Results 121 to 130 of about 9,431 (199)

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

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

Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase. [PDF]

Mol Genet Metab Rep, 2020
Hogan MJ, Stephens K, Smith E, Jalazo ER, Hendriksz CJ, Edwards LJ, Bjoraker KJ.   +6 more
europepmc   +1 more source

A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II. [PDF]

Int J Neonatal Screen
Ayodele O, Fertek D, Evuarherhe O, Siffel C, Audi J, Yee KS, Burton BK.   +6 more
europepmc   +1 more source

Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy. [PDF]

J Inherit Metab Dis
Kampmann C, Lampe C, Wiethoff CM, Arash-Kaps L, Mengel E, Reinke J, Beck M, Hennermann JB, Abu-Tair T.   +8 more
europepmc   +1 more source

Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II. [PDF]

J Inherit Metab Dis
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Rust S, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D.   +14 more
europepmc   +1 more source

Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment. [PDF]

Orphanet J Rare Dis
Yee KS, Alexanderian D, Martin S, Olayinka-Amao B, Whiteman DAH.   +4 more
europepmc   +1 more source

Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan. [PDF]

Orphanet J Rare Dis
Nakamura K, Sakai N, Hossain MA, Eisengart JB, Yamamoto T, Tanizawa K, So S, Schmidt M, Sato Y.   +8 more
europepmc   +1 more source

Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey. [PDF]

JIMD Rep
Link B, Botha J, Giugliani R.
europepmc   +1 more source

Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II. [PDF]

Orphanet J Rare Dis
Yee KS, Lewis S, Evans E, Romano C, Alexanderian D.   +4 more
europepmc   +1 more source