(Q55452518)

11 July 2018

case report

0 references

title

Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report. (English)

1 reference

11 July 2018

arthrogryposis–renal dysfunction–cholestasis syndrome

main subject

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Paul Gissen

3

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author name string

Alejandra Rosales

1

1 reference

11 July 2018

Maissa Mhibik

2

1 reference

11 July 2018

Oscar Segarra

4

1 reference

11 July 2018

Susana Redecillas

5

1 reference

11 July 2018

Gema Ariceta

6

1 reference

11 July 2018

publication date

15 June 2018

1 reference

11 July 2018

published in

BMC Nephrology

1 reference

11 July 2018

volume

19

1 reference

11 July 2018

issue

1

1 reference

11 July 2018

page(s)

144

1 reference

11 July 2018

Creative Commons Attribution 4.0 International

copyright license

start time

15 June 2018

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s12882-018-0926-1

0 references

cites work

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6003143

VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6003143

Renal Fanconi syndrome: taking a proximal look at the nephron

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6003143

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

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6003143

Advances in our understanding of the molecular basis of disorders of platelet function

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6003143

Orthopaedic manifestations of arthrogryposis-renal dysfunction-cholestasis syndrome.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6003143

The effect of plasma low density lipoprotein apheresis on the hepatic secretion of biliary lipids in humans

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6003143

Improvement of refractory pruritus after lipoprotein-apheresis in arthrogryposis-renal failure-cholestasis syndrome.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6003143

Liver transplant in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome with severe intractable pruritus.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6003143

Clinical and molecular genetic features of ARC syndrome

12 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29907094

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12882-018-0926-1

1 reference

11 July 2018

Dimensions Publication ID

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/s12882-018-0926-1

Fatcat ID

release_jra3rtxldrejfffi6nz2g2ykre

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/jra3rtxldrejfffi6nz2g2ykre

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

6003143

1 reference

11 July 2018

PubMed ID

29907094

1 reference

11 July 2018