Results 141 to 150 of about 1,141,621 (185)

RECOGNITION OF ZELLWEGER SYNDROME IN INFANCY

Advances in Neonatal Care, 2005
At least 29 proteins are required for assembly of the peroxisome, a single-membrane organelle responsible for many metabolic processes. A defect in any of these proteins affects the numerous biochemical functions of the cell. Many genetic disorders are associated with peroxisome defects.
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The Cerebro-Hepato-Renal Syndrome (Zellweger’s Syndrome)

Biology of the Neonate, 2009
Four 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-like Syndrome

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 Cerebrohepatorenal Syndrome

1989
The 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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Pseudo-Zellweger Syndrome

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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PRENATAL DETECTION OF ZELLWEGER SYNDROME

The Lancet, 1984
Schutgens, R. B., Heymans, H. S., Wanders, R. J., vd Bosch, H., Schrakamp, G.   +4 more
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Zellweger Syndrome

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2018
A, Hedjoudje, S, Torre, S, Bekri, A-M, Guerrot, V, Ickowicz, J-N, Dacher, P-H, Vivier   +6 more
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MR of Zellweger syndrome.

AJNR. American journal of neuroradiology, 1997
To determine characteristic MR imaging features of Zellweger syndrome.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 ...
A J, Barkovich, W W, Peck
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Ultrastructure of the Liver in the Cerebrohepatorenal Syndrome of Zellweger

Ultrastructural Pathology, 1983
Peter G Barth, P G Barth, Hugo S A Heymans   +2 more
exaly  

Zellweger Syndrome

2016
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