ARC syndrome with high GGT cholestasis caused by VPS33B mutations. - Wikidata - wikimedia - TriplyDB

ARC syndrome with high GGT cholestasis caused by VPS33B mutations.

ARC syndrome with high GGT cholestasis caused by VPS33B mutations.

http://www.wikidata.org/entity/Q37724726

about

ARC syndrome with high GGT cholestasis caused by VPS33B mutations.

http://www.wikidata.org/entity/Q37724726

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on April 2014

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

ARC syndrome with high GGT cholestasis caused by VPS33B mutations.

@en

ARC syndrome with high GGT cholestasis caused by VPS33B mutations.

@nl

type

label

ARC syndrome with high GGT cholestasis caused by VPS33B mutations.

@en

ARC syndrome with high GGT cholestasis caused by VPS33B mutations.

@nl

prefLabel

ARC syndrome with high GGT cholestasis caused by VPS33B mutations.

@en

ARC syndrome with high GGT cholestasis caused by VPS33B mutations.

@nl

P1433

Q37724726-DF8ACDB2-C10B-41FD-BCA9-7F4CF9C051A1

P1476

Q37724726-B60B3643-F00A-4F8C-89C2-1136B2FC80FB

P2093

Q37724726-2AFD0DEA-92AF-4100-B398-2C57CB1096C0

Q37724726-DAFC645F-D252-4C0D-84A3-1AC7D61A4EBF

P2860

Q37724726-0B80638A-17C3-4908-9C1F-729615F02CD3

Q37724726-1151DA7D-0516-4D25-B1E6-F209E9D038EF

Q37724726-1E176CFB-350C-4BD2-9D22-DC1D95FDC9B5

Q37724726-2D616CA3-D45A-412F-B785-B9FE579B4C2D

Q37724726-31264C00-7B05-4393-ADBC-4EE6926B5E2E

Q37724726-36FEA4EA-C7FF-4803-AEC4-91507BD9F2C7

Q37724726-37A8B140-0137-4C37-8E08-3EEBF732424C

Q37724726-382C5AA7-2917-4393-91A0-DDCF6BEB390D

Q37724726-4FB9D31E-E711-4AD0-8B47-45196F31E295

Q37724726-80E65B74-D322-4DE8-8A52-444B82ED0F09

P304

Q37724726-5BFA5F22-7547-46ED-AEA6-0395C397B1D9

P31

Q37724726-5572e7be-b7ca-48d2-8ac8-5168d081e644

Q37724726-976AF198-C7A1-482C-8FD2-D8E608D1A4B0

P356

Q37724726-670C5459-8B09-4CC6-81F5-89DF2A9ACB4A

P407

Q37724726-684FA811-8D9C-4A10-97A9-5E1DBE6F02CF

P433

Q37724726-7552BE0D-C70D-413A-9D6E-BFB9FE714A43

P478

Q37724726-17FDB94F-1ED1-4FFF-9B73-AE32AE69B01D

P50

Q37724726-6FC8BD90-5C8B-4AD2-9B8C-90D5F5B781D1

P577

Q37724726-B2F0E57F-A210-4789-9CCA-6F4D4A5BBD83

P698

Q37724726-E0FEB5E1-B766-44B8-8125-803984759656

P932

Q37724726-E96D220F-EBEE-4242-B2DA-F68ED03C85EB

P356

WJG.V20.I16.4830

P1433

World Journal of Gastroenterology

P1476

ARC syndrome with high GGT cholestasis caused by VPS33B mutations.

@en

P2093

Jing Zhao

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

Li-Ting Li

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

P2860

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review.

Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.

Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families.

ARC syndrome: an expanding range of phenotypes.

Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings.

Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis.

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report.

P304

4830-4834

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

P31

scholarly article

P356

10.3748/WJG.V20.I16.4830

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

P407

P433

16

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

P478

20

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

P50

P577

2014-04-01T00:00:00Z

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

P698

24782640

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

P932

4000524

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