[Adult lysosomal and peroxisomal enzyme diseases and glycogenoses. I. Enzyme diseases with predominant symptoms in the fields of internal medicine, dermatology, orthopedics and ophthalmology].
Thanks to ever increasing incidence of late onset genetic metabolic disorders a comprehensive survey is given of the adult lysosomal and peroximal enzymopathies including adult type glycogenoses. For the sake of maximal practical utility the classical enzyme defect scheme was abandoned. The disorders are referred according to the leading symptomatology by which they enter the diagnostic process. In this part the entities are dealt with having symptomatology belonging to the field of internal medicine, dermatology, orthopedy and ophthalmology.
Elleder
M
M
Hlavův I. patologicko-anatomický ústav, 1. lékarské fakulty, Univerzita Karlova, Praha, Czech Republic.
D000328:Adult; D001847:Bone Diseases / Q000175:diagnosis; D005128:Eye Diseases / Q000175:diagnosis; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006801:Humans; D007388:Internal Medicine; D016464:Lysosomal Storage Diseases / Q000175:diagnosis*; D018901:Peroxisomal Disorders / Q000175:diagnosis*; D012871:Skin Diseases / Q000175:diagnosis
Adultní enzymopatie lysozomální a peroxizomální glykogenózy. I. Enzymopatie s prevahou symptomatologie interní, dermatologické, ortopedické a oftalmologické.