Biochemical and clinical profiles of 52 Tunisian patients affected by Zellweger syndrome
نویسندگان
چکیده
منابع مشابه
MR 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...
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BACKGROUND The metabolic syndrome is a growing global public health problem which is frequently associated with psychiatric illness. OBJECTIVES To evaluate the prevalence of metabolic syndrome and to study its profile in Tunisian bipolar I patients. METHODS Our study included 130 patients with bipolar I disorder diagnosed according to the DSM-IV and assessed for metabolic syndrome according...
متن کاملClinical and genetic characterization of Italian patients affected by CINCA syndrome.
OBJECTIVE We report the experience of the Italian Registry of patients affected by chronic infantile neurological, cutaneous, articular (CINCA) syndrome. The clinical and genetic features of 12 unrelated Italian patients with CINCA syndrome are described, focusing on the possible influence of the presence of CIAS1/cryopyrin mutations on the phenotype of the disease and on its prognosis. METHO...
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...
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ژورنال
عنوان ژورنال: Pediatrics & Neonatology
سال: 2017
ISSN: 1875-9572
DOI: 10.1016/j.pedneo.2016.08.011