Congenital_Disorder_of_GlycosylationCongenital_disorder_of_glycosylationDefectos_cong%C3%A9nitos_de_la_glicosilaci%C3%B3n%D8%A7%D8%AE%D8%AA%D9%84%D8%A7%D9%84_%D9%85%D8%A7%D8%AF%D8%B1%D8%B2%D8%A7%D8%AF%DB%8C_%DA%AF%D9%84%DB%8C%DA%A9%D9%88%D8%B2%DB%8C%D9%84%D8%A7%D8%B3%DB%8C%D9%88%D9%86Anomalies_cong%C3%A9nitales_de_la_glycosylationQ1125675
about
congenital disorder of glycosylation type Icongenital disorder of glycosylation type IIdisorder of protein N-glycosylationdisorder of protein O-glycosylationinborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylationdisorder of multiple glycosylationcongenital disorder of glycosylation with neurological involvementcongenital disorder of glycosylation with hepatic involvementcongenital disorder of glycosylation with intestinal involvementcongenital disorder of glycosylation with skin involvementcongenital disorder of glycosylation with nephropathy as a major featurecongenital disorder of glycosylation with developmental anomalyCDG syndrome type 4
P279
ALG8-CDG: novel patients and review of the literature.Insights into complexity of congenital disorders of glycosylation.Genetic defects in dolichol metabolism.From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases.Metabolic cutis laxa syndromes.Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylationNutritional Therapies in Congenital Disorders of Glycosylation (CDG).CDG Therapies: From Bench to Bedside.
P921
Q18553313-660C0B0F-734F-47B3-9AB6-B5953FB54BD7Q18553314-C298658E-CBD6-4546-B6EA-8F9FC0EEC14DQ55787316-8C4783BE-4485-4860-8EEB-1AFB8CE2A611Q55787317-826C11CD-BB74-457F-A60D-3BE48BDB62F6Q55787324-74B1B59F-7645-450F-8E7C-80AB6C81B5DFQ55787325-1A6F3965-01E0-4529-8A37-4FF9E5970CDEQ55787867-52F7DD76-6D1E-4167-9F49-FEB9FD0D4168Q55787884-324AA3E0-29EC-4DF4-AC61-2BFB6F8FD14FQ55787904-8D5A0B0E-AA6D-4F5D-9C13-9F0320D095C9Q55787916-67F61649-DDB4-42E6-9531-22C4EAF1CBAFQ55787917-F99B0A0E-C892-4A0E-9D34-38199F09C140Q55787920-1A27BD3D-E4BA-451F-9A51-3D0B8602F60EQ55789948-78071667-B6DE-40C2-B16D-2633218FEC29
P279
Q27687442-671BD8E1-ED7F-42D5-B5B4-19D19CBA80B1Q33773216-579FCDC0-CEF8-48F1-A461-0C7DBCFA2BC3Q34798492-33F512E9-B5BE-454E-B732-2B1B1CB3368CQ37850729-E85EE8B1-DAB0-43E7-958B-D4F2D4311CFDQ37856837-164FF56D-F015-4BAE-8BBB-4B04A6CB8A65Q38688788-6F2220F2-1BC6-4617-9E8F-0C7A481B7DE3Q47115793-694552BE-4E49-43E1-8D18-E9901D4713DCQ52558429-9F50E742-14DE-44AB-BC87-5B2A66CCB9CA
P921
description
Krankheit
@de
carbohydrate metabolic disorde ...... tissue proteins and/or lipids
@en
name
Anomalies congénitales de la glycosylation
@fr
Congenital Disorder of Glycosylation
@de
Defectos congénitos de la glicosilación
@es
congenital disorder of glycosylation
@en
disordine congenito
@it
اختلال مادرزادی گلیکوزیلاسیون
@fa
先天性糖基化紊亂
@zh
先天性糖基化障碍
@zh-cn
先天性糖基化障碍
@zh-hans
先天性糖基化障礙
@zh-hant
type
label
Anomalies congénitales de la glycosylation
@fr
Congenital Disorder of Glycosylation
@de
Defectos congénitos de la glicosilación
@es
congenital disorder of glycosylation
@en
disordine congenito
@it
اختلال مادرزادی گلیکوزیلاسیون
@fa
先天性糖基化紊亂
@zh
先天性糖基化障碍
@zh-cn
先天性糖基化障碍
@zh-hans
先天性糖基化障礙
@zh-hant
altLabel
Anomalies Congénitales De La Glycosylation
@fr
Anomalies congenitales de la glycosylation
@fr
CDG Syndrome
@fr
CDG
@en
Carbohydrat-Defizit-Glycoprotein-Syndrom
@de
Carbohydrate deficient glycoprotein syndrome
@en
Carbohydrate-deficient glycoprotein syndrome
@en
Congenital Disorders of Glycosylation
@fr
Defectos Congénitos de la Glicosilación (Síndrome CDG)
@es
Defectos Congénitos de la Glicosilación
@es
prefLabel
Anomalies congénitales de la glycosylation
@fr
Congenital Disorder of Glycosylation
@de
Defectos congénitos de la glicosilación
@es
congenital disorder of glycosylation
@en
disordine congenito
@it
اختلال مادرزادی گلیکوزیلاسیون
@fa
先天性糖基化紊亂
@zh
先天性糖基化障碍
@zh-cn
先天性糖基化障碍
@zh-hans
先天性糖基化障礙
@zh-hant
P1417
P2888
P486
P6366
P1417
topic/congenital-disorder-of-glycosylation
topic/type-I-congenital-disorder-of-glycosylation
topic/type-Ia-congenital-disorder-of-glycosylation
P1692
P1748
P1995
P2293
P2892
P4229
P4317
P486
P492
P5270
MONDO:0015286
P6366
2776129412
2908725367
P672
C16.320.565.202.125
C18.452.648.202.125