Results 151 to 160 of about 25,294 (214)

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

Computational Prediction of Deleterious SNPs in the GALNS Gene Implicated in Morquio A Syndrome (MPS IVA). [PDF]

ACS Omega
Priya M, Vasudev V, N SK, Ahmed SS, Ramasamy M.   +4 more
europepmc   +1 more source

Myhre Syndrome Presenting With Congenital Proximal Radioulnar Synostosis: A Case Report. [PDF]

Cureus
Lin IS, Lee HJ, Chang WN.
europepmc   +1 more source

Rare Presentation of Attenuated Mucopolysaccharidosis Type IIIA as Isolated Retinitis Pigmentosa. [PDF]

J Vitreoretin Dis
Seela JR, Moon JY, Montezuma SR.
europepmc   +1 more source

<i>In vivo</i> CRISPR/Cas9-mediated gene integration corrects mucopolysaccharidosis type II in mice. [PDF]

Genes Dis
Yu H, Qin Q, Cui S, Wa Y, Dong K, Ji W, Jia X, Fu S, Wu J, Sun W.   +9 more
europepmc   +1 more source

A Rare Case of Hunter Syndrome (Mucopolysaccharidosis II) With Bilateral Maculopathy Associated With Rod-Cone Dystrophy. [PDF]

Cureus
Quaicoe ASP, Cornish EE, Chong R.
europepmc   +1 more source

Ultrasonographic hip morphology in mucopolysaccharidosis type I Hurler after hematopoietic stem cell gene therapy. [PDF]

J Child Orthop
De Pellegrin M, Filisetti C, Cossutta M, Colombo M, Consiglieri G, Tucci F, Aiuti A, Bernardo ME.   +7 more
europepmc   +1 more source

A case of recurrent spinal cord compression at craniocervical junction due to type IV mucopolysaccharidosis. [PDF]

Surg Neurol Int
Hashimoto J, Kawasaki T, Kobayashi T, Ioroi Y, Takayama M.   +4 more
europepmc   +1 more source

Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I. [PDF]

Orphanet J Rare Dis
Guffon N, Pettazzoni M, Pangaud N, Reynes N, Le Peillet Feuillet E, Journeau P, Fouilhoux A.   +6 more
europepmc   +1 more source