Results 131 to 140 of about 1,141,621 (185)

A mouse model for Zellweger syndrome

Nature Genetics, 1997
The cerebro-hepato-renal syndrome of Zellweger is a fatal inherited disease caused by deficient import of peroxisomal matrix proteins. The pathogenic mechanisms leading to extreme hypotonia, severe mental retardation and early death are unknown. We generated a Zellweger animal model through inactivation of the murine Pxr1 gene (formally known as Pex5 ...
Baes, M, Gressens, P, Baumgart, E, Carmeliet, P, Casteels, M, Fransen, M, Evrard, P, Fahimi, D, Declercq, P E, Collen, D, van Veldhoven, P P, Mannaerts, G P   +11 more
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Revisiting the neuropathogenesis of Zellweger syndrome

Neurochemistry International, 2014
Zellweger syndrome (ZS) is a neonatal-lethal genetic disease that affects all tissues, and features neuropathology that involves primary developmental defects as well as neurodegeneration. Neuropathological changes include abnormal neuronal migration affecting the cerebral hemispheres, cerebellum and inferior olivary complex, abnormal Purkinje cell ...
Denis Crane
exaly   +4 more sources

Zellweger syndrome and secondary mitochondrial myopathy

European Journal of Pediatrics, 2014
Defects in peroxisomes such as those associated with Zellweger syndrome (ZS) can influence diverse intracellular metabolic pathways, including mitochondrial functioning. We report on an 8-month-old female infant and a 6-month-old female infant with typical clinical, radiological and laboratory features of Zellweger syndrome; light microscopic and ...
Salpietro V., Phadke R., Saggar A., Hargreaves I. P., Yates R., Fokoloros C., Mankad K., Hertecant J., Ruggieri M., McCormick D., Kinali M.   +10 more
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Zellweger Syndrome

, 2022
Our project will be informing the public about Zellweger Syndrome. We will talk about the disorder, how it\u27s Cause, and how people are affected.
Elena Pavlidis, Andreea M. Pavel, Geraldine B. Boylan   +2 more
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Zellweger syndrome: Diagnostic assays, syndrome delineation, and potential therapy [PDF]

American Journal of Medical Genetics Part A, 1986
Patients with the cerebrohepatorenal syndrome of Zellweger lack peroxisomes and certain peroxisomal enzymes such as dihydroxyacetone phosphate acyltransferase in their tissues.
G N Wilson
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Liver Transplantation for Zellweger Syndrome

Indian Journal of Pediatrics, 2023
Zellweger 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, Naresh, Shanmugam, Mukul, Vij, Ashwin, Rammohan, Mohamed, Rela   +4 more
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MRI findings of Zellweger syndrome

Pediatric Neurology, 1995
A 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, Y, Shigematsu, K, Nishida, Y, Kikawa, Y, Konishi   +4 more
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A milder variant of Zellweger syndrome

European Journal of Pediatrics, 1985
A 4.5-year-old male patient is described with chorioretinopathy, minor facial anomalies, delayed closure of the fontanel, mental retardation, moderate hypotonia, epilepsy and hepatic fibrosis. Postural control, intentional vocalising and manual dexterity were superior to the performance of patients with classical Zellweger syndrome (ZS ...
P G, Barth, R B, Schutgens, J A, Bakkeren, K P, Dingemans, H S, Heymans, A C, Douwes, J M, van der Klei-van Moorsel   +6 more
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