(Q37004711)

17 August 2017

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome (English)

1 reference

17 August 2017

Hélène Ogier de Baulny

8

object named as

Hélène Ogier de Baulny

1 reference

17 August 2017

Carole Harbulot

1

1 reference

17 August 2017

Stéphanie Paquay

2

1 reference

17 August 2017

Imen Dorboz

3

1 reference

17 August 2017

Samia Pichard

4

1 reference

17 August 2017

Agnès Bourillon

5

1 reference

17 August 2017

Jean-François Benoist

6

1 reference

17 August 2017

Claude Jardel

7

1 reference

17 August 2017

Odile Boespflug-Tanguy

9

1 reference

17 August 2017

Manuel Schiff

10

1 reference

17 August 2017

10 March 2016

1 reference

Molecular Genetics and Metabolism Reports

17 August 2017

1 reference

17 August 2017

7

1 reference

17 August 2017

8-10

1 reference

Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908062

The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908062

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908062

Lipid metabolism in mitochondrial membranes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908062

The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908062

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908062

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908062

Renal mitochondrial cytopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908062

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908062

Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908062

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4908062

Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2016.03.001

10.1016/J.YMGMR.2016.03.001

7 January 2021

Identifiers

DOI

1 reference

17 August 2017

1 reference

17 August 2017

1 reference