Clinical Diagnosis, Biochemical Findings, Genetics and Incidence of Zellweger Syndrome
نویسندگان
چکیده
منابع مشابه
hyperimmunoglobulin e syndrome: genetics, immunopathogenesis, clinical findings, and treatment modalities
the hyperimmunoglobulin e syndromes (hiess) are very rare immunodeficiency syndromes with multisystem involvement, including immune system, skeleton, connective tissue, and dentition. hies are characterized by the classic triad of high serum levels of immunoglobulin e (ige), recurrent staphylococcal cold skin abscess, and recurrent pneumonia with pneumatocele formation. most cases of hies are s...
متن کاملHyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities
The hyperimmunoglobulin E syndromes (HIESs) are very rare immunodeficiency syndromes with multisystem involvement, including immune system, skeleton, connective tissue, and dentition. HIES are characterized by the classic triad of high serum levels of immunoglobulin E (IgE), recurrent staphylococcal cold skin abscess, and recurrent pneumonia with pneumatocele formation. Most cases of HIES are s...
متن کاملTrisomy 13 syndrome in Chinese infants. Clinical findings and incidence.
The trisomy 18 syndrome was first described in 1960 (Edwards et al., 1960). Since then, numerous cases have been reported in Caucasoid children from the United States, Canada, and Europe (Hecht et al., 1963; Townes, DeHart, and Ziegler, 1964; Zellweger, Huff, and Abbo, 1965; Taylor, 1967, 1968), but only a few cases have been reported in other racial groups. 8 African children with this syndrom...
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...
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ژورنال
عنوان ژورنال: Iranian Journal of Pediatrics
سال: 2017
ISSN: 2008-2142,2008-2150
DOI: 10.5812/ijp.58924