vrozené poruchy glykosylace [Congenital Disorders of Glycosylation]
- Termíny
-
glykoproteinový syndrom deficitu sacharidů
kongenitální poruchy glykosylace
-
Carbohydrate-Deficient Glycoprotein Syndrome
Glycoprotein Syndrome, Carbohydrate-Deficient
Geneticky heterogenní skupina dědičných poruch, které vyplývají z chybné glykosylace N-glykoproteinů.
A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
- DUI
- D018981 MeSH Prohlížeč
- CUI
- M0028352
- Předchozí užití
- Carbohydrate Metabolism, Inborn Errors (1991-1995); Glycoproteins (1977-1995)
- Historická pozn.
- 2011(1996)
- Veřejná pozn.
- 2011; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME (1996-2010)
Povolená podhesla
- CI
- chemicky indukované
- SU
- chirurgie
- HI
- dějiny
- DG
- diagnostické zobrazování 1
- DI
- diagnóza 17
- DH
- dietoterapie
- EC
- ekonomika
- EM
- embryologie
- EN
- enzymologie 3
- EP
- epidemiologie 1
- ET
- etiologie 3
- EH
- etnologie
- DT
- farmakoterapie 2
- GE
- genetika 14
- IM
- imunologie
- CL
- klasifikace
- CO
- komplikace 2
- BL
- krev
- ME
- metabolismus 6
- MI
- mikrobiologie
- UR
- moč
- MO
- mortalita
- CF
- mozkomíšní mok
- NU
- ošetřování
- PS
- parazitologie
- PP
- patofyziologie 3
- PA
- patologie 4
- PC
- prevence a kontrola
- PX
- psychologie
- RT
- radioterapie
- RH
- rehabilitace
- TH
- terapie 5
- VE
- veterinární
- VI
- virologie
Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities Disease MeSH Prohlížeč
Congenital Disorder Of Glycosylation, Type I-IIX Disease MeSH Prohlížeč
Congenital Disorder Of Glycosylation, Type IIB Disease MeSH Prohlížeč
Congenital Disorder Of Glycosylation, Type IIF Disease MeSH Prohlížeč
Congenital Disorder Of Glycosylation, Type IIH Disease MeSH Prohlížeč
Congenital Disorder Of Glycosylation, Type IIID Disease MeSH Prohlížeč
Congenital Disorder Of Glycosylation, Type Im Disease MeSH Prohlížeč
Congenital Disorder Of Glycosylation, Type In Disease MeSH Prohlížeč
Congenital Disorder of Glycosylation, Type Io Disease MeSH Prohlížeč
Congenital disorder of glycosylation type 1A Disease MeSH Prohlížeč
Congenital disorder of glycosylation type 1B Disease MeSH Prohlížeč
Congenital disorder of glycosylation type 1C Disease MeSH Prohlížeč
Congenital disorder of glycosylation type 1D Disease MeSH Prohlížeč
Congenital disorder of glycosylation type 1E Disease MeSH Prohlížeč
Congenital disorder of glycosylation type 1F Disease MeSH Prohlížeč
Congenital disorder of glycosylation type 1G Disease MeSH Prohlížeč
Congenital disorder of glycosylation type 1H Disease MeSH Prohlížeč
Congenital disorder of glycosylation type 1I Disease MeSH Prohlížeč
Congenital disorder of glycosylation type 1J Disease MeSH Prohlížeč
Congenital disorder of glycosylation type 1K Disease MeSH Prohlížeč
Congenital disorder of glycosylation type 1L Disease MeSH Prohlížeč
Congenital disorder of glycosylation type 1X Disease MeSH Prohlížeč
Congenital disorder of glycosylation type 2A Disease MeSH Prohlížeč
Congenital disorder of glycosylation type 2D Disease MeSH Prohlížeč
Congenital disorder of glycosylation type 2E Disease MeSH Prohlížeč
Congenital disorder of glycosylation type II Disease MeSH Prohlížeč
Congenital disorder of glycosylation, type 2C Disease MeSH Prohlížeč
Congenital disorder of glycosylation, type 2G Disease MeSH Prohlížeč
NGLY1 deficiency Disease MeSH Prohlížeč