Pathogenetic mechanisms in peroxisomal disorders.
Advances have been made concerning the pathogenesis of the two major classes of peroxisomal disorders. The gene defect in X-linked adrenoleukodystrophy has been firmly established and therapies are emerging. Complementation analysis has permitted categorization of disorders of peroxisome biogenesis, their molecular basis and mutations are being defined, and new therapies are being explored.
Moser
H W
HW
Neurogenetics Research Center, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD 21205, USA.
D016026:Bone Marrow Transplantation; D004252:DNA Mutational Analysis; D005816:Genetic Complementation Test; D015316:Genetic Therapy; D006801:Humans; D018901:Peroxisomal Disorders / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D011379:Prognosis; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome