How to find and diagnose a CDG due to defective N-glycosylation. - Wikidata - awgldk - TriplyDB

How to find and diagnose a CDG due to defective N-glycosylation.

How to find and diagnose a CDG due to defective N-glycosylation.

http://www.wikidata.org/entity/Q42819977

about

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy ALG8-CDG: novel patients and review of the literature.Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.Insights into complexity of congenital disorders of glycosylation.Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.Congenital protein hypoglycosylation diseases.Human plasma protein N-glycosylation A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation.Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.Congenital disorders of glycosylation: new defects and still counting.Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.Screening for congenital disorders of glycosylation in the first weeks of life.Nutritional Therapies in Congenital Disorders of Glycosylation (CDG).Comparison of transferrin isoform analysis by capillary electrophoresis and HPLC for screening congenital disorders of glycosylation.Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A.A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.Clinical glycomics for the diagnosis of congenital disorders of glycosylation.

P2860

Q24308069-B097D293-077B-45E9-9499-F19F068B99B9 Q27687442-51A13BFC-29E0-423F-8499-E90060D851E2 Q30359286-9E1C492C-274B-401F-B87B-129B987B6D35 Q33773216-FF866B0C-7E1B-4A25-95F7-5351B66DD0E3 Q34980822-AC57353E-FEDF-4F34-995E-2E735B0F4D89 Q35220720-2BE4406D-C0F1-4CBF-AE16-45A345526B27 Q36116740-6A9CC871-FE63-4377-AEE0-4B4CAED0EAFD Q36695784-B9917123-679E-4415-A330-B2A28E09B686 Q36925245-4C673ADF-C4FC-4C02-B224-D2E93A277D0E Q36963945-F6FF476B-21B8-4683-BF6A-5345C5932BE4 Q37043798-2373D95B-759B-47D8-881B-E15CB5B4D60A Q37351473-35F50DBF-A621-4349-B214-45FAA159CF7E Q38187717-E397D42B-6E94-490F-803C-7ED35E7B6C4B Q38211994-FED33602-1CED-4120-BFE6-F9EA187D6D3B Q38688788-6A4DC8BA-E070-4FEE-91B3-F54BDFE212E6 Q39692293-FEB5B517-DC99-4CC1-A1BC-5A9A0E03CFCF Q41929157-883C01AC-703A-445C-A605-DA22E4B1B8A4 Q43490523-CA24830F-9830-4760-84FD-274EE32CBA8B Q47115793-23B66B17-869A-461F-9D89-0DFF3C5A7E45 Q48194654-986A1EE9-DD75-480F-BB42-316A14989BC4 Q50442967-FAC03762-7F15-4032-B77E-CF91228890AB Q50503545-D8AD82EB-14F4-4C27-AA0A-A6A92306566F Q54959588-2C33335A-6AAE-4180-94D6-ED8C9DF9BC9C

P2860

How to find and diagnose a CDG due to defective N-glycosylation.

http://www.wikidata.org/entity/Q42819977

description

2011 nî lūn-bûn

@nan

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

2011年论文

@zh

2011年论文

@zh-cn

name

How to find and diagnose a CDG due to defective N-glycosylation.

@en

How to find and diagnose a CDG due to defective N-glycosylation.

@nl

type

label

How to find and diagnose a CDG due to defective N-glycosylation.

@en

How to find and diagnose a CDG due to defective N-glycosylation.

@nl

prefLabel

How to find and diagnose a CDG due to defective N-glycosylation.

@en

How to find and diagnose a CDG due to defective N-glycosylation.

@nl

P1433

Q42819977-DC237ABC-DC7C-44B7-9A30-9BCC78A13735

P1476

Q42819977-98DEDE44-07E3-40AF-A6EC-A162085ED891

P2093

Q42819977-25B31E2B-6A59-41B8-ADAB-141FB0392CB6

Q42819977-4C9EBFDC-2B12-4314-B2EA-8CEE734297C3

Q42819977-C451D8BD-73DB-44C3-9A3F-5259A8EF5007

P2860

Q42819977-0C89BC3A-057A-462D-ACA1-4925858B5D66

Q42819977-2F7C8573-2BB8-48E2-819C-18E3C80B88D1

Q42819977-336EF0EA-D03E-44CE-AE14-E524B5D1B55D

Q42819977-6C270D24-EE10-423A-9B37-EDE69F25D8C5

Q42819977-6FF750AD-DFE4-43FD-9DFB-CF4055FA1502

Q42819977-8439BDA0-151F-4381-9B9B-656F2843CF1C

Q42819977-8A995763-D69C-48FB-A196-0B278B3D42BA

Q42819977-8C671CC3-9049-4A52-87FC-4D371172191F

Q42819977-A1036690-40BF-4157-B6F3-186AB9360FE0

Q42819977-AD0874DE-CA0D-424D-A7DE-39130E43807C

P2888

Q42819977-24B5C796-FEEC-4C2C-8ECC-E0961E9D2DDA

P304

Q42819977-077709B8-7C78-4C9E-AD3C-D526733308D1

P31

Q42819977-2b4e1490-2e23-4e2a-8e4d-412d471aee42

Q42819977-7109DEAB-B34D-44C1-935C-75BD355860D2

P356

Q42819977-195A98E2-1C9C-4161-A465-281B49E3B89E

P433

Q42819977-ECD76491-E740-4576-A6BF-038C170112E1

P478

Q42819977-EC46CF54-6888-4835-929B-149569A2ADB0

P577

Q42819977-3D49315D-F43C-45D0-8974-520B5EC2F653

P5875

Q42819977-0179135B-98BD-4857-9F7B-1913B99CC376

P6179

Q42819977-F58AA0C6-FA9A-40BC-8622-D954C8A6287C

P698

Q42819977-658E9BD8-FAED-4EDD-8539-480028A083BF

P921

Q42819977-294864B9-DCD6-4CC5-B25A-96B0E50AC3FE

P932

Q42819977-77BA9F1F-3CD1-492B-A41A-D5EBB3ABCAAC

P356

S10545-011-9370-0

P1433

Journal of Inherited Metabolic Disease

P1476

How to find and diagnose a CDG due to defective N-glycosylation.

@en

P2093

Dirk J Lefeber

http://www.w3.org/2001/XMLSchema#string

Eva Morava

http://www.w3.org/2001/XMLSchema#string

Jaak Jaeken

http://www.w3.org/2001/XMLSchema#string

P2860

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.

Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.

Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.

Congenital disorders of glycosylation.

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

Interference of transferrin isoform types with carbohydrate-deficient transferrin quantification in the identification of alcohol abuse.

Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin.

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome.

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

P2888

s10545-011-9370-0

P304

849-852

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1007/S10545-011-9370-0

http://www.w3.org/2001/XMLSchema#string

P433

4

http://www.w3.org/2001/XMLSchema#string

P478

34

http://www.w3.org/2001/XMLSchema#string

P577

2011-07-08T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

51476881

http://www.w3.org/2001/XMLSchema#string

P6179

1012842750

http://www.w3.org/2001/XMLSchema#string

P698

21739167

http://www.w3.org/2001/XMLSchema#string

P921

P932

3137781

http://www.w3.org/2001/XMLSchema#string