeys. [PDF]

Biotechnol Bioeng, 2014
Boado RJ, Ka-Wai Hui E, Zhiqiang Lu J, Pardridge WM.   +3 more
europepmc   +1 more source

Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment. [PDF]

BMC Med Genomics, 2013
Mazzoccoli G, Tomanin R, Mazza T, D'Avanzo F, Salvalaio M, Rigon L, Zanetti A, Pazienza V, Francavilla M, Giuliani F, Vinciguerra M, Scarpa M.   +11 more
europepmc   +1 more source

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders. [PDF]

J Inherit Metab Dis
McCarron EP, Blau N, Eden ER, Platt FM, Aerts JM, Jones SA, Ferreira CR, Stepien KM.   +7 more
europepmc   +1 more source

A North Carolina newborn screening pilot for mucopolysaccharidosis II: Evaluating endogenous nonreducing end glycosaminoglycan analysis and IDS sequencing as higher-tier testing options. [PDF]

Genet Med
Kucera KS, Clinard K, Blake SL, Copeland VR, Migliore B, Torrice L, Carter JK, Apoian JN, Tober KA, Thorp E, Gehtland LM, Shone SM, Jalazo ER, Bali D, Young SP, Rehder CW, Raspa M, Muenzer J.   +17 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

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

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

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