Wanders RJ. Peroxisomes, lipid metabolism, and human disease. Cell Biochem Biophys. 2000. 32 Spring:89-106. [QxMD MEDLINE Link].
Wanders RJ, Ferdinandusse S, Brites P, Kemp S. Peroxisomes, lipid metabolism and lipotoxicity. Biochim Biophys Acta. 2010 Mar. 1801(3):272-80. [QxMD MEDLINE Link].
Baumgartner MR, Poll-The BT, Verhoeven NM, et al. Clinical approach to inherited peroxisomal disorders: a series of 27 patients. Ann Neurol. 1998 Nov. 44(5):720-30. [QxMD MEDLINE Link].
Bowen P, Lee CS, Zellweger H, Lindenberg R. A Familial Syndrome of Multiple Congenital Defects. Bull Johns Hopkins Hosp. 1964 Jun. 114:402-14. [QxMD MEDLINE Link].
Kemp S, Wanders RJ. X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment. Mol Genet Metab. 2007 Mar. 90(3):268-76. [QxMD MEDLINE Link].
Semmler A, Bao X, Cao G, Köhler W, Weller M, Aubourg P, et al. Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample. J Neurol. 2009 Aug. 256(8):1277-80. [QxMD MEDLINE Link].
Kaga M, Furushima W, Inagaki M, Nakamura M. Early neuropsychological signs of childhood adrenoleukodystrophy (ALD). Brain Dev. 2009 Aug. 31(7):558-61. [QxMD MEDLINE Link].
Hubbard WC, Moser AB, Liu AC, Jones RO, Steinberg SJ, Lorey F, et al. Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab. 2009 Jul. 97(3):212-20. [QxMD MEDLINE Link].
U.S. Food and Drug Administration (press release). FDA approves Cholbam to treat rare bile acid synthesis disorders. Available at https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm438572.htm. Accessed: 2015 Mar 24.
Cholbam (cholic acid) [package insert]. Baltimore, MD: Asklepion Pharmaceuticals LLC. 2015 Mar. Available at [Full Text].
Zolotov D, Wagner S, Kalb K, et al. Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis. J Clin Apher. 2012. 27(2):99-105. [QxMD MEDLINE Link].
Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, et al. Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy. N Engl J Med. 2017 Oct 26. 377 (17):1630-1638. [QxMD MEDLINE Link]. [Full Text].
Cartier N, Hacein-Bey-Abina S, Bartholomae CC, Veres G, Schmidt M, Kutschera I, et al. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science. 2009 Nov 6. 326(5954):818-23. [QxMD MEDLINE Link].
Boelens JJ, Prasad VK, Tolar J, Wynn RF, Peters C. Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders. Pediatr Clin North Am. 2010 Feb. 57(1):123-45. [QxMD MEDLINE Link].
Martinez M, Pineda M, Vidal R, et al. Docosahexaenoic acid--a new therapeutic approach to peroxisomal-disorder patients: experience with two cases. Neurology. 1993 Jul. 43(7):1389-97. [QxMD MEDLINE Link].
Noguer MT, Martinez M. Visual Follow-Up In Peroxisomal-Disorder Patients Treated With Docosahexaenoic Acid Ethyl Ester. Invest Ophthalmol Vis Sci. 2009 Nov 20. [QxMD MEDLINE Link].
Engelen M, Tran L, Ofman R, Brennecke J, Moser AB, Dijkstra IM. Bezafibrate for x-linked adrenoleukodystrophy. PLoS One. 2012. 7(7):e41013. [QxMD MEDLINE Link].
al-Essa M, Dhaunsi GS, Rashed M, et al. Zellweger syndrome in Saudi Arabia and its distinct features. Clin Pediatr (Phila). 1999 Feb. 38(2):77-86. [QxMD MEDLINE Link].
Aubourg P, Blanche S, Jambaque I, et al. Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. N Engl J Med. 1990 Jun 28. 322(26):1860-6. [QxMD MEDLINE Link].
Baes M, Gressens P, Baumgart E, et al. A mouse model for Zellweger syndrome. Nat Genet. 1997 Sep. 17(1):49-57. [QxMD MEDLINE Link].
Barker PB, Horska A. Neuroimaging in leukodystrophies. J Child Neurol. 2004 Aug. 19(8):559-70. [QxMD MEDLINE Link].
Barth PG, Majoie CB, Gootjes J, et al. Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival. Neurology. 2004 Feb 10. 62(3):439-44. [QxMD MEDLINE Link].
Braverman N, Steel G, Obie C, et al. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet. 1997 Apr. 15(4):369-76. [QxMD MEDLINE Link].
Breitling R. Pathogenesis of peroxisomal deficiency disorders (Zellweger syndrome) may be mediated by misregulation of the GABAergic system via the diazepam binding inhibitor. BMC Pediatr. 2004 Mar 12. 4:5. [QxMD MEDLINE Link].
Dimmick JE, Applegarth DA. Pathology of peroxisomal disorders. Perspect Pediatr Pathol. 1993. 17:45-98. [QxMD MEDLINE Link].
Edwin D, Speedie LJ, Kohler W, et al. Cognitive and brain magnetic resonance imaging findings in adrenomyeloneuropathy. Ann Neurol. 1996 Oct. 40(4):675-8. [QxMD MEDLINE Link].
Esiri MM, Hyman NM, Horton WL, Lindenbaum RH. Adrenoleukodystrophy: clinical, pathological and biochemical findings in two brothers with the onset of cerebral disease in adult life. Neuropathol Appl Neurobiol. 1984 Nov-Dec. 10(6):429-45. [QxMD MEDLINE Link].
Ferri R, Chance PF. Lorenzo's oil: advances in the treatment of neurometabolic disorders. Arch Neurol. 2005 Jul. 62(7):1045-6. [QxMD MEDLINE Link].
Gartner J, Braun A, Holzinger A , et al. Clinical and genetic aspects of X-linked adrenoleukodystrophy. Neuropediatrics. 1998 Feb. 29(1):3-13. [QxMD MEDLINE Link].
Gilles L, Adams R, Kolony E. The neurology of neonatal hereditary metabolic diseases. In: Neurology of Hereditary Metabolic Diseases of Children. New York, NY: McGraw Hill;. 1996: 6-44.
Griffin DE, Moser HW, Mendoza Q, et al. Identification of the inflammatory cells in the central nervous system of patients with adrenoleukodystrophy. Ann Neurol. 1985 Dec. 18(6):660-4. [QxMD MEDLINE Link].
Jaffe R, Crumrine P, Hashida Y, Moser HW. Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females. Am J Pathol. 1982 Jul. 108(1):100-11. [QxMD MEDLINE Link].
Jansen GA, Ofman R, Ferdinandusse S, et al. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet. 1997 Oct. 17(2):190-3. [QxMD MEDLINE Link].
Jansen GA, Ofman R, Ferdinandusse S, et al. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet. 1997 Oct. 17(2):190-3. [QxMD MEDLINE Link].
Jansen GA, Wanders RJ, Watkins PA,, Mihalik SJ. Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease. N Engl J Med. 1997 Jul 10. 337(2):133-4. [QxMD MEDLINE Link].
Kaufmann WE, Theda C, Naidu S, et al. Neuronal migration abnormality in peroxisomal bifunctional enzyme defect. Ann Neurol. 1996 Feb. 39(2):268-71. [QxMD MEDLINE Link].
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 Apr. 23(4):869-901. [QxMD MEDLINE Link].
Knazek RA, Rizzo WB, Schulman JD, Dave JR. Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy. J Clin Invest. 1983 Jul. 72(1):245-8. [QxMD MEDLINE Link].
Kruse B, Barker PB, van Zijl PC, et al. Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy. Ann Neurol. 1994 Oct. 36(4):595-608. [QxMD MEDLINE Link].
Kumar AJ, Rosenbaum AE, Naidu S, et al. Adrenoleukodystrophy: correlating MR imaging with CT. Radiology. 1987 Nov. 165(2):497-504. [QxMD MEDLINE Link].
Lu JF, Lawler AM, Watkins PA, et al. A mouse model for X-linked adrenoleukodystrophy. Proc Natl Acad Sci U S A. 1997 Aug 19. 94(17):9366-71. [QxMD MEDLINE Link].
MacDonald JT, Stauffer AE, Heitoff K. Adrenoleukodystrophy: early frontal lobe involvement on computed tomography. J Comput Assist Tomogr. 1984 Feb. 8(1):128-30. [QxMD MEDLINE Link].
McDonald JC, Landreneau MD, Rohr MS, DeVault GA Jr. Reversal by liver transplantation of the complications of primary hyperoxaluria as well as the metabolic defect. N Engl J Med. 1989 Oct 19. 321(16):1100-3. [QxMD MEDLINE Link].
Migeon BR, Moser HW, Moser AB, et al. Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci U S A. 1981 Aug. 78(8):5066-70. [QxMD MEDLINE Link].
Mihalik SJ, Morrell JC, Kim D, et al. Identification of PAHX, a Refsum disease gene. Nat Genet. 1997 Oct. 17(2):185-9. [QxMD MEDLINE Link].
Moser HW, Moser AB. Peroxisomal disorders: overview. Ann N Y Acad Sci. 1996 Dec 27. 804:427-41. [QxMD MEDLINE Link].
Moser HW, Naidu S, Kumar AJ, Rosenbaum AE. The adrenoleukodystrophies. Crit Rev Neurobiol. 1987. 3(1):29-88. [QxMD MEDLINE Link].
Moser HW, Raymond GV, Lu SE, et al. Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. Arch Neurol. 2005 Jul. 62(7):1073-80. [QxMD MEDLINE Link].
Mosser J, Douar AM, Sarde CO, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature. 1993 Feb 25. 361(6414):726-30. [QxMD MEDLINE Link].
Mosser J, Lutz Y, Stoeckel ME, et al. The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein. Hum Mol Genet. 1994 Feb. 3(2):265-71. [QxMD MEDLINE Link].
Ofman R, Hettema EH, Hogenhout EM, et al. Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. Hum Mol Genet. 1998 May. 7(5):847-53. [QxMD MEDLINE Link].
Poll-The BT, Roels F, Ogier H, et al. 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):422-34. [QxMD MEDLINE Link].
Powers J. Peroxisomal diseases. In: Pediatric Neuropathology. Baltimore, Md: Lippincott Williams & Wilkins;. 1995: 630-9.
Powers JM. Adreno-leukodystrophy (adreno-testiculo-leukomyelo-neuropathic-complex). Clin Neuropathol. 1985 Sep-Oct. 4(5):181-99. [QxMD MEDLINE Link].
Powers JM. The pathology of peroxisomal disorders with pathogenetic considerations. J Neuropathol Exp Neurol. 1995 Sep. 54(5):710-9. [QxMD MEDLINE Link].
Powers JM, Liu Y, Moser AB, Moser HW. The inflammatory myelinopathy of adreno-leukodystrophy: cells, effector molecules, and pathogenetic implications. J Neuropathol Exp Neurol. 1992 Nov. 51(6):630-43. [QxMD MEDLINE Link].
Powers JM, Moser HW. Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis. Brain Pathol. 1998 Jan. 8(1):101-20. [QxMD MEDLINE Link].
Powers JM, Schaumburg HH, Johnson AB, Raine CS. A correlative study of the adrenal cortex in adreno-leukodystrophy--evidence for a fatal intoxication with very long chain saturated fatty acids. Invest Cell Pathol. 1980 Oct-Dec. 3(4):353-76. [QxMD MEDLINE Link].
Powers JM, Tummons RC, Caviness VS, et al. Structural and chemical alterations in the cerebral maldevelopment of fetal cerebro-hepato-renal (Zellweger) syndrome. J Neuropathol Exp Neurol. 1989 May. 48(3):270-89. [QxMD MEDLINE Link].
Purdue PE, Zhang JW, Skoneczny M, Lazarow PB. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nat Genet. 1997 Apr. 15(4):381-4. [QxMD MEDLINE Link].
Roth KS. Peroxisomal disease--common ground for pediatrician, cell biologist, biochemist, pathologist, and neurologist. Clin Pediatr (Phila). 1999 Feb. 38(2):73-5. [QxMD MEDLINE Link].
Schram AW, Goldfischer S, van Roermund CW, et al. Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. Proc Natl Acad Sci U S A. 1987 Apr. 84(8):2494-6. [QxMD MEDLINE Link].
Volpe JJ, Adams RD. Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration. Acta Neuropathol (Berl). 1972. 20(3):175-98. [QxMD MEDLINE Link].
Wanders RJ. Metabolic and molecular basis of peroxisomal disorders: a review. Am J Med Genet A. 2004 May 1. 126(4):355-75. [QxMD MEDLINE Link].
Wanders RJ. Peroxisomal disorders: clinical, biochemical, and molecular aspects. Neurochem Res. 1999 Apr. 24(4):565-80. [QxMD MEDLINE Link].
Wanders RJ. Peroxisomes, lipid metabolism, and peroxisomal disorders. Mol Genet Metab. 2004 Sep-Oct. 83(1-2):16-27. [QxMD MEDLINE Link].
Wanders RJ, Schutgens RB, Barth PG. Peroxisomal disorders: a review. J Neuropathol Exp Neurol. 1995 Sep. 54(5):726-39. [QxMD MEDLINE Link].
Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. 2005 Feb. 67(2):107-33. [QxMD MEDLINE Link].
Watts RW, Morgan SH, Danpure CJ, et al. Combined hepatic and renal transplantation in primary hyperoxaluria type I: clinical report of nine cases. Am J Med. 1991 Feb. 90(2):179-88. [QxMD MEDLINE Link].
Yakovac WC. Calcareous chondropathies in the newborn infant. AMA Arch Pathol. 1954 Jan. 57(1):62-79. [QxMD MEDLINE Link].
Young RS, Ramer JC, Towfighi J, et al. Adrenoleukodystrophy: unusual computed tomographic appearance. Arch Neurol. 1982 Dec. 39(12):782-3. [QxMD MEDLINE Link].