about
SPE-39 family proteins interact with the HOPS complex and function in lysosomal deliveryMutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndromeArthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical featuresNeonatal Cholestasis - Differential Diagnoses, Current Diagnostic Procedures, and TreatmentCurrent Strategies in Diagnosis of Inherited Storage Pool DefectsInherited platelet disorders: a clinical approach to diagnosis and management.Clinical challenge in hepatologyMetazoan cell biology of the HOPS tethering complexGenetics of familial intrahepatic cholestasis syndromes.Liver biopsy complicated by hemorrhage in a patient with ARC syndrome.Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis.The Role of Platelets and ε-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated HemorrhageZebrafish models of human liver development and diseaseTwo novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China.ARC syndrome with high GGT cholestasis caused by VPS33B mutations.Inherited secondary nephrogenic diabetes insipidus: concentrating on humans.Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.ARC syndrome in preterm baby.
P2860
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P2860
description
2001 nî lūn-bûn
@nan
2001 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
ARC syndrome: an expanding range of phenotypes.
@ast
ARC syndrome: an expanding range of phenotypes.
@en
ARC syndrome: an expanding range of phenotypes.
@nl
type
label
ARC syndrome: an expanding range of phenotypes.
@ast
ARC syndrome: an expanding range of phenotypes.
@en
ARC syndrome: an expanding range of phenotypes.
@nl
prefLabel
ARC syndrome: an expanding range of phenotypes.
@ast
ARC syndrome: an expanding range of phenotypes.
@en
ARC syndrome: an expanding range of phenotypes.
@nl
P2093
P356
P1476
ARC syndrome: an expanding range of phenotypes.
@en
P2093
Eastham KM
McKiernan PJ
Milford DV
van't Hoff W
P304
P356
10.1136/ADC.85.5.415
P407
P577
2001-11-01T00:00:00Z