Results 161 to 170 of about 8,071 (187)

Heteroallelic missense mutations of the galactosamine‐6‐sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA)

American Journal of Medical Genetics, 1996
Morquio disease (MPS IVA) is an autosomal recessive disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Patients commonly present in early infancy with growth failure, spondyloepiphyseal dysplasia, corneal opacification, and keratan sulfaturia, but milder forms have been described.
D E, Cole, S, Fukuda, B A, Gordon, J W, Rip, A N, LeCouteur, C A, Rupar, S, Tomatsu, T, Ogawa, K, Sukegawa, T, Orii   +9 more
openaire   +2 more sources

MPS-specific physical symptom score (PSS) and adaptive functions in MPS IVA: A cross sectional study

Molecular Genetics and Metabolism, 2021
Alia Ahmed, Brenda Diethelm-Okita, Kyle Rudser, Julie B. Eisengart, Kelly E. King, Ashley Schneider, Sarah Lewis, Chester B. Whitley   +7 more
openaire   +1 more source

Murine model (Galnstm(C76S)slu) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins

Molecular Genetics and Metabolism, 2007
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), required for degradation of keratan sulfate and chondroitin-6-sulfate. In order to study the effects of a missense mutation in the active site cysteine in the GALNS gene that is conserved in all mammalian ...
Shunji, Tomatsu, Carole, Vogler, Adriana M, Montaño, Monica, Gutierrez, Hirotaka, Oikawa, Vu Chi, Dung, Tadao, Orii, Akihiko, Noguchi, William S, Sly   +8 more
openaire   +2 more sources

Multiplex MS/MS method to measure MPS II, MPS IIIB, MPS IVA, MPS VI enzyme activities in dried blood spots

Molecular Genetics and Metabolism, 2016
Anna Potier, Jason Cournoyer, Joe Trometer, Mack Schermer, Fan Yi, Naveen Kumar, Zdenek Spacil, Arun Kumar, Hsuan-Chieh Liao, Michael H. Gelb, Ronald Scott, Frantisek Turecek   +11 more
openaire   +1 more source

BMN 110 (Recombinant Human GALNS), an Investigational Enzyme Replacement Therapy for Mucopolysaccharidosis Type IVA (MPS IVA Or Morquio Syndrome), Promotes Type II Collagen Synthesis in MPS IVA Patients

Molecular Genetics and Metabolism, 2012
Florence Lorget, Sungwook Lee, Kelly Lau, Laurie Tsuruda, Chris Hendriksz, Simon Jones, Ashok Vellodi, Sabrina cheng, Celeste Decker, Charles O'Neill   +9 more
openaire   +1 more source

Efficient phenotype recovery of MPS IVA fibroblasts after CRISPR/nCas9-mediated genome editing

Molecular Genetics and Metabolism, 2022
Andrés F. Leal, Carlos J. Alméciga-Díaz   +1 more
openaire   +1 more source

Airway stenting in MPS IVA (Morquio syndrome type A)

Molecular Genetics and Metabolism, 2019
Mildrid Yeo, Sergei Korenev, Richard Hewitt, Derek Roebuck, Maureen Cleary, Anupam Chakrapani   +5 more
openaire   +1 more source

42. Immortalization of human MPS IVA chondrocytes: Development of a new tool to study pathophysiology and assess therapeutic strategies for MPS IVA

Molecular Genetics and Metabolism, 2010
Melita Dvorak-Ewell, Magali Richard, Michael Vellard   +2 more
openaire   +1 more source

Cervical spine surgery in MPS IVA: a single center experience

Molecular Genetics and Metabolism, 2017
Karim Zuberi, Karen L Tylee, Roberto Ramirez, Jean Mercer, Gill Moss, Elizabeth Jameson, Bernd Schwahn, Simon A Jones, Neville Wright, Alexander Broomfield   +9 more
openaire   +1 more source

Real-world impact of enzyme replacement therapy on endurance in patients with MPS IVA

Molecular Genetics and Metabolism, 2023
Pascal Reisewitz, David Hinds, Sara Dosenovic, Yonghao Ma, Ashok Jha, Abigail Hunt, Barbara K. Burton, Nathalie Guffon   +7 more
openaire   +1 more source