Elleder M
Hlavův I. patologicko-anatomický ústav, 1. lékarské fakulty, Univerzita Karlova, Praha, Czech Republic.
Sb Lek. 1994;95(3):221-30.
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.
由于迟发性遗传代谢疾病的发病率不断上升,本文对成人溶酶体和过氧化物酶体酶病进行了全面综述,包括成人型糖原贮积病。为了实现最大的实际应用价值,摒弃了经典的酶缺陷分类法。这些疾病根据其在诊断过程中呈现的主要症状进行分类。在这一部分中,将讨论那些症状涉及内科、皮肤科、骨科和眼科领域的疾病。