Affordable Access

[Adult lysosomal and peroxisomal enzyme diseases and glycogenoses. I. Enzyme diseases with predominant symptoms in the fields of internal medicine, dermatology, orthopedics and ophthalmology].

Authors
Type
Published Article
Journal
Sborník lékar̆ský
Publication Date
Volume
95
Issue
3
Pages
221–230
Identifiers
PMID: 8711352
Source
Medline

Abstract

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.

There are no comments yet on this publication. Be the first to share your thoughts.

Statistics

Seen <100 times
0 Comments