Results 121 to 130 of about 21,161 (167)

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

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

Long-term follow-up and response to elosulfase alfa in mucopolysaccharidosis type IVA: a single-center cohort from the Czech Republic. [PDF]

Orphanet J Rare Dis
Šáhó R, Murgašová L, Tesařová M, Poupětová H, Nestrašil I, Zeman J, Magner M.   +6 more
europepmc   +1 more source

Mapping Sanfilippo Syndrome: A Multisystem Clinicopathological Autopsy. [PDF]

Diagnostics (Basel)
Trandafirescu MF, Avădănei ER, Filip N, Saveanu CI, Foia I, Toma V, Baroi LG, Anton-Paduraru DT, Moisa SM, Lozneanu L.   +9 more
europepmc   +1 more source

Transition Care for Young People with Rare Bone and Mineral Conditions: A Scoping Review. [PDF]

Adv Ther
Coutinho S, Jensen LS, Gamage TH, Hestnes TM, Appelmann-Dijkstra NM, Bazzocchi A, Cohen-Solal M, Crowley RK, Eekhoff EMW, Großmann N, la Forgia MC, Travessa A, Mantovani G, Masi L, Micha D, Oheim R, Sylvest TT, Trisolino G, Winter EM, Horn J, Wekre LL.   +20 more
europepmc   +1 more source

An international observational study on transition of care from paediatric to adult services for patients with mucopolysaccharidosis II. [PDF]

BMC Health Serv Res
Stepien KM, Ayodele O, Muenzer J, Giugliani R, Jackson C, Meade L, Scarpa M, Lampe C, Audi J, Jain S, Toro MD.   +10 more
europepmc   +1 more source

Author Correction: TFEB, FOXO3 and TLR4 in resveratrol-induced autophagy in a mucopolysaccharidosis IIIB mouse model. [PDF]

Exp Mol Med
Rintz E, Podlacha M, Gaffke L, Jerzemowska G, Cyske Z, Pierzynowska K, Węgrzyn G.   +6 more
europepmc   +1 more source

Clinical and Molecular Characterization of Pakistani Mucopolysaccharidosis Families with <i>SGSH</i> and <i>GALNS</i> Deficiencies. [PDF]

Genes (Basel)
Awan FN, Zulfiqar S, Eiman L, Asif M, Hussain MS, Dahl N, Baig SM, Oda H.   +7 more
europepmc   +1 more source

Molecular Modeling of N-Acetylglucosamine Binding to the I154R Mutant of NAGLU: Pathogenic Insights into Sanfilippo Syndrome Type B. [PDF]

Int J Mol Sci
Kannan P, Priya Nanda Kumar M, Kumar Nanda Kumar S, Vasudevan V, Kaviarasan K, Ramasamy M.   +5 more
europepmc   +1 more source

Acute Airway Crisis in Mucopolysaccharidosis VI: Management Challenges. [PDF]

Diagnostics (Basel)
Tulebayeva A, Gadepalli C, Sharipova M.
europepmc   +1 more source