Skip to main content
PMC home page
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1988 Jul;63(7):767–770. doi: 10.1136/adc.63.7.767

Inherited peroxisomal disorders involving the nervous system.

J B Stephenson 1
PMCID: PMC1779067  PMID: 3046503

Full text

PDF
770

Images in this article

769Figure
on p.769

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aubourg P. R., Sack G. H., Jr, Moser H. W. Frequent alterations of visual pigment genes in adrenoleukodystrophy. Am J Hum Genet. 1988 Mar;42(3):408–413. [PMC free article] [PubMed] [Google Scholar]
  2. Aubourg P., Scotto J., Rocchiccioli F., Feldmann-Pautrat D., Robain O. Neonatal adrenoleukodystrophy. J Neurol Neurosurg Psychiatry. 1986 Jan;49(1):77–86. doi: 10.1136/jnnp.49.1.77. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Barth P. G., Schutgens R. B., Bakkeren J. A., Dingemans K. P., Heymans H. S., Douwes A. C., van der Klei-van Moorsel J. M. A milder variant of Zellweger syndrome. Eur J Pediatr. 1985 Nov;144(4):338–342. doi: 10.1007/BF00441774. [DOI] [PubMed] [Google Scholar]
  4. Bleeker-Wagemakers E. M., Oorthuys J. W., Wanders R. J., Schutgens R. B. Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome. Clin Genet. 1986 Feb;29(2):160–164. doi: 10.1111/j.1399-0004.1986.tb01242.x. [DOI] [PubMed] [Google Scholar]
  5. Budden S. S., Kennaway N. G., Buist N. R., Poulos A., Weleber R. G. Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children. J Pediatr. 1986 Jan;108(1):33–39. doi: 10.1016/s0022-3476(86)80765-x. [DOI] [PubMed] [Google Scholar]
  6. Clayton P. T., Lake B. D., Hall N. A., Shortland D. B., Carruthers R. A., Lawson A. M. Plasma bile acids in patients with peroxisomal dysfunction syndromes: analysis by capillary gas chromatography-mass spectrometry. Eur J Pediatr. 1987 Mar;146(2):166–173. doi: 10.1007/BF02343226. [DOI] [PubMed] [Google Scholar]
  7. Ek J., Kase B. F., Reith A., Björkhem I., Pedersen J. I. Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome. J Pediatr. 1986 Jan;108(1):19–24. doi: 10.1016/s0022-3476(86)80763-6. [DOI] [PubMed] [Google Scholar]
  8. Goldfischer S., Collins J., Rapin I., Neumann P., Neglia W., Spiro A. J., Ishii T., Roels F., Vamecq J., Van Hoof F. Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities. J Pediatr. 1986 Jan;108(1):25–32. doi: 10.1016/s0022-3476(86)80764-8. [DOI] [PubMed] [Google Scholar]
  9. Kelley R. I., Datta N. S., Dobyns W. B., Hajra A. K., Moser A. B., Noetzel M. J., Zackai E. H., Moser H. W. Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet. 1986 Apr;23(4):869–901. doi: 10.1002/ajmg.1320230404. [DOI] [PubMed] [Google Scholar]
  10. Lawson A. M., Madigan M. J., Shortland D., Clayton P. T. Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts. Clin Chim Acta. 1986 Dec 15;161(2):221–231. doi: 10.1016/0009-8981(86)90215-9. [DOI] [PubMed] [Google Scholar]
  11. Poll-The B. T., Roels F., Ogier H., Scotto J., Vamecq J., Schutgens R. B., Wanders R. J., van Roermund C. W., van Wijland M. J., Schram A. W. A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am J Hum Genet. 1988 Mar;42(3):422–434. [PMC free article] [PubMed] [Google Scholar]
  12. Poll-The B. T., Saudubray J. M., Ogier H. A., Odièvre M., Scotto J. M., Monnens L., Govaerts L. C., Roels F., Cornelis A., Schutgens R. B. Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. Eur J Pediatr. 1987 Sep;146(5):477–483. doi: 10.1007/BF00441598. [DOI] [PubMed] [Google Scholar]
  13. Robertson E. F., Poulos A., Sharp P., Manson J., Wise G., Jaunzems A., Carter R. Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years. Eur J Pediatr. 1988 Feb;147(2):133–142. doi: 10.1007/BF00442210. [DOI] [PubMed] [Google Scholar]
  14. Schram A. W., Goldfischer S., van Roermund C. W., Brouwer-Kelder E. M., Collins J., Hashimoto T., Heymans H. S., van den Bosch H., Schutgens R. B., Tager J. M. Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. Proc Natl Acad Sci U S A. 1987 Apr;84(8):2494–2496. doi: 10.1073/pnas.84.8.2494. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Vamecq J., Draye J. P., Van Hoof F., Misson J. P., Evrard P., Verellen G., Eyssen H. J., Van Eldere J., Schutgens R. B., Wanders R. J. Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy. Am J Pathol. 1986 Dec;125(3):524–535. [PMC free article] [PubMed] [Google Scholar]
  16. Wanders R. J., Smit W., Heymans H. S., Schutgens R. B., Barth P. G., Schierbeek H., Smit G. P., Berger R., Przyrembel H., Eggelte T. A. Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome. Clin Chim Acta. 1987 Jun 30;166(1):45–56. doi: 10.1016/0009-8981(87)90193-8. [DOI] [PubMed] [Google Scholar]
  17. Wolff J., Nyhan W. L., Powell H., Takahashi D., Hutzler J., Hajra A. K., Datta N. S., Singh I., Moser H. W. Myopathy in an infant with a fatal peroxisomal disorder. Pediatr Neurol. 1986 May-Jun;2(3):141–146. doi: 10.1016/0887-8994(86)90004-4. [DOI] [PubMed] [Google Scholar]
  18. Zellweger H. The cerebro-hepato-renal (Zellweger) syndrome and other peroxisomal disorders. Dev Med Child Neurol. 1987 Dec;29(6):821–829. doi: 10.1111/j.1469-8749.1987.tb08833.x. [DOI] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES