Results 191 to 200 of about 21,517,347 (239)
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The Journal of Pediatrics, 1955
Summary Morquio's disease is a condition easily diagnosed when a kyphoscoliosis of the cervical or lumbar spine is associated with changes of the pelvis and long bones. There is difficulty in recognizing atypical types as evidenced by the variance of opinion in the cases presented.
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Summary Morquio's disease is a condition easily diagnosed when a kyphoscoliosis of the cervical or lumbar spine is associated with changes of the pelvis and long bones. There is difficulty in recognizing atypical types as evidenced by the variance of opinion in the cases presented.
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Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome)
American Journal of Medical Genetics. Part A, 2020Mucopolysaccharidosis 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
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Molecular Genetics and Metabolism, 2015 Objectives: Baseline data from the Morquio A Clinical Assessment Program (MorCAP) revealed that individuals with Morquio A syndrome show substantial impairment in multiple domains including endurance and respiratory function (Harmatz et al., Mol Genet ...
Paul R Harmatz +2 more
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Pediatrics, 1964
The radiologic and morphologic changes seen in a patient with Morquio's disease who came to autopsy are described and discussed. Pathologic changes were limited to cartilage and consisted of cytochemically definable lesions of the matrix characterized by the presence of amorphous and fibrillar lesions and the accumulation of foam cells.
Eric A. Schenk, James Haggerty
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The radiologic and morphologic changes seen in a patient with Morquio's disease who came to autopsy are described and discussed. Pathologic changes were limited to cartilage and consisted of cytochemically definable lesions of the matrix characterized by the presence of amorphous and fibrillar lesions and the accumulation of foam cells.
Eric A. Schenk, James Haggerty
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Natural History of Morquio A Syndrome.
Journal of Inherited Metabolic DiseaseMucopolysaccharidosis IVA (Morquio A) is a progressive lysosomal disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in the accumulation of glycosaminoglycans, primarily in cartilage and bone.
Shunji Tomatsu +19 more
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Journal of the American Medical Association, 1934
In 1929, Morquio1of Montevideo reported a peculiar form of familial osseous dystrophy, occurring in four children of five in the same family. He was unable to find similar cases in the literature available to him. Morquio stated that the children were apparently healthy and had developed normally during the first year.
DAVID B. DAVIS, FRED P. CURRIER
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In 1929, Morquio1of Montevideo reported a peculiar form of familial osseous dystrophy, occurring in four children of five in the same family. He was unable to find similar cases in the literature available to him. Morquio stated that the children were apparently healthy and had developed normally during the first year.
DAVID B. DAVIS, FRED P. CURRIER
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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 +4 more
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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 +4 more
semanticscholar +1 more source
Bioanalysis, 2018
AIM Since 2014, enzyme replacement therapy (ERT) has been available for treatment of Morquio A syndrome. During clinical trials, urinary keratan sulfate (KS) has been a useful biomarker and showed a marked decrease in patients on ERT, demonstrating ...
C. Auray-Blais +2 more
semanticscholar +1 more source
AIM Since 2014, enzyme replacement therapy (ERT) has been available for treatment of Morquio A syndrome. During clinical trials, urinary keratan sulfate (KS) has been a useful biomarker and showed a marked decrease in patients on ERT, demonstrating ...
C. Auray-Blais +2 more
semanticscholar +1 more source
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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Morquio Syndrome and Anesthesia
Anesthesiology, 1979A E, Jones, T F, Croley
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