(Q21202955)

hyperlipoproteinemia type IV

18154657

title

Alstrom syndrome (OMIM 203800): a case report and literature review (English)

0 references

2 references

21 October 2019

6 November 2020

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21 October 2019

6 November 2020

3 references

21 October 2019

6 November 2020

4 February 2021

2 references

14 September 2019

6 November 2020

single-nucleotide polymorphism

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18154657

protein

1 reference

1 reference

Valentine Charlton-Menys

series ordinal

5

object named as

Valentine Charlton-Menys

author given names

Valentine

author last names

Charlton-Menys

1 reference

18 August 2022

4

Rayaz Malik

Rayaz

Malik

1 reference

18 August 2022

3

Graeme Black

Graeme

Black

1 reference

18 August 2022

6

Robert A Hegele

Robert A

Hegele

1 reference

18 August 2022

Tisha Joy

1

Tisha

Joy

1 reference

18 August 2022

Henian Cao

series ordinal

2

author given names

Henian

author last names

Cao

1 reference

18 August 2022

Paul N Durrington

series ordinal

7

author given names

Paul N

author last names

Durrington

1 reference

Orphanet Journal of Rare Diseases

18 August 2022

language of work or name

English

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publication date

21 December 2007

13 references

13 March 2019

14 March 2019

24 March 2019

22 April 2019

25 April 2019

20 June 2019

19 June 2019

30 June 2019

8 August 2019

14 September 2019

21 October 2019

6 November 2020

4 February 2021

13 references

13 March 2019

14 March 2019

24 March 2019

22 April 2019

25 April 2019

20 June 2019

19 June 2019

30 June 2019

8 August 2019

14 September 2019

21 October 2019

6 November 2020

4 February 2021

2

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issue

1

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page(s)

49

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copyright license

Creative Commons Attribution 2.0 Generic

13 references

13 March 2019

14 March 2019

24 March 2019

22 April 2019

25 April 2019

20 June 2019

19 June 2019

30 June 2019

8 August 2019

14 September 2019

21 October 2019

6 November 2020

on focus list of Wikimedia project

4 February 2021

copyright status

copyrighted

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ScienceSource

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cites work

A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Hypertriglyceridaemia in Alström's syndrome: causes and associations in 37 cases

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Three new cases of Alström syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Refsum disease, peroxisomes and phytanic acid oxidation: a review

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Growth hormone deficiency in two siblings with Alström syndrome.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Hepatic dysfunction in two sibs with Alström syndrome: case report and review of the literature

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Alström syndrome. Report of 22 cases and literature review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

The Alström syndrome. Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Exudative retinopathy in a girl with Alström syndrome due to a novel mutation

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Characterization of the IGF system in 15 patients with Alström syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Alstrom syndrome in four sibs from northern Jordan

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

New Alström syndrome phenotypes based on the evaluation of 182 cases

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Alström syndrome with acute pancreatitis: a case report

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

A rare case of Alström syndrome presenting with rapidly progressive severe dilated cardiomyopathy diagnosed by echocardiography

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Evaluation of insulin resistant diabetes mellitus in Alström syndrome: a long-term prospective follow-up of three siblings

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Alstrom syndrome: a case report.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Ophthalmologic and systemic features of the Alström syndrome: report of 9 cases.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Early-onset liver disease complicated with acute liver failure in Alstrom syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Alstrom syndrome in two siblings.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Alstrom syndrome with hepatic dysfunction: report of one case

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Acute lymphoblastic leukemia in one of two siblings with Alstrom syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Alström syndrome: a case misdiagnosed as Bardet-Biedl syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266715

Case of Alström syndrome with late presentation dilated cardiomyopathy

29 November 2018

1 reference

12 December 2020

Hepatic dysfunction in Alström disease

1 reference

12 December 2020

A 27-year-old woman with Alström syndrome who had liver cirrhosis

1 reference

12 December 2020

Impaired glucose tolerance leads to delayed diagnosis of Alström syndrome

1 reference

12 December 2020

A case of Alström syndrome associated with diabetes insipidus

1 reference

12 December 2020

Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs

1 reference

12 December 2020

Alström syndrome: progressive deafness and blindness

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-2-49

0 references

0 references

PMC publication ID

2266715

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