Literature DB >> 7093180

Tapetoretinal degeneration in the cerebro-hepato-renal (Zellweger's) syndrome.

A Garner, A R Fielder, R Primavesi, A Stevens.   

Abstract

Electrophysiological and histopathological study of a baby suffering from Zellweger's syndrome and presenting progressive retinal dysfunction showed this to be related to degenerative changes in the photoreceptor cells and pigment epithelium and to defective myelination of the optic nerve. Disturbances of bile acid and lysine metabolism were also demonstrated, lending support to the concept that Zellweger's syndrome is attributable to a widespread inadequacy of intracellular oxidative function.

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Mesh：

Year:  1982        PMID： 7093180      PMCID： PMC1039816          DOI： 10.1136/bjo.66.7.422

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


  27 in total

1.  Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism.

Authors:  D M Danks; P Tippett; C Adams; P Campbell
Journal:  J Pediatr       Date:  1975-03       Impact factor: 4.406

2.  A syndrome of ocular abnormalities, calcification of cartilage, and failure to thrive.

Authors:  H H Punnett; J A Kirkpatrick
Journal:  J Pediatr       Date:  1968-10       Impact factor: 4.406

3.  Cerebro-hepato-renal syndrome of Zellweger. Two patients with islet cell hyperplasia, hypoglycemia, and thymic anomalies, and comments on iron metabolism.

Authors:  R G Patton; D L Christie; D W Smith; J B Beckwith
Journal:  Am J Dis Child       Date:  1972-12

4.  Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration.

Authors:  J J Volpe; R D Adams
Journal:  Acta Neuropathol       Date:  1972       Impact factor: 17.088

5.  Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly: A case study.

Authors:  P D Gatfield; E Taller; G G Hinton; A C Wallace; G M Abdelnour; M D Haust
Journal:  Can Med Assoc J       Date:  1968-12-28       Impact factor: 8.262

6.  The electroretinogram of the newborn infant.

Authors:  B Zetterström
Journal:  Int Ophthalmol Clin       Date:  1969

7.  Cerebro-hepato-renal syndrome of Zellweger.

Authors:  J E Jan; D F Hardwick; R B Lowry; A Q McCormick
Journal:  Am J Dis Child       Date:  1970-03

8.  Cerebro-hepato-renal syndrome. Report of a case with histochemical and ultrastructural observations.

Authors:  D P Agamanolis; H B Robinson; G D Timmons
Journal:  J Neuropathol Exp Neurol       Date:  1976-05       Impact factor: 3.685

9.  Zellweger syndrome. Lenticular opacities indicating carrier status and lens abnormalities characteristic of homozygotes.

Authors:  H M Hittner; F L Kretzer; R S Mehta
Journal:  Arch Ophthalmol       Date:  1981-11

10.  Globoid cells, glial nodules, and peculiar fibrillary changes in the cerebro-hepato-renal syndrome of Zellweger.

Authors:  G A de León; W D Grover; D S Huff; G Morinigo-Mestre; H H Punnett; M L Kistenmacher
Journal:  Ann Neurol       Date:  1977-12       Impact factor: 10.422
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  6 in total

1.  Congenital retinal dystrophies: a study of early cognitive and visual development.

Authors:  M M Black; P M Sonksen
Journal:  Arch Dis Child       Date:  1992-03       Impact factor: 3.791

Review 2.  The eye and inherited metabolic disease: a review.

Authors:  A Michalski; J V Leonard; D S Taylor
Journal:  J R Soc Med       Date:  1988-05       Impact factor: 5.344

Review 3.  Retinitis pigmentosa, pigmentary retinopathies, and neurologic diseases.

Authors:  M Tariq Bhatti
Journal:  Curr Neurol Neurosci Rep       Date:  2006-09       Impact factor: 5.081

Review 4.  Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review.

Authors:  Mousumi Bose; Christine Yergeau; Yasmin D'Souza; David D Cuthbertson; Melisa J Lopez; Alyssa K Smolen; Nancy E Braverman
Journal:  Cells       Date:  2022-06-10       Impact factor: 7.666

5.  A milder variant of Zellweger syndrome.

Authors:  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
Journal:  Eur J Pediatr       Date:  1985-11       Impact factor: 3.183

Review 6.  Dysfunctional peroxisomal lipid metabolisms and their ocular manifestations.

Authors:  Chuck T Chen; Zhuo Shao; Zhongjie Fu
Journal:  Front Cell Dev Biol       Date:  2022-09-07
  6 in total

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