Results 121 to 130 of about 25,294 (214)

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network. [PDF]

Diseases
Montenegro YHA, Alves MFA, Santos-Lopes SSD, Souza CFM, Poswar FO, Brusius-Facchin AC, Bender-Pasetto F, Michelin-Tirelli K, Sebastião FM, Trapp FB, Ribeiro EM, Medeiros PFV, Kim CA, Embiraçu EK, Riegel-Giugliani M, Baldo G, Giugliani R.   +16 more
europepmc   +1 more source

Microwave-Assisted Synthesis and Enzyme Stabilization Study of <i>N</i>‑Alkyl Praziquantel Analogs for Arylsulfatase B: Possible Leads for Mucopolysaccharidosis VI Therapy. [PDF]

ACS Omega
Cantrell LS, DeGraaff B, Hostetler J, Koentopp R, Terpstra K, Weissinger S, Zeitler SM, Russell TA.   +7 more
europepmc   +1 more source

Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry. [PDF]

World J Clin Pediatr
Vechkasova AO, Zakharova EY, Buchinskaya NV, Vashakmadze ND, Namazova-Baranova LS, Ivanov DO, Kutsev SI, Kostik MM.   +7 more
europepmc   +1 more source

Impact of regular physiotherapy intervention on the function and quality of life of pediatric patients diagnosed with Mucopolysaccharidosis. [PDF]

Mol Genet Metab Rep
Dealy J, Inbar-Feigenberg M.
europepmc   +1 more source

Osteochondrodystrophia Deformans with Mucopolysaccharidosis [PDF]

Archives of Disease in Childhood, 1965
openaire   +2 more sources

Genomic autopsy in neonatal-onset mucopolysaccharidosis type VII: Key for diagnosis and future planning. [PDF]

Pediatr Int
Okuno T, Ikawa M, Yuasa M, Muramoto A, Fu L, Matsumoto N, Watanabe A.   +6 more
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

Characterization of human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Pichia pastoris as potential enzyme for Mucopolysaccharidosis IVA treatment [PDF]

, 2019
Alméciga-Díaz, Carlos J, Callewaert, Nico, Espejo-Mojica, Angela J, Pimentel-Vera, Luisa N, Rodríguez-López, Alexander, Tiels, Petra, Tomatsu, Shunji, Van Hecke, Annelies   +7 more
core   +1 more source

Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension. [PDF]

JIMD Rep
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

Mucopolysaccharidosis

, 2009
openaire   +1 more source