e80-2 & Parte XI Trastornos genéticos del metabolismo BIBLIOGRAFÍA Trastornos peroxisómicos Ferdinandusse S, Ylianttila MS, Gloerich J, et al: Mutational spectrum of D-bifunctional protein deficiency and structure-based genotypephenotype analysis, Am J Hum Genet 78:112-124, 2006. Fidaleo M: Peroxisomes and peroxisomal disorders: the main facts, Exp Toxicol Pathol 2009 Sep 7. Epub ahead of print. Moser HW: Genotype-phenotype correlations in disorders of peroxisome biogenesis, Mol Genet Metab 68:316-327, 1999. Motley AM, Brites P, Gerez L, et al: Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1, Am J Hum Genet 70:612-624, 2002. Steinberg S, Chen L, Wei L, Moser A, et al: The PEX gene screen: Molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum, Mol Genet Metab 83:252-263, 2004. Walter C, Gootjes J, Mooijer PA: Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels, Am J Hum Genet 69:35-48, 2001. Wanders RJ, Jansen GA, Skjeldal OH: Refsum disease, peroxisomes and phytanic acid oxidation: a review, J Neuropathol Exp Neurol 60:1021-1031, 2001. Wanders RJ, Komen JC: Peroxisomes, lipid metabolism, and peroxisomal disorders, Biochem Soc Trans 35:865-869, 2007. Wanders RJ, Waterham HR: Peroxisomal disorders: the single peroxisomal enzyme deficiencies, Biochim Biophys Acta 1763:1707-1720, 2006. Waterham HR, Koster J, van Roermund CWT, et al: A lethal defect of mitochondrial and peroxisomal fission, N Engl J Med 356:1736-1740, 2007. Adrenoleucodistrofia (ligada al cromosoma X) Kemp S, Pujol A, Waterham HR, et al: X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations, Hum Mutat 18:499-515, 2001. Moser HW, Mahmood A, Raymond GV: X-linked adrenoleukodystrophy, Nat Clin Pract Neurol 3:150-151, 2007. Moser HW, Moser AB, Hollandsworth K, et al: ‘‘Lorenzo’s oil’’ therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy, J Mol Neurosci 33:105-113, 2007. Moser HW, Raymond GV, Dubey P: Adrenoleukodystrophy: new approaches to a neurodegenerative disease, JAMA 294:3131-3134, 2005. Moser HW, Raymond GV: Lu SE, et al: Follow-up of 89 Lorenzo’s oil treated asymptomatic adrenoleukodystrophy patients, Arch Neurol 62:1073-1080, 2005. Peters C, Charnas LR, Tan Y, et al: Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999, Blood 104:881-888, 2004. Stephenson DJ, Bezman L, Raymond GV: Acute presentation of childhood adrenoleukodystrophy, Neuropediatrics 31:293-297, 2000.