Results 81 to 90 of about 783 (129)

A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.

, 2014
Mucopolysaccharidosis II (MPS II, Hunter syndrome; OMIM 309900) is an X-linked lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS), leading to accumulation of glycosaminoglycans (GAGs).
Sohn, YB, Lee, J, Ko, AR, Sohn, JM, Jin, DK, Kwun, Y, Lee, JY, Yook, YJ, Chang, MS, Kim, CH, Chung, YK   +10 more
core   +1 more source

Ophthalmic findings in a Hunter Syndrome patient on Idursulfase enzyme replacement therapy

, 2017
Hunter Syndrome (mucopolysaccharidosis type II) is a rare x-linked recessive enzymatic deficiency characterized by deposition of glycosaminoglycans (GAGs) in a multitude of organs. In the eye, this deposition can lead to optic nerve edema, uveal effusion,
Jarstad Allison; Austin Meeker; Melissa Ko
core  

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

Russian doctors have mastered intracerebroventricular administration of idursulfase beta

Педиатрическая фармакология
.
article Editorial
doaj  

Guidelines for home-based enzyme replacement therapy in children and adolescents with mucopolysaccharidosis: a scoping review. [PDF]

Rev Esc Enferm USP
Oliveira VR, Xavier BLQ, Felipe CVS, Alencar IGM, Silva HLLD, Souza FMLC, Oliveira JSA.   +6 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

Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study. [PDF]

Orphanet J Rare Dis, 2023
Muenzer J, Burton BK, Amartino HM, Harmatz PR, Gutiérrez-Solana LG, Ruiz-Garcia M, Wu Y, Merberg D, Alexanderian D, Jones SA.   +9 more
europepmc   +1 more source

Infusion rate adjustment in enzyme replacement therapy with pabinafusp alfa for mucopolysaccharidosis II. [PDF]

Br J Clin Pharmacol
Nakamura K, Sakai N, Hirai H, Takasao N, Ibaraki R, Yamamoto T, Sato Y.   +6 more
europepmc   +1 more source

Carpal Tunnel Syndrome Attributed to Medication Use: A Pharmacovigilance Study. [PDF]

Cureus
Mihalache A, Volfson E, Huang R, Zuo K, Persitz J.   +4 more
europepmc   +1 more source

Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey. [PDF]

Orphanet J Rare Dis
Muenzer J, Amartino H, Giugliani R, Harmatz P, Lin SP, Link B, Molter D, Ramaswami U, Scarpa M, Botha J, Audi J, Burton BK.   +11 more
europepmc   +1 more source