Mannosidosis in Galloway Calves
نویسندگان
چکیده
منابع مشابه
Alpha-mannosidosis
Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately 1 of 500,000 live births. The children are often born apparently normal, and their condition worsens progressively. Some children are born with ankle equinus or develop hydrocephalus in th...
متن کاملPsychiatric symptoms in alpha-mannosidosis.
Alpha-mannosidosis is characterized by mild to moderate intellectual disability (ID), moderate to severe neurosensory hearing loss, frequent infections, psychomotor disturbances and skeletal dysmorphism. For the first time, a panel of nine alpha-mannosidosis patients with psychiatric symptoms is presented. The clinical picture has several similarities: a physical or psychological stressor prece...
متن کاملGalloway-Mowat syndrome.
Galloway-Mowat syndrome is a rare multisystem genetic disorder with constellation of neurological, skeletal, growth, facial, gastrointestinal and renal abnormalities. This case report describes Galloway-Mowat syndrome in a young boy suffering from congenital microcephaly, developmental delay, seizures and various dysmorphic features in whom nephrotic syndrome became apparent at 5 years of age.
متن کاملNeurology of adult alpha - mannosidosis .
The pathogenesis of the cauda equina syndrome of ankylosing spondylitis is unknown. The long duration between the onset of ankylosing spondylitis and neurological symptoms (average 35 years in the Mayo Clinic series') argues against a shared inflammatory cause, as does the relative normality of CSF.' 2 Matthews suggested that arterial pulsations transmitted to the CSF might produce not only the...
متن کاملLysosomal alpha-mannosidase and alpha-mannosidosis.
Lysosomal alpha-mannosidase with acidic pH optimum is ubiquitous in human tissues where is expressed in two major forms, A and B that are the product of a single gene located on chromosome 19. Mutations in the gene encoding for alpha-mannosidase cause alpha- mannosidosis, an autosomal recessive disease, resulting in the accumulation of unprocessed mannose containing oligosaccharide material. Th...
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ژورنال
عنوان ژورنال: Veterinary Pathology
سال: 1985
ISSN: 0300-9858,1544-2217
DOI: 10.1177/030098588502200607