Results 121 to 130 of about 11,431 (185)

Cross-species efficacy of AAV-mediated ARSA replacement for metachromatic leukodystrophy. [PDF]

J Clin Invest
Ramachandran S, Ardinger J, Bu J, Ramos M, Guo L, Ghosh D, Hossain M, Chou SC, Chen Y, Wischhof E, Ayloo S, Trullo R, Luo Y, Hogestyn JM, DuBreuil DM, Crosier E, Flyer-Adams JG, Richards AM, Tsabar M, Gaglia G, Nass S, Nambiar B, Woodcock D, O'Riordan C, Tang Q, Elmer B, Zhang B, Goulet M, Mueller C.   +28 more
europepmc   +1 more source

Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Gargani S, Manthou ME, Dermitzakis I, Theotokis P.   +6 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

Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case. [PDF]

Intractable Rare Dis Res
Shu H, Shang X, Sun Y, Li G, Chen C, Yang J.   +5 more
europepmc   +1 more source

Functional divergence of conserved developmental plasticity genes between two distantly related nematodes. [PDF]

Sci Rep
Wighard S, Witte H, Sommer RJ.
europepmc   +1 more source

Merging evans syndrome with mucopolysaccharidosis type II: a case report. [PDF]

Front Pediatr
Wang X, Zhang J, Tang Y, Liu C, Hu P, Yang Y, Chen H.   +6 more
europepmc   +1 more source

MUSCULOSKELETAL ALTERATIONS OF ORTHOPEDIC INTEREST IN MUCOPOLYSACCHARIDOSES. [PDF]

Acta Ortop Bras
Matos MA, Lopes PS.
europepmc   +1 more source

The role of Akkermansia muciniphila sulfatases in colonic mucin utilisation

Dey D, Salman ND, Tomlinson CW, Jin C, Raba G, Schaus SR, Nilsson M, McIver Z, Simpkin A, Davy M, Rigden DJ, Czjzek M, Byrne DP, Oltean M, Case A, Baumann CG, Wright GS, van der Post S, Yates EA, Martens EC, Davey L, Luis AS, Cartmell A.   +22 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

Conserved glycan-utilization strategies shape Akkermansiaceae success across aquatic and gut ecosystems. [PDF]

ISME J
Wilkie I, Von Possel N, Sauma-Sánchez T, Reintjes G, Orellana LH.   +4 more
europepmc   +1 more source