Cerebro-Hepato-Renal (Zellweger) Syndrome
Pediatric Neurology Briefs, 1987 Selective neuronal lipidosis and neuroaxonal dystrophy of the dorsal nucleus of Clarke and lateral cuneate nucleus were the neuropathological findings in 3 males with Zellweger syndrome examined at the Medical Unit S Carolina, Charleston, SC, the John F.
J Gordon Millichap
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Zellweger syndrome: Depiction of MRI findings in early infancy at 3.0 Tesla [PDF]
Neuroradiology Journal, 2017 Zellweger syndrome, also referred to as cerebrohepatorenal syndrome, is a rare autosomal recessive disease representing the most severe form of the peroxisomal biogenesis disorders.
Cory Pfeifer
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Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study [PDF]
BMC Medical GenomicsPeroxisomal disorders are a group of hereditary metabolic disorders that happen when peroxisomes are defective. Around 80% of individuals affected by peroxisomal disorders are classified within the spectrum of Zellweger syndromes with autosomal recessive
Sheyda Khalilian +6 more
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Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome [PDF]
EMBO Journal, 2020 Shinya Matsuura +2 more
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Christoph Zellweger 1990 -1999 [PDF]
, 1999 The artists first personal catalog presented images of three main bodies of work made between 1990 and 1999. Introductory text: ROWE; Michael (1999); Interview: CASTRO-CALDAS; Manuel (1999).
Zellweger, Christoph
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Identification of a new frameshift homozygous variant of PEX3 gene in a preterm infant with profound global developmental delay and bilateral ptosis: a case report and updated literature review [PDF]
BMC PediatricsBackground Loss-of-function mutations in PEX3 have been associated with Zellweger syndrome (ZS), a severe form of peroxisome biogenesis disorder (PBD) characterized by significant global developmental delay, muscle weakness with bilateral ptosis ...
Jinfeng Su +3 more
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Pathophysiological significance of cholesterol in ciliopathies [PDF]
Fujita Medical JournalPrimary cilia are sensory organelles essential for cellular signaling, the dysfunction of which causes ciliopathies, characterized by polycystic kidney disease, retinopathy, and developmental anomalies.
Takeshi Itabashi +7 more
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Prenatal Diagnosis of Zellweger Syndrome: Case Report
Gynecology Obstetrics & Reproductive Medicine, 2013 Zellweger syndrome (ZS) (Cerebro-Hepato-Renal syndrome) is a rare autosomal recessive disorder characterized by an absence or marked decrease in peroxisomes, resulting in profound muscular hypotonia and death in the neonatal period.
Bilgin Kütükcü +3 more
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Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes. [PDF]
PLoS ONE, 2011 The peroxisome biogenesis disorders (PBDs) are currently difficult-to-treat multiple-organ dysfunction disorders that result from the defective biogenesis of peroxisomes. Genes encoding Peroxins, which are required for peroxisome biogenesis or functions,
Minoru Nakayama +9 more
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Perioperative care of a child with Zellweger syndrome. [PDF]
Pediatric Anesthesia and Critical Care Journal (PACCJ), 2022 Zellweger syndrome (ZS) is an autosomal recessive dis- order characterized by defects in the structure, function, or number of peroxisomes, which are essential for the β- oxidation of very-long-chain fatty acids. Disordered pe- roxisome function leads to
A. Gibbs, J. D. Tobias
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