(Q36315260)

13 August 2017

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Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome (English)

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Brown-Vialetto-Van Laere syndrome

13 August 2017

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14

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13 August 2017

Atsushi Yonezawa

15

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Johannes A Mayr

object named as

Johannes A Mayr

9

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Holger Prokisch

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Holger Prokisch

16

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Tobias B Haack

1

object named as

Tobias B Haack

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13 August 2017

6

Thomas Wieland

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13 August 2017

13

Tim M Strom

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13 August 2017

10

Peter Freisinger

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13 August 2017

8

Uwe Ahting

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13 August 2017

5

Maja Hempel

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13 August 2017

2

Christine Makowski

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13 August 2017

Yoshiaki Yao

3

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13 August 2017

Elisabeth Graf

4

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13 August 2017

Ulrike Tauer

7

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13 August 2017

Hiroki Yoshimatsu

11

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13 August 2017

Ken Inui

12

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13 August 2017

3 August 2012

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Journal of Inherited Metabolic Disease

13 August 2017

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13 August 2017

35

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13 August 2017

6

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13 August 2017

943-948

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https://scigraph.springernature.com/pub.10.1007/s10545-012-9513-y

13 August 2017

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cites work

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470687

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470687

Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470687

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470687

Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470687

Brown-Vialetto-Van Laere syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470687

Current perspectives on the cellular uptake and trafficking of riboflavin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470687

Organic aciduria in the riboflavin-deficient rat

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470687

Incorporation of peripherally administered riboflavine into flavine nucleotides in the brain.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470687

Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470687

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470687

Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470687

10.1007/S10545-012-9513-Y

22 September 2018

Identifiers

DOI

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13 August 2017

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13 August 2017

PubMed publication ID

22864630

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