Results 121 to 130 of about 1,760 (179)

Integrase-Deficient Lentiviral Vector as a Platform for Efficient CRISPR/Cas9-Mediated Gene Editing for Mucopolysaccharidosis IVA. [PDF]

Int J Mol Sci
Nidhi F, Tomatsu S.
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

Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs. [PDF]

JIMD Rep, 2017
Ellsworth KA, Pollard LM, Cathey S, Wood T.   +3 more
europepmc   +1 more source

Mucopolysaccharidosis type IVA and severe hidradenitis suppurativa: A case series. [PDF]

JAAD Case Rep
Fialová J, Kojanová M, Šáhó R, Magner M.   +3 more
europepmc   +1 more source

Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders. [PDF]

Genes (Basel)
Urizar E, McCarron EP, Gadepalli C, Bentley A, Woolfson P, Lin S, Iosifidis C, Browning AC, Bassett J, Senarathne UD, Indika NR, Church HJ, Cooper JA, Menendez Lorenzo J, Farrugia ME, Jones SA, Black GC, Stepien KM.   +17 more
europepmc   +1 more source

Craniovertebral Junction Compression in Patients With Morquio Syndrome: Case Series and Literature Review. [PDF]

Cureus
Rakshit P, Sadayandi Ramesh A, Gopikrishnan R, Mani MK, Sathia Prabhu A.   +4 more
europepmc   +1 more source

Mucopolysaccharidoses: A biochemical study under limited resources. [PDF]

Mol Genet Metab Rep
Bouzid F, El Fissi H, Karim K, Sebbar MS, Jabir B, Chuis N, Msanda F, Alif N.   +7 more
europepmc   +1 more source

Improving access to rare disease diagnostics in Africa: insights from a multinational pilot study. [PDF]

Orphanet J Rare Dis
Swanepoel AC, Hendriksz CJ, Mukhwana R, Oduwole A, Abdalla AT, Ameyaw E, Muze KC, Auruku A, Pinto F, Joel D, Aleksovska V, Collin-Histed T, Odero R, Conradie EH.   +13 more
europepmc   +1 more source

<i>In vivo</i> direct lentiviral gene therapy improves disease pathology in a mucopolysaccharidosis IVA murine model. [PDF]

Mol Ther Methods Clin Dev
Celik B, Rintz E, Khan S, Leal AF, Nidhi F, Tomatsu S.   +5 more
europepmc   +1 more source

Iron metabolism and hematological abnormalities in adult patients affected with mucopolysaccharidoses. [PDF]

Mol Genet Metab Rep
Kaciulyte G, Yorulmaz G, Sharma R, Jones SA, Wynn R, Church H, Tylee K, Bilgin M, Jovanovic A, Woolfson P, Stepien KM.   +10 more
europepmc   +1 more source