Results 131 to 140 of about 8,071 (187)

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

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

CRISPR/nCas9-Edited CD34+ Cells Rescue Mucopolysaccharidosis IVA Fibroblasts Phenotype. [PDF]

Int J Mol Sci
Herreno-Pachón AM, Leal AF, Khan S, Alméciga-Díaz CJ, Tomatsu S.   +4 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

Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA. [PDF]

Int J Mol Sci
Ago Y, Khan S, Klipner K, Bradford A, Tomatsu S.   +4 more
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

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

A Rare Case of Morquio Syndrome in Palestine: Clinical, Radiological, and Genetic Insights. [PDF]

Cureus
Farah RE, Farah RE, Ayasa IW, Abuisneina S.   +3 more
europepmc   +1 more source

Systematic Analysis of Multiple Imaging Modalities in Infants Diagnosed with Mucopolysaccharidosis by Newborn Screening. [PDF]

Diagnostics (Basel)
Lee CL, Chang SW, Fang HH, Chuang CK, Chiu HC, Chang YH, Tu YR, Lo YT, Wu JY, Lin HY, Lin SP.   +10 more
europepmc   +1 more source

Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life. [PDF]

Ital J Pediatr
Zhang W, Huang Y, Su X, Zhao X, Sheng H, Liang C, Jiang M, Zeng C, Cai Y, Lin Y, Shao Y, Liu S, Jiang H, Liu L.   +13 more
europepmc   +1 more source