Results 161 to 170 of about 335,224 (186)

Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome)

American Journal of Medical Genetics. Part A, 2020
Mucopolysaccharidosis Type IVA (MPS IVA), also known as Morquio A syndrome, is an autosomal recessive lysosomal storage disorder that results from variants in the GALNS gene that encodes the enzyme galactosamine‐6‐sulfate sulfatase.
Ryan H Peretz, C. Flora, Darius J. Adams
semanticscholar   +1 more source

The deleterious variants of N-acetylgalactosamine-6-sulfatase (GalN6S) enzyme trigger Morquio a syndrome by disrupting protein foldings

Journal of Biomolecular Structure and Dynamics, 2023
Lysosomal enzymes degrade cellular macromolecules, while their inactivation causes human hereditary metabolic disorders. Mucopolysaccharidosis IVA (MPS IVA; Moquio A syndrome) is one of the lysosomal storage disorders caused by a defective Galactosamine ...
Jiuyi Li, Waqas Ahmad Khalid, Hina Imtiaz, Lingkun Huang, Y. Ali, Rimsha Yousaf, Fouzia Gul, Arif Mahmood, A. Shah, Huiyin Deng, S. Khattak   +10 more
semanticscholar   +1 more source

Mucopolysaccharidosis type IVA (morquio syndrome): A clinical review

Journal of Inherited Metabolic Disease, 1995
SummaryPatients with MPS IV have a clinical disorder quite different from other MPS conditions. The major treatment issue revolves around the prevention of cervical myelopathy, although the other aspects of this multisystem disease should not be forgotten.
H, Northover, R A, Cowie, J E, Wraith
openaire   +2 more sources

A Case of Morquio-Brailford Syndrome

British Journal of Psychiatry, 1964
The principal clinical features of this rare, familial disease are the triad of skeletal deformities, structural anomalies of the cardiovascular system, and mental subnormality.The syndrome is attributed to a recessive gene, and Morquio (1929) held the view that the underlying pathology consisted of mucoid changes occurring in the cartilages in place ...
openaire   +2 more sources

An Evidence-based Approach to the Management of Children With Morquio A Syndrome Presenting With Craniocervical Pathology

Spine, 2018
Study Design. Retrospective case series Objective. The aim of this study was to review clinical and radiological outcomes of craniovertebral surgery in children with Morquio A syndrome (Mucopolysaccharidosis type IVA) and develop an evidence-based ...
N. Williams, A. Narducci, D. Eastwood, M. Cleary, D. Thompson   +4 more
semanticscholar   +1 more source

Cervical kyphotic myelopathy in a child with Morquio syndrome

Child's Nervous System, 1996
A child with Morquio syndrome developed severe cervical kyphosis causing myelopathy. Decompression of the spinal cord was accomplished by an anterior approach using multilevel corpectomies and stabilization with calvarial bone grafts and halo immobilization.
C B, Piccirilli, W M, Chadduck
openaire   +2 more sources

Inspiratory muscle training in Morquio's syndrome: A case study

Pediatric Pulmonology, 2006
We reported a case of MPS IV A presented with dyspnea on exertion and respiratory muscle weakness. The patient underwent inspiratory muscle training (IMT) using threshold loading for 18 weeks. After 6 weeks of initial IMT, aerobic exercise training consisting of walking was added to the treatment program.
Sema, Savci, Melda, Ozturk, Deniz, Inal-Ince, Zuhal, Gultekin, Hulya, Arikan, H Serap Kalkanoglu, Sivri   +5 more
openaire   +2 more sources

Morquio B syndrome: A primary defect in β‐galactosidase

American Journal of Medical Genetics, 1983
AbstractFibroblasts from patients with Morquio B syndrome contain normal numbers of β‐galactosidase molecules with normal turnover but strongly reduced activity per enzyme molecule. Various substrate affinities are abnormal: the KM for methylum belliferyl (MU)‐β‐galactoside is 4–10‐fold elevated and affinity for keratan sulphate and oligosaccharides ...
G T, van der Horst, W J, Kleijer, A T, Hoogeveen, J G, Huijmans, W, Blom, O P, van Diggelen   +5 more
openaire   +2 more sources

A review of Morquio syndrome.

American journal of orthopedics (Belle Mead, N.J.), 1997
Morquio syndrome is one of the mucopolysaccharidoses. Glycosaminoglycans accumulate within the cells, leading to many systemic alterations. Alterations in connective tissue and cartilage ground substance result in abnormal formation and growth of the skeletal system.
M, Mikles, R P, Stanton
openaire   +1 more source

Morgagni hernia in a patient with Morquio syndrome

Hernia, 2000
Morgagni hernia is a type of congenital diaphragmatic hernia which constitutes 2–6% of congenital diaphragmatic hernia cases. Morquio syndrome, a type of lysosomal hydrolase deficiency, results in keratan sulphate accumulation and skeletal dystrophy. Other anomalies such as cardiac anomalies and trisomy 21 may accompany the Morquio syndrome; however ...
T. Z. Nursal, M. Atli, V. Kaynaroglu
openaire   +1 more source