Results 171 to 180 of about 4,093 (193)

International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease

Journal of Inherited Metabolic Disease, 2007
SummaryMucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is a lysosomal storage disorder caused by deficiency of N‐acetylgalactosamine‐6‐sulfate sulfatase. The natural history of this disease is incompletely understood. To study which variables influence the clinical outcome, we conducted a study in which MPS IVA patients were asked to fill out a ...
A M, Montaño, S, Tomatsu, G S, Gottesman, M, Smith, T, Orii   +4 more
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A RARE OSSEOUS DYSTROPHY (MORQUIO)

Archives of Pediatrics and Adolescent Medicine, 1932
The excuse for reporting a single case lies, in this instance, in the twofold fact that it is unique in our experience, and that we have been able to find but one other apparently identical case in the literature. For about eight years, or since he was 10 months old, a boy with a striking general deformity of the body has been in and out of our clinic
H. F. MEYER, J. BRENNEMANN
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 ...
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Fetal presentation of morquio disease type A

Prenatal Diagnosis, 1992
AbstractA fetus with mucopolysaccharidosis type IV A (Morquio type A) is described. The family had one affected child exhibiting symptoms of classical Morquio A disease, and late in the subsequent pregnancy prenatal diagnosis was requested. At 23 weeks' gestation, moderate ascites was detected by detailed ultrasound scan and keratan sulphate was found ...
M, Beck, S, Braun, W, Coerdt, E, Merz, E, Young, A C, Sewell   +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

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
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First-trimester diagnosis of Morquio disease type A

Prenatal Diagnosis, 2000
Since the introduction in 1990 of a novel fluorogenic substrate for galactose-6-sulphate sulphatase we have used this substrate for prospective prenatal diagnosis in 10 pregnancies at risk for Morquio disease type A. Chorionic villi were analysed in five cases.
Kleijer, W, Geilen, GG, Garritsen, V, Huijmans, Jan, Los, FJ, Voznyi, YV, Diggelen, Otto   +6 more
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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
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[Natural history of Morquio A disease].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2015
Type IV mucopolysaccharidosis (Morquio A syndrome; MPS IVA; OMIM 253000), is a multisystemic, severe and very disabling disease, also life-threatening; MPS IVA is due to a deficiency of the enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), a lysosomal enzyme responsible for the degradation of keratan sulfate (KS) and chondroitin-6-sulfate (C6S).
G, Baujat, V, Valayannopoulos
openaire   +1 more source

Morquio’s disease

The Indian Journal of Pediatrics, 1965
S D, SINGH, S, HUSSAIN
openaire   +2 more sources