(Q24633696)

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Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21110228%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

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Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21110228%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

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1

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17 January 2020

author name string

Nico G G M Abeling

2

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17 January 2020

Lodewijk Ijlst

3

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17 January 2020

Hennie Knoester

4

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17 January 2020

W Ludo van der Pol

5

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17 January 2020

Alida E M Stroomer

6

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17 January 2020

Ronald J Wanders

7

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17 January 2020

Gepke Visser

8

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17 January 2020

Frits A Wijburg

9

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17 January 2020

Marinus Duran

10

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17 January 2020

Hans R Waterham

11

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17 January 2020

language of work or name

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publication date

26 November 2010

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17 January 2020

Journal of Inherited Metabolic Disease

1 reference

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17 January 2020

34

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17 January 2020

1

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17 January 2020

159-164

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17 January 2020

https://scigraph.springernature.com/pub.10.1007/s10545-010-9242-z

0 references

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026695

7 April 2017

Brown-Vialetto-Van Laere syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026695

7 April 2017

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026695

7 April 2017

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026695

7 April 2017

Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026695

7 April 2017

Identification and functional characterization of rat riboflavin transporter 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026695

7 April 2017

Organic aciduria in the riboflavin-deficient rat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026695

7 April 2017

Riboflavin (vitamin B-2) and health

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026695

27 September 2017

Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026695

27 September 2017

Mitochondrial fatty acid oxidation defects--remaining challenges.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9242-Z

21 January 2018

Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9242-Z

21 January 2018

D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD)

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9242-Z

21 January 2018

Analysis of riboflavin and riboflavin cofactor levels in plasma by high-performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9242-Z

21 January 2018

New defect in fatty-acid metabolism with hypoglycemia and organic aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/21110228

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/21110228

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/21110228

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-010-9242-Z

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21110228%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Dimensions Publication ID

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21110228%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21110228%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

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