Results 141 to 150 of about 1,760 (179)

Morquio syndrome: Clinical findings in 11 patients with MPS IVA and 2 patients with MPS IVB

Human Genetics, 1981
Genetic heterogeneity of the Morquio syndrome has been known since deficiency of β-galactosidase was detected in some patients in addition to the deficiency of N-acetylgalactosamine-6-sulphate sulphatase in the classical form of Morquio syndrome. The clinical findings of 11 patients with MPS IVA, the classical form, and 2 patients with MPS IV B, a ...
W, Holzgreve, H, Gröbe, K, von Figura, H, Kresse, H, Beck, J F, Mattei   +5 more
openaire   +2 more sources

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

Skeletal Radiology, 2014
OBJECTIVE: Mucopolysaccharidosis IVA (MPS IVA, or Morquio A syndrome) and VI (MPS VI, or Maroteaux-Lamy syndrome) are autosomal recessive lysosomal storage disorders.
Ralph S Lachman, Barbara K Burton, Lorne A Clarke   +2 more
exaly   +3 more sources

Development of Substrate Degradation Enzyme Therapy for Mucopolysaccharidosis IVA Murine Model

International Journal of Molecular Sciences, 2019
Mucopolysaccharidosis IVA (MPS IVA) is caused by a deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Conventional enzyme replacement therapy (ERT) is approved for MPS IVA.
Kazuki Sawamoto, Shunji Tomatsu, Sawamoto Kazuki   +2 more
exaly   +4 more sources

Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II

Molecular Genetics and Metabolism, 2012
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS) and is characterized by the accumulation of glycosaminoglycans (GAGs). MPS II has been treated by hematopoietic stem cell therapy (HSCT)/enzyme replacement therapy (ERT), but its effectiveness in the central ...
Takashi, Higuchi, Hiromi, Shimizu, Takahiro, Fukuda, Shiho, Kawagoe, Juri, Matsumoto, Yohta, Shimada, Hiroshi, Kobayashi, Hiroyuki, Ida, Toya, Ohashi, Hideto, Morimoto, Tohru, Hirato, Katsuya, Nishino, Yoshikatsu, Eto   +12 more
openaire   +2 more sources

Outcomes from 18 years of cervical spine surgery in MPS IVA: a single centre’s experience

Child's Nervous System, 2018
This study examines the long-term outcomes of paediatric Morquio (MPS IVA) patients undergoing cervical spine surgery and evaluates the factors that impacting this.A retrospective review was performed on all MPS IVA patients undergoing cervical spine surgery, since the introduction of standardised neuroradiological screening. The impact of preoperative
A. Broomfield, K. Zuberi, J. Mercer, G. Moss, N. Finnegan, P. Hensman, R. Walker, S. Bukhari, N. B. Wright, F. Stewart, S. A. Jones, R. Ramirez   +11 more
openaire   +2 more sources

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

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

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

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