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Mutat., 1, 103, 10.1002\u002Fhumu.1380010204\nScott, 1992, Alpha-l-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype, Hum. Mutat., 1, 333, 10.1002\u002Fhumu.1380010412\nPereira, 2008, Mutational and oxidative stress analysis in patients with mucopolysaccharidosis type I undergoing enzyme replacement therapy, Clin. Chim. Acta, 387, 75, 10.1016\u002Fj.cca.2007.09.008\nScott, 1995, Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications, Hum. Mutat., 6, 288, 10.1002\u002Fhumu.1380060403\nBertola, 2011, IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel alpha-l-iduronidase (IDUA) alleles, Hum. Mutat., 32, E2189, 10.1002\u002Fhumu.21479\nChkioua, 2011, Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-l-iduronidase mutations in Tunisian patients, Diagn. 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Rare Dis., 7, 51, 10.1186\u002F1750-1172-7-51\nPeters, 2004, Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999, Blood, 104, 881, 10.1182\u002Fblood-2003-10-3402\nCartier, 2009, Hematopoietic stem cell gene therapy with a Lentiviral vector in X-linked adrenoleukodystrophy, Science, 326, 818, 10.1126\u002Fscience.1171242\nMoser, 1997, Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy, Brain, 120, 1485, 10.1093\u002Fbrain\u002F120.8.1485\nHubbard, 2006, Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings, Mol. Genet. Metab., 89, 185, 10.1016\u002Fj.ymgme.2006.05.001\nHubbard, 2009, Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS\u002FMS) method, Mol. Genet. 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