Results 141 to 150 of about 4,684 (195)

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

Identification of Multiple Sulfatase Deficiency (MSD) in newborn screening: A case study. [PDF]

Mol Genet Metab Rep
Donti TR, DiPerna JC, Hegde MR, Revvity Omics, Inc.   +4 more
europepmc   +1 more source

Three-dimensional human mucopolysaccharidosis IVA chondrocyte culture reveals significant impairments in the lysosomal-mitochondrial crosstalk. [PDF]

Sci Rep
Leal AF, Saikia S, Khan SA, Tomatsu S.
europepmc   +1 more source

Molecular Therapy and Nucleic Acid Adeno-Associated Virus-Based Gene Therapy Delivering Combinations of Two Growth-Associated Genes to MPS IVA Mice

Mucopolysaccharidosis type IVA (MPS IVA) is caused by a deficiency of the galactosamine (N-acetyl)-6-sulfatase (GALNS) enzyme responsible for the degradation of specific glycosaminoglycans (GAGs).
Fnu, Nidhi, Celik, Betul, Herreño-Pachón, Angélica María, Rintz, Estera, Benincore-Flórez, Eliana, Tomatsu, Shunji, Khan, Shaukat   +6 more
core  

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

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

A Novel Missense Mutation of c.965C>T (p.Ala322Val) in the Human <i>GALNS</i> Gene Results in Severe Mucopolysaccharidosis Type IVA. [PDF]

Iran J Pathol
Safavi M, Setoodeh A, Ghoddoosi M.
europepmc   +1 more source

Rat models of musculoskeletal lysosomal storage disorders and their role in pre-clinical evaluation of gene therapy approaches. [PDF]

Mamm Genome
Marcó S, Muñoz S, Bosch F, Jimenez V.
europepmc   +1 more source

Lentiviral Vector-Mediated <i>Ex Vivo</i> Hematopoietic Stem Cell Gene Therapy for Mucopolysaccharidosis IVA Murine Model. [PDF]

Hum Gene Ther
Celik B, Rintz E, Sansanwal N, Khan S, Bigger B, Tomatsu S.   +5 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