[Biochemical genetics of peroxisomal disorders].
This review is the first one dealing specifically with a class of peroxisomal disorders that remain virtually unfamiliar to Russian medical genetic consultants and pediatricians. Data are presented that concern classification, genetics, characterization of clinical and biochemical phenotype, prevention, and therapy of 18 nosological units included in the class of peroxisomal disorders. Problems of general biological significance are reviewed, which can be solved using peroxisomal disorders as a valuable experimental model.
Krasnopol'skaia
K D
KD
Chivilev
I V
IV
Akhunov
V S
VS
D000818:Animals; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000145:classification / Q000517:prevention & control / Q000628:therapy; D008830:Microbodies / Q000502:physiology*; D010641:Phenotype
Biokhimicheskaia genetika peroksisomnykh bolezneĭ.