Results 101 to 110 of about 2,254 (171)

Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene [PDF]

Journal of Medical Genetics, 2004
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disorder caused by a deficiency of the lysosomal N-acetylgalactosamine-6-sulfate sulfatase (GALNS; E.C.3.1.6.4; OMIM# 253000). GALNS is one of the sulfatases required to degrade glycosaminoglycans (GAGs), keratan sulfate (KS), and chondroitin-6-sulfate (C6S).
S, Tomatsu, T, Nishioka, A M, Montaño, M A, Gutierrez, O S, Pena, K O, Orii, W S, Sly, S, Yamaguchi, T, Orii, E, Paschke, S G, Kircher, A, Noguchi   +11 more
openaire   +2 more sources

Remote spinal cord injury in mucopolysaccharidosis type IVA after cervical decompression [PDF]

Neurology, 2014
Morquio A syndrome (Online Mendelian Inheritance in Man #253000) is a lysosomal storage disease caused by deficiency of N-acetylgalactosamine-6-sulfatase encoded by the GALNS gene. Key clinical features are skeletal dysplasia and short stature.
Felippe, Borlot, Paula Ricci, Arantes, Alberto Carlos, Capel Cardoso, Chong Ae, Kim   +3 more
openaire   +2 more sources

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature

JIMD Reports, Volume 65, Issue 2, Page 85-101, March 2024.
Abstract Lysosomal storage disorders (LSDs) in adults have milder phenotype and variable age at presentation. Several studies have described the phenotype, genotype and treatment outcomes for adult‐onset LSDs like Gaucher, Fabry, Pompe disease and others. We describe the first systematic study on the occurrence of LSDs in an adult population from India.
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth   +11 more
wiley   +1 more source

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome [PDF]

, 2016
Long-term efficacy and safety of elosulfase alfa enzyme replacement therapy were evaluated in Morquio A patients over 96weeks (reaching 120weeks in total from pre-treatment baseline) in an open-label, multi-center, phase III extension study.
AlSayed, MD, Berger, KI, Burton, BK, Giugliani, R, Guelbert, N, Harmatz, PR, Hendriksz, CJ, Hughes, DA, Jurecki, E, Matousek, R, Mitchell, JJ, Parini, R, Raiman, J, Shaywitz, AJ, Slasor, P, Solano Villarreal, ML, Stewart, F   +16 more
core   +1 more source

Gene therapies for mucopolysaccharidoses

Journal of Inherited Metabolic Disease, Volume 47, Issue 1, Page 135-144, January 2024.
Abstract Current specific treatments for mucopolysaccharidoses (MPSs) include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT). Both treatments are hampered by several limitations, including lack of efficacy on brain and skeletal manifestations, need for lifelong injections, and high costs.
Alessandro Rossi, Nicola Brunetti‐Pierri   +1 more
wiley   +1 more source

Circumventing antivector immunity: potential use of nonhuman adenoviral vectors [PDF]

, 2014
Adenoviruses are efficient gene delivery vectors based on their ability to transduce a wide variety of cell types and drive high-level transient transgene expression. While there have been advances in modifying human adenoviral (HAdV) vectors to increase
Beard C.W., Benkö M., Cauthen A.N., Crawford-Miksza L., Estrella Lopez-Gordo, Gall J., Gall J.G., Gattoni A., Ginsberg H.S., Haviv Y.S., Hofmann C., Iva I. Podgorski, Kajon A.E., Kanerva A., Kass-Eisler A., Kuriyama S., Mastrangeli A., Michou A.I., Nicholas Downes, Ramon Alemany, Rogozhin V.N., Roy S., Seiradake E., Shmarov M.M., Soudais C., Tutykhina I.L., Wang D.Y., Wohlfart C., Ying B., Zakhartchouk A.N., Zeng Q.   +30 more
core   +3 more sources

Endocrine disorders in adult patients with inherited metabolic diseases: Their diagnosis and long‐term management

Clinical Endocrinology, Volume 101, Issue 5, Page 562-568, November 2024.
Adrian H. Heald, John Bassett, Nuria Puente‐Ruiz, Peter Clayton, Karolina M. Stepien   +4 more
wiley   +1 more source

AB036. Cardiac features in Taiwanese patients with mucopolysaccharidosis IVA [PDF]

Annals of Translational Medicine, 2017
Lin H, Lin S, Chen M, Chuang C, Lin S, Hung C, Niu D.   +6 more
europepmc   +3 more sources

Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients [PDF]

, 2012
Morquio A is classically described as a skeletal dysplasia, but the impact of the abnormalities on the upper limb has not been described.The aim of our study is to assess the level of subjective and objective functions of the hand and upper limb in Morquio A patients in order to advance understanding as this may change future management for this ...
Riffat, Aslam, Annelotte C M, van Bommel, Christian J, Hendriksz, Andrea, Jester   +3 more
openaire   +2 more sources

Adeno-associated virus-based gene therapy delivering combinations of two growth-associated genes to MPS IVA mice

Molecular Therapy: Nucleic Acids
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).
Estera Rintz, Betul Celik, Nidhi Fnu, Angélica María Herreño-Pachón, Shaukat Khan, Eliana Benincore-Flórez, Shunji Tomatsu   +6 more
doaj   +1 more source