Results 111 to 120 of about 1,760 (179)

Collagen Type II-Targeting Lentiviral Gene Therapy for Mucopolysaccharidosis IVA. [PDF]

Curr Issues Mol Biol
Celik B, Saikia S, Khan S, Musini KS, Tomatsu S.   +4 more
europepmc   +1 more source

Recent advances in mucopolysaccharidosis IVA treatment. [PDF]

Orphanet J Rare Dis
Leal AF, Pachajoa H.
europepmc   +1 more source

Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype-phenotype trends and novel GALNS variants. [PDF]

Mol Genet Metab Rep
Wahhab SBA, Thejeal RF.
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

Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis. [PDF]

Mol Genet Metab
Kell P, Mishra S, D'Souza P, Tifft CJ, Dietzen DJ, Lasio LD, Carson JP, Hong X, Schiffmann R, Ledesma MD, Tayebi N, Dickson PI, Porter FD, Ory DS, Jiang X.   +14 more
europepmc   +1 more source

Advances in mucopolysaccharidosis research: the impact of mass spectrometry-based approaches. [PDF]

Clin Proteomics
Ramarajan MG, Garapati K, Ghose V, Pandey A.   +3 more
europepmc   +1 more source

Long-Term Liver-Targeted AAV8 Gene Therapy for Mucopolysaccharidosis IVA. [PDF]

Curr Issues Mol Biol
Khan SA, Benincore-Florez E, Nidhi F, Álvarez JV, Holder DA, Tomatsu S.   +5 more
europepmc   +1 more source

C-Type Natriuretic Peptide Derivatives: Orthopaedic Implications in Achondroplasia. [PDF]

J Pediatr Soc North Am
Qian E, Chen K, Montoya R, Sabharwal S.
europepmc   +1 more source

Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview. [PDF]

Biomolecules
Lipiński P, Różdżyńska-Świątkowska A, Wiśniewska K, Rusecka J, Ługowska A, Żuber Z, Jezela-Stanek A, Cyske Z, Gaffke L, Pierzynowska K, Węgrzyn G, Tylki-Szymańska A.   +11 more
europepmc   +1 more source

Epigenetic landscape in lysosomal storage disorders: mechanisms and modulation. [PDF]

Front Genet
Leal AF, Pachajoa H, Tomatsu S.
europepmc   +1 more source