Purine-Pyrimidine Metabolism, Inborn Errors [poruchy metabolismu purinů a pyrimidinů]

topical
41
Terms

purin a pyrimidin - vrozené poruchy metabolismu
vrozené poruchy metabolismu purinu a pyrimidinu

 

Purine Pyrimidine Metabolism, Inborn Errors

Persistent link   https://www.medvik.cz/link/D011686
Definition

Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.

Annotation
coordinate with specific purine /metab or pyrimidine /metab
DUI
D011686 MeSH Browser
CUI
M0018168
History note
65
Public note
65

Allowable subheadings

BL
blood 4
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 3
CO
complications 2
DI
diagnosis 27
DG
diagnostic imaging 1
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology 4
EP
epidemiology 2
EH
ethnology
ET
etiology
GE
genetics 13
HI
history
IM
immunology
ME
metabolism 5
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology 3
PC
prevention & control
PX
psychology 1
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 1
UR
urine 2
VE
veterinary
VI
virology

C Diseases
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 215
C16.320.565 Metabolism, Inborn Errors 714
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 28
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 73
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 41
C16.320.565.798.183 Dihydropyrimidine Dehydrogenase Deficiency 2
C16.320.565.798.368 Gout 373
C16.320.565.798.594 Lesch-Nyhan Syndrome 20
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 1 200
C18.452.648 Metabolism, Inborn Errors 714
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 28
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 73
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 41
C18.452.648.798.183 Dihydropyrimidine Dehydrogenase Deficiency 2
C18.452.648.798.368 Gout 373
C18.452.648.798.594 Lesch-Nyhan Syndrome 20
C18.452.648.893 Renal Tubular Transport, Inborn Errors 36
C18.452.648.925 Steroid Metabolism, Inborn Errors 7

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