Results 141 to 150 of about 12,127 (209)

Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond. [PDF]

BioDrugs
Zanetti A, Tomanin R.
europepmc   +1 more source

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation [PDF]

, 2019
Ahmed, Alia, Chen, Agnes, Dickson, Patricia, Eisengart, Julie B, King, Kelly, Ou, Li, Rudser, Kyle, Shapiro, Elsa, Whitley, Chester B   +8 more
core   +1 more source

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants. [PDF]

Hum Genomics
Zanetti A, D'Avanzo F, Tomanin R.
europepmc   +1 more source

Overcoming the barriers to diagnosis of Morquio A syndrome [PDF]

, 2014
Adeline Tan, Akemi Tanaka, Albert D Yang, Anita Inwood, Antony Fu, Dong Kyu Jin, Hasri Samion, Hsiang-Yu Lin, Jim McGill, Kaustuv Bhattacharya, Michael Fietz, Motomichi Kosuga, Nancy J Mendelsohn, Ok-Hwa Kim, Shanti Balasubramaniam, Shuan-Pei Lin, Teck-Hock Toh, Torayuki Okuyama, Verasak Thamkunanon, Yew Sing Choy, Young Hee Kwun   +20 more
core   +1 more source

Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report. [PDF]

Mol Genet Metab Rep
Hattori Y, Kido J, Sugawara K, Sawada T, Matsumoto S, Nakamura K.   +5 more
europepmc   +1 more source

Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement. [PDF]

Orphanet J Rare Dis
Giugliani R, de Siqueira ACM, Santos ES, Leão EKEA, Carvalho GDS, Santos MLSF, Raskin S, Martins AM.   +7 more
europepmc   +1 more source

Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical priorities. [PDF]

Orphanet J Rare Dis
Dempsey J, Daniels J, Katiri R, Thomas S, Metryka A, de Kruijf M, Wilkinson S, Jones SA, Bruce IA.   +8 more
europepmc   +1 more source

Respiratory insufficiency after brain metastasectomy for extraskeletal Ewing sarcoma in an adult patient with mucopolysaccharidosis type II: a case report. [PDF]

Int Cancer Conf J
Hoshi M, Ban Y, Iwai T, Takada N, Oebisu N.   +4 more
europepmc   +1 more source

Corneal structure, transparency, thickness and optical density (densitometry), especially as relevant to contact lens wear – a review [PDF]

, 2019
Doughty, Michael J., Jonuscheit, Sven
core   +1 more source

Mucopolysaccharidosis type II zebrafish model exhibits early impaired proteasomal-mediated degradation of the axon guidance receptor Dcc. [PDF]

Cell Death Dis
Manzoli R, Badenetti L, Bruzzone M, Macario MC, Rubin M, Dal Maschio M, Roveri A, Moro E.   +7 more
europepmc   +1 more source