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Oral findings in the Morquio syndrome (mucopolysaccharidosis IV)
Oral Surgery, Oral Medicine, Oral Pathology, 1975The Morquio syndrome is characterized by a specific pattern of platyspondylia, corneal opacities, keratosulfate excretion in the urine, and dental abnormalities. Oral examinations were performed on twelve patients with the condition. The maxillary anterior teeth were widely spaced and flared.
L S, Levin, R J, Jorgenson, C F, Salinas
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Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A)
Graefe's Archive for Clinical and Experimental Ophthalmology, 1990Morquio syndrome (mucopolysaccharidosis IV) is a hereditary lysosomal storage disease characterized by dwarfism, spondyloepiphyseal and dental abnormalities, corneal opacification, and normal intelligence. We report the light and electron microscopic features of two patients with mucopolysaccharidosis type IV A (MPS IV A).
M, Iwamoto +5 more
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Cataracts in Morquio syndrome (mucopolysaccharidosis IV A).
Ophthalmic paediatrics and genetics, 1993Three siblings with Morquio syndrome (mucopolysaccharidosis IV A) are described. In addition to the characteristic dwarfism with skeletal deformities, odontoid anomalies, hearing loss and corneal clouding, the authors found almost identical lens opacities in all three patients.
H, Olsen, K, Baggesen, A K, Sjolie
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American Journal of Medical Genetics. Part A, 2021
Mucopolysaccharidosis (MPS) IVA is a rare autosomal recessive disease with a highly variable distribution worldwide. Discrepancies in the incidence of MPS IVA among populations of different ethnicities are mostly attributed to founder effects ...
Simone Silva Dos Santos-Lopes +8 more
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Mucopolysaccharidosis (MPS) IVA is a rare autosomal recessive disease with a highly variable distribution worldwide. Discrepancies in the incidence of MPS IVA among populations of different ethnicities are mostly attributed to founder effects ...
Simone Silva Dos Santos-Lopes +8 more
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, 2021
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that often present with a difficult airway. The trachea is usually narrowed and flattened, making the choice of correct technique and endotracheal tube (ETT) size crucial ...
P. Tiwari, Nirav M Kotak, A. Shetty
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Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that often present with a difficult airway. The trachea is usually narrowed and flattened, making the choice of correct technique and endotracheal tube (ETT) size crucial ...
P. Tiwari, Nirav M Kotak, A. Shetty
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Cellular and Molecular Biology
Mucopolysaccharidosis type IV also known as Morquio syndrome is a rare autosomal recessive lysosomal storage disorder due to deficiency of either N-acetyl-galactosamine-6-sulfatase (type A) or deficiency of beta-galactosidase (type B) which results in ...
Azad A Haleem
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Mucopolysaccharidosis type IV also known as Morquio syndrome is a rare autosomal recessive lysosomal storage disorder due to deficiency of either N-acetyl-galactosamine-6-sulfatase (type A) or deficiency of beta-galactosidase (type B) which results in ...
Azad A Haleem
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Cervical myelopathy in mucopolysaccharidosis type IV.
Clinical neuropathology, 1999We describe our experience with 8 Italian patients having mucopolysaccharidosis type IV, diagnosed between 1 and 10 years of life, who presented odontoid hypoplasia causing cervical myelopathy. We discuss the possibility of cranio-cervical stabilization in order to reduce the neurological complications.
Rigante D. +3 more
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Mucopolysaccharidosis IV (Morquiös Disease) in a Twenty-months old Child
Australasian Radiology, 1971Summary A case of mucopolysaccharidosis IV (Morquio disease) with bone changes apparent at the age of seven months and the diagnosis established at the age of 20 months by radiographic, clinical and biochemical methods is described. The authors presume that every patient with bilateral congenital hip dislocation should be further investigated to ...
K, Kozlowski +2 more
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Medizinische Genetik, 1994
Mucopolysaccharidosis (MPS) type IV (Morquio's disease) is clinically, genetically and biochemically very heterogeneous. The current classification on type A and B with established enzymatic deficiency and type C with unknown enzymatic defect only partially disclose heterogeneity of the Morquio disease.
Barišić, Ingeborg +2 more
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Mucopolysaccharidosis (MPS) type IV (Morquio's disease) is clinically, genetically and biochemically very heterogeneous. The current classification on type A and B with established enzymatic deficiency and type C with unknown enzymatic defect only partially disclose heterogeneity of the Morquio disease.
Barišić, Ingeborg +2 more
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Pediatric Radiology, 1980
Cooley's anaemia has been observed in conjunction with, in one instance, Morquio's syndrome and, in a second instance, enchondromatosis. The clinical and radiological findings are described. The genetics of these associations are analyzed; their influence on prognosis for the individual child and for genetic counselling for the family are discussed.
M, Randaccio, R, Patrucco, C, Lanteri
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Cooley's anaemia has been observed in conjunction with, in one instance, Morquio's syndrome and, in a second instance, enchondromatosis. The clinical and radiological findings are described. The genetics of these associations are analyzed; their influence on prognosis for the individual child and for genetic counselling for the family are discussed.
M, Randaccio, R, Patrucco, C, Lanteri
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