Zellweger syndrome: Diagnostic assays, syndrome delineation, and potential therapy
نویسندگان
چکیده
منابع مشابه
Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy.
Patients with the cerebrohepatorenal syndrome of Zellweger lack peroxisomes and certain peroxisomal enzymes such as dihydroxyacetone phosphate acyltransferase in their tissues. Deficiency of this enzyme, which is necessary for glycerol ether lipid synthesis, provides a biochemical method for recognizing patients with subtle manifestations of Zellweger syndrome and suggests the utility of exogen...
متن کاملMR of Zellweger syndrome.
PURPOSE To determine characteristic MR imaging features of Zellweger syndrome. METHODS Clinical records, laboratory records, and MR studies of six patients with Zellweger syndrome were reviewed retrospectively. MR studies were examined for the state of myelination; the presence, extent, and morphologic appearance of cerebral cortical anomalies; the status of the cerebellar cortex, basal nucle...
متن کاملZellweger syndrome (cerebro-hepato-renal syndrome).
A syndrome with distinctive clinical features affecting brain, liver and kidneys was described by Bowen et al in 1964 1 and Smith et al. in 1965 2 . In 1973 Goldfisher et al 3 has reported that peroxisomes were absent in the liver and kidneys of affected children. More recently lack of dihydroxyacetone phosphate acyletransferase (DHAP-AT) a peroxisomal enzyme with a major role in glycerol ether...
متن کاملRadial Tunnel Syndrome, Diagnostic and Treatment Dilemma
Radial tunnel syndrome is a disease which we should consider it in elbow and forearm pains. It is diagnosed with lateral elbow and dorsal forearm pain may radiate to the wrist and dorsum of the fingers. The disease is more prevalent in women with the age of 30 to 50 years old. It occurs by intermittent compression on the radial nerve from the radial head to the inferior border of the supinator ...
متن کاملBand heterotopia in Zellweger syndrome (cerebro-hepato-renal syndrome).
Zellweger syndrome (cerebro-hepato-renal syndrome) is associated with generalized hypotonia, high forehead with flattened facies, hepatomegaly and talipes equinovarus. This pattern of malformations was first recognized in 1964 by Bowen and Smith. Zellweger syndrome is an autosomal recessive genetic disorder that is associated with multiple biochemical markers of peroxisomal dysfunction. A full ...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 1986
ISSN: 0148-7299,1096-8628
DOI: 10.1002/ajmg.1320240109