Results 161 to 170 of about 8,302 (215)
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PRENATAL DETECTION OF ZELLWEGER SYNDROME
The Lancet, 1984Schutgens, R. B. +4 more
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Liver Transplantation for Zellweger Syndrome
Indian Journal of Pediatrics, 2023Zellweger syndrome or cerebrohepatorenal syndrome is a rare, multisystem disorder occurring due to defect in metabolic pathway within the peroxisomes. Cirrhosis with portal hypertension is an important presentation of these patients. Given its progressive, multisystem nature, the role of liver transplantation (LT) in Zellweger syndrome remains ...
Jagadeesh, Menon +4 more
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MRI findings of Zellweger syndrome
Pediatric Neurology, 1995A patient with Zellweger syndrome, who manifested marked dilatation of the lateral ventricles, observed at 34 weeks gestation by fetal ultrasonography, is reported. Postnatal magnetic resonance imaging revealed marked colpocephaly and hypogenesis of the posterior part of the corpus callosum.
A, Nakai +4 more
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The Cerebro-Hepato-Renal Syndrome (Zellweger’s Syndrome)
Neonatology, 1974Four infants with the clinical and pathological findings of the cerebro-hepato-renal syndrome of Zellweger are reported. They were the children of two sets of parents who were healthy and unrelated. In each family the occurrence of one affected sibling of each sex adds further evidence to the autosomal recessive nature of this disorder.
A, Sommer, E J, Bradel, A B, Hamoudi
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Zellweger Cerebrohepatorenal Syndrome
1989The cerebrohepatorenal syndrome (CHRS), also called Zellweger syndrome, is a fatal autosomal recessive disorder. After birth the affected children show profound muscular hypotonia or even atonia. Most patients lie motionless with weak or absent Moro reflex, tendon reflexes and sucking and swallowing reflexes. Typically, the children’s faces have a high
Jacob Valk, Marjo S. van der Knaap
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1995
Zellweger-like syndrome (ZLS) is a very rare disorder which has only been described in a few patients. The clinical and biochemical findings are typical of Zellweger syndrome. The children show profound hypotonia and severe epileptic convulsions from birth onwards.
Marjo S. van der Knaap, Jacob Valk
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Zellweger-like syndrome (ZLS) is a very rare disorder which has only been described in a few patients. The clinical and biochemical findings are typical of Zellweger syndrome. The children show profound hypotonia and severe epileptic convulsions from birth onwards.
Marjo S. van der Knaap, Jacob Valk
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Subependymal germinolytic cysts in Zellweger syndrome
Pediatric Radiology, 1995Ultrasonographic demonstration of periventricular cysts is usually associated with cystic periventricular leucomalacia due to necrosis of periventricular unmyelinated white matter. Cystic spaces with a similar appearance may also arise from prenatal lysis of fetal periventricular matrix tissue, rather than immature white matter.
Russel, I. M. +3 more
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1989
A disorder has been described with clinical, chemical, and pathological features remarkably similar to those of the Zellweger’s cerebrohepatorenal syndrome. However, in the Zellweger syndrome, peroxisomes cannot be detected in hepatocytes and renal tubular epithelium, using cytochemistry or ultrastructural examination, whereas in the pseudo-Zellweger ...
Jacob Valk, Marjo S. van der Knaap
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A disorder has been described with clinical, chemical, and pathological features remarkably similar to those of the Zellweger’s cerebrohepatorenal syndrome. However, in the Zellweger syndrome, peroxisomes cannot be detected in hepatocytes and renal tubular epithelium, using cytochemistry or ultrastructural examination, whereas in the pseudo-Zellweger ...
Jacob Valk, Marjo S. van der Knaap
openaire +1 more source