Results 131 to 140 of about 21,613 (172)

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

The Impact of Hydrotherapy on Health-Related Quality of Life, Pain and Mobility in Individuals With Mucopolysaccharidosis Type II (Hunter Syndrome): A Pilot Feasibility Study. [PDF]

JIMD Rep
Oldham A, Stockton N, Warburton M, Heal C, Meehan M, Stepien KM, MPS Society.   +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

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

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

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