Lysosomal Storage Diseases [lyzozomální nemoci z ukládání]

topical
72
Terms

lysosomální střádavá onemocnění
lysozomální nemoci z ukládání
lyzozomální střádavé nemoci

 

Lysosomal Enzyme Disorders

Persistent link   https://www.medvik.cz/link/D016464
Definition

Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.

Annotation
an inborn error of metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
DUI
D016464 MeSH Browser
CUI
M0025150
Previous indexing
Metabolism, Inborn Errors (1972-1991)
History note
92
Public note
92

C Diseases
C16.320.565.176 Amyloidosis, Familial 16
C16.320.565.595 Lysosomal Storage Diseases 72
C16.320.565.595.100 Aspartylglucosaminuria
C16.320.565.595.377 Cystinosis 16
C16.320.565.595.577 Mannosidase Deficiency Diseases 1
C16.320.565.595.600 Mucopolysaccharidoses 81
C16.320.565.595.800 Pycnodysostosis 2
C16.320.565.663 Peroxisomal Disorders 20
C16.320.565.753 Progeria 27
C18.452 Metabolic Diseases 1 196
C18.452.648.176 Amyloidosis, Familial 16
C18.452.648.595 Lysosomal Storage Diseases 72
C18.452.648.595.100 Aspartylglucosaminuria
C18.452.648.595.377 Cystinosis 16
C18.452.648.595.577 Mannosidase Deficiency Diseases 1
C18.452.648.595.600 Mucopolysaccharidoses 81
C18.452.648.595.800 Pycnodysostosis 2
C18.452.648.663 Peroxisomal Disorders 20
C18.452.648.753 Progeria 27