Feline Mucopolysaccharidosis VII Due to β-glucuronidase Deficiency
نویسندگان
چکیده
منابع مشابه
Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy.
A child is presented with mucopolysaccharidosis VII (beta-glucuronidase deficiency), bringing to six the number of reported patients with the infantile onset form of this disorder. This patient exhibited the following features, previously unrecognised as part of this syndrome: presentation in the neonatal period, progressive joint contractures, and hydrocephalus. This child's course and data fr...
متن کاملAnimal Model of Human Disease: Mucopolysaccharidosis Type VII (Sly Syndrome). Beta-Glucuronidase-Deficient Mucopolysaccharidosis in the Dog
Haskins, M. E., Aguirre, G. D., Jezyk, P. F., Schuchman, E. H., Desnick, R. J., & Patterson, D. F. (1983). Animal model of human disease: Mucopolysaccharidosis type VII (Sly syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog. American Journal of Pathology, 138(6), 1553–1555. PMCID: PMC1886403 Reproduced from Am J Pathol 1991, 138 (6): 1553–1555 with permission from the Ame...
متن کاملChemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII.
Enzyme replacement therapy has been used successfully in many lysosomal storage diseases. However, correction of brain storage has been limited by the inability of infused enzyme to cross the blood-brain barrier. The newborn mouse is an exception because recombinant enzyme is delivered to neonatal brain after mannose 6-phosphate receptor-mediated transcytosis. Access to this route is very limit...
متن کاملHaemorrhagic diathesis due to deficiency of factor VII.
Of recent years it has become apparent that Quick's one-stage prothrombin time, although a most useful routine laboratory test, does not specifically measure plasma prothrombin. Quick himself (1947) recognized that deficiency of his labile factor (Factor V) caused lengthening of the prothrombin time, and Owren (1947) reported the first case of congenital deficiency of Factor V causing a haemorr...
متن کاملPhenotypic expression in mucopolysaccharidosis VII.
beta-glucuronidase deficiency is an extremely rare disorder which is known to have a considerable phenotypic variation. A survey of the clinical findings in 19 previously reported patients with mucopolysaccharidosis VII is presented together with the results of clinical and biochemical studies in two further patients. Because a similar clinical picture is present in a heterozygotic sister it is...
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ژورنال
عنوان ژورنال: Veterinary Pathology
سال: 1994
ISSN: 0300-9858,1544-2217
DOI: 10.1177/030098589403100405