Late-onset generalized disorder of peroxisomes

Neurology

Volumn 46, Issue 3, 1996, Pages 829-831

  Burdette, D E ^a,b,e   Kremser, K ^c   Fink, J K ^b   Pahan, K ^c   Stanley, W ^d   Singh, I ^c  

^a WRIGHT PATTERSON AIR FORCE BASE   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^d GENETICS AND IVF INSTITUTE   (United States)

^e HENRY FORD HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CATALASE; DIHYDROXYACETONE PHOSPHATE ACYLTRANSFERASE; LIGNOCERIC ACID; PHYTANIC ACID; VERY LONG CHAIN FATTY ACID;

ADRENOLEUKODYSTROPHY; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISORDERS OF PEROXISOMAL FUNCTIONS; ENZYME DEFICIENCY; FACE DYSMORPHIA; FATTY ACID OXIDATION; FIBROBLAST; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RETINA DEGENERATION; SEIZURE; ZELLWEGER SYNDROME;

EID: 0029892178     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.46.3.829     Document Type: Article

References (10)

1. Brown FR, Voigt R, Singh AK, Singh I. Peroxisomal disorders: neurodevelopmental and biochemical aspects. Am J Dis Child 1993; 147:617-626.
2. Moser HW, Moser AB, Frayer KK, et al. Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. Neurology 1981; 31:1241-1249.
3. Lazo O, Contreras M, Hashmi M, Stanley W, Irazu C, Singh I. Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy. Proc Natl Acad Sci USA 1988; 85:7647-7651.
4. Aubourg P, Kremser K, Roland MO, Rocchiccioli F, Singh I. Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids. Pediatr Res 1993; 34:270-276.
5. Wanders RJA, Kos M, Roest B, et al. Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome. Biochem Biophys Res Commun 1984; 123: 1054-1061.
6. Moser HW. Peroxisomal diseases. Adv Human Genet 1993; 21:1-106.
7. Moser AB, Singh I, Brown FR III, et al. The cerebrohepatorenal (Zellweger) syndrome: increased levels and impaired degradation of very long chain fatty acids, and prenatal diagnosis. N Engl J Med 1984; 310:1141-1145.
8. Barth PG, Schutgens RBH, Wanders RJA, et al. A sibship with a mild variant of Zellweger syndrome. J Inherit Metab Dis 1987; 10:253-259.
9. Poll-The BT, Saudubray JM, Ogier HAM, et al. Infantile Refsum disease: an inherited peroxisomal disorder, comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. Eur J Pediatr 1987; 146:477-483.
10. Kelley RI, Datta NS, Dobyns WB, et al. Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet 1986; 23:869-901.