Results 101 to 110 of about 1,760 (179)

AAV Gene Therapy for MPS IVA with Induction of Immune Tolerance via Oral Administration of Epitope Peptides of N-Acetylgalactosamine-6-sulfate Sulfatase. [PDF]

Int J Mol Sci
Saikia S, Ago Y, Nidhi F, Khan S, Ma Z, Tomatsu S.   +5 more
europepmc   +1 more source

Additional file 1 of Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia

Supplementary Material ...
AlSayed, Moeenaldeen, Arafa, Dia, Al-Khawajha, Huda, Afqi, Manal, Al-Sanna’a, Nouriya, Sunbul, Rawda, Faden, Maha   +6 more
openaire   +1 more source

Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS). [PDF]

Orphanet J Rare Dis
Stepien KM, Burton BK, Bober MB, Campeau PM, Ellaway C, Bhattacharya K, Guffon N, Hinds D, Hunt A, Lail A, Lin SP, Magner M, Murphy E, Reisewitz P, Mitchell JJ.   +14 more
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  

Advances in Therapeutic Options for Pulmonary and Sleep Disorders in Mucopolysaccharidosis (MPS) Patients: A Narrative Review. [PDF]

Adv Respir Med
Akpa B.
europepmc   +1 more source

Clinical and Molecular Characterization of Pakistani Mucopolysaccharidosis Families with <i>SGSH</i> and <i>GALNS</i> Deficiencies. [PDF]

Genes (Basel)
Awan FN, Zulfiqar S, Eiman L, Asif M, Hussain MS, Dahl N, Baig SM, Oda H.   +7 more
europepmc   +1 more source

Assessment of bone health and bone mineral density in patients with mucopolysaccharidosis receiving enzyme replacement therapy. [PDF]

BMC Pediatr
El Feil NSA, Abuzaid Y, Mobarak A.
europepmc   +1 more source

A cross-sectional observational study: assessment of cardiovascular damage in mucopolysaccharidoses mutation carriers. [PDF]

Cardiovasc Diagn Ther
Nguyen TL, Semyachkina AN, Voinova VY, Shkolnikova MA, Luong TA, Le HK, Reznik EV.   +6 more
europepmc   +1 more source

Adeno-Associated Virus Gene Transfer Ameliorates Progression of Skeletal Lesions in Mucopolysaccharidosis IVA Mice.

Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal congenital metabolic lysosomal disease caused by a deficiency of ...
Piechnik, Matthew, Stapleton, Molly, DO, Sawamoto, Kazuki, Herreño-Pachón, Angélica María, Álvarez, Jose Victor, Tomatsu, Shunji, Khan, Shaukat   +6 more
core  

Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses. [PDF]

Biochem Biophys Rep
Oboshi W, Hirakiyama A, Miura M, Omachi H, Tanaka M, Seo JH, Ohtake A, Osawa Y, Ishige M, Kosuga M, Munenaga T, Migita O, Nyuzuki H, Sasai H, Fukuda T, Sano S, Ito T, Bo R, Takeshima Y, Esaki H, Inoue T, Nagamitsu S, Watanabe Y, Nakamura K, Sawada H, Maruyama S, Murayama K, Okuyama T.   +27 more
europepmc   +1 more source