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

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced 1
CL
classification 9
CO
complications 5
DI
diagnosis 30
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy 6
EC
economics 1
EM
embryology
EN
enzymology 5
EP
epidemiology 4
EH
ethnology
ET
etiology 4
GE
genetics 13
HI
history
IM
immunology
ME
metabolism 4
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 11
PP
physiopathology 6
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 16
UR
urine
VE
veterinary
VI
virology

C Diseases
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 213
C16.320.565 Metabolism, Inborn Errors 711
C16.320.565.100 Amino Acid Metabolism, Inborn Errors 124
C16.320.565.151 Amino Acid Transport Disorders, Inborn 1
C16.320.565.176 Amyloidosis, Familial 16
C16.320.565.189 Brain Diseases, Metabolic, Inborn 26
C16.320.565.202 Carbohydrate Metabolism, Inborn Errors 36
C16.320.565.240 Cytochrome-c Oxidase Deficiency 27
C16.320.565.300 Hyperbilirubinemia, Hereditary 35
C16.320.565.398 Lipid Metabolism, Inborn Errors 154
C16.320.565.595 Lysosomal Storage Diseases 72
C16.320.565.595.100 Aspartylglucosaminuria
C16.320.565.595.201 Cholesterol Ester Storage Disease 13
C16.320.565.595.377 Cystinosis 16
C16.320.565.595.554 Lysosomal Storage Diseases, Nervous System 13
C16.320.565.595.577 Mannosidase Deficiency Diseases 1
C16.320.565.595.600 Mucopolysaccharidoses 81
C16.320.565.595.800 Pycnodysostosis 2
C16.320.565.618 Metal Metabolism, Inborn Errors 16
C16.320.565.663 Peroxisomal Disorders 20
C16.320.565.753 Progeria 27
C16.320.565.798 Purine-Pyrimidine Metabolism, Inborn Errors 40
C16.320.565.893 Renal Tubular Transport, Inborn Errors 36
C16.320.565.925 Steroid Metabolism, Inborn Errors 7
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 196
C18.452.648 Metabolism, Inborn Errors 711
C18.452.648.100 Amino Acid Metabolism, Inborn Errors 124
C18.452.648.151 Amino Acid Transport Disorders, Inborn 1
C18.452.648.176 Amyloidosis, Familial 16
C18.452.648.189 Brain Diseases, Metabolic, Inborn 26
C18.452.648.202 Carbohydrate Metabolism, Inborn Errors 36
C18.452.648.300 Hyperbilirubinemia, Hereditary 35
C18.452.648.398 Lipid Metabolism, Inborn Errors 154
C18.452.648.595 Lysosomal Storage Diseases 72
C18.452.648.595.100 Aspartylglucosaminuria
C18.452.648.595.201 Cholesterol Ester Storage Disease 13
C18.452.648.595.377 Cystinosis 16
C18.452.648.595.554 Lysosomal Storage Diseases, Nervous System 13
C18.452.648.595.577 Mannosidase Deficiency Diseases 1
C18.452.648.595.600 Mucopolysaccharidoses 81
C18.452.648.595.800 Pycnodysostosis 2
C18.452.648.618 Metal Metabolism, Inborn Errors 16
C18.452.648.663 Peroxisomal Disorders 20
C18.452.648.753 Progeria 27
C18.452.648.798 Purine-Pyrimidine Metabolism, Inborn Errors 40
C18.452.648.893 Renal Tubular Transport, Inborn Errors 36
C18.452.648.925 Steroid Metabolism, Inborn Errors 7

Glutamyl Ribose-5-Phosphate Storage Disease Disease MeSH Browser

Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency Disease MeSH Browser

Neuraminidase deficiency with beta-galactosidase deficiency Disease MeSH Browser

Schindler Disease, Type I Disease MeSH Browser

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