Neonatal adrenoleukodystrophy
Definition:
References:
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[1]. Andrea Mignarri, et al. Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. JIMD Rep. 2012;6:43-6. [Content Brief]
[2]. C Maxit, et al. Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder. JIMD Rep. 2017;34:71-75. [Content Brief]
[3]. C Walter, et al. Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels. Am J Hum Genet. 2001 Jul;69(1):35-48. [Content Brief]
[4]. Daan M van den Brink, et al. Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet. 2003 Feb;72(2):471-7. [Content Brief]
[5]. G Dodt, et al. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nat Genet. 1995 Feb;9(2):115-25. [Content Brief]
[6]. Hans R Waterham, et al. Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim Biophys Acta. 2012 Sep;1822(9):1430-41. [Content Brief]
[7]. Jeannette Gootjes, et al. Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. Eur J Hum Genet. 2004 Feb;12(2):115-20. [Content Brief]
[8]. Kim D Falkenberg, et al. Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. Am J Hum Genet. 2017 Dec 7;101(6):965-976. [Content Brief]
[9]. Maria Blomqvist, et al. Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report. J Med Case Rep. 2017 Aug 8;11(1):218. [Content Brief]
[10]. Merel S Ebberink, et al. A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene. J Med Genet. 2012 May;49(5):307-13. [Content Brief]
[11]. Merel S Ebberink, et al. Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. J Med Genet. 2010 Sep;47(9):608-15. [Content Brief]
[12]. Naomi Matsumoto, et al. Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. Am J Hum Genet. 2003 Aug;73(2):233-46. [Content Brief]
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