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Molecular Genetics and Metabolism, 2009 Aim: To investigate extracellular matrix (ECM) characteristics of cortical bone and articular cartilage of patients with Morquio syndrome A, a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase.
Ruud A Bank +2 more
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Elosulfase alfa (BMN 110) for the treatment of mucopolysaccharidosis IVA (Morquio A Syndrome) [PDF]
Expert Review of Clinical Pharmacology, 2016 INTRODUCTION : Morquio A syndrome is a rare, autosomal recessive, lysosomal storage disorder caused bya deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS).
Christian J Hendriksz
exaly +2 more sources
Oral manifestations of Morquio's syndrome
Oral Surgery, Oral Medicine, Oral Pathology, 1975The clinical and laboratory findings in two siblings affected with Morquio's syndrome are described. The oral findings, consisting of disturbances in the structure of the enamel in both deciduous and permanent teeth, resemble those of amelogenesis imperfecta, Type 1.
M, Sela, E, Eidelman, S, Yatziv
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Morquio Syndrome: A Rehabilitation Perspective
The Journal of Spinal Cord Medicine, 1996Morquio Syndrome (mucopolysaccharidosis type IV A) is a rare inherited connective tissue disorder characterized by skeletal dysplasia, restrictive pulmonary disease and normal intelligence. Tetraplegia secondary to subluxation of C1 over C2 because of odontoid dysplasia is a common occurrence in these patients but there are limited descriptions ...
M S, Gulati, M A, Agin
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The morquio syndrome: Neuropathologyxs and biochemistry
Annals of Neurology, 1978AbstractThe activity of N‐acetyl galactosamine‐6‐sulfate sulfatase was studied for the first time in the liver and brain of a patient with a clinically typical case of Morquio syndrome with keratosulfaturia. As has been demonstrated in the fibroblasts of patients with this syndrome, this enzymatic activity was markedly decreased in both organs ...
A, Koto +4 more
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The Lower Extremity in Morquio Syndrome
Journal of Pediatric Orthopaedics, 2012The modalities and results of surgical intervention in the lower extremity in children with Morquio syndrome type A [mucopolysaccharidosis-IV (MPS-IVA)] have not been well described. The aims of this study are to define the lower extremity deformities, and describe the results of intervention in MPS-IVA patients.Retrospective chart and radiograph ...
Arjun A, Dhawale +5 more
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CUTANEOUS CHANGES IN THE MORQUIO SYNDROME
British Journal of Dermatology, 1969SUMMARY.— Two cases of the Morquio syndrome, with associated mucopolysacchariduria, are described. Striking cutaneous abnormalities were found in each, the skin being loose, thickened, tough and inelastic particularly at the extremities. Generalized telangiectasia was present especially on the face and limbs.
M W, Greaves, P M, Inman
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1996
Morquio’s syndrome is one of the mucopolysaccharide abnormalities. The mucopolysaccharides are complex sugars which require a variety of enzymes for their correct metabolism. There is a group of diseases, known as the mucopolysaccharides, each of which has a specific enzyme defect.
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Morquio’s syndrome is one of the mucopolysaccharide abnormalities. The mucopolysaccharides are complex sugars which require a variety of enzymes for their correct metabolism. There is a group of diseases, known as the mucopolysaccharides, each of which has a specific enzyme defect.
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The American journal of otology, 1987
Treatment of hereditary syndromes is still hampered by a scarcity of information. Morquio's syndrome is a mucopolysaccharidosis associated with chronic middle ear disease and with mixed or sensorineural hearing loss, although some patients with this syndrome have had normal hearing. This case is presented to report the occurrence of hearing loss and to
R T, Sataloff +2 more
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Treatment of hereditary syndromes is still hampered by a scarcity of information. Morquio's syndrome is a mucopolysaccharidosis associated with chronic middle ear disease and with mixed or sensorineural hearing loss, although some patients with this syndrome have had normal hearing. This case is presented to report the occurrence of hearing loss and to
R T, Sataloff +2 more
openaire +1 more source