(Q28283648)

3

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Florence Jobard

2

object named as

Florence Jobard

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author name string

Meral Topçu

1

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Turgay Coskun

4

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Cengiz Yalçinkayal

5

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Filiz Ozbas Gerceker

6

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Ronald J A Wanders

7

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Jean-François Prud'homme

8

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Meral Ozguc

10

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Judith Fischer

Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease

11

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language of work or name

English

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publication date

15 November 2004

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published in

Human Molecular Genetics

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volume

13

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issue

22

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page(s)

2803-11

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH300

L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH300

L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH300

L-2-Hydroxyglutaric aciduria: MRI in seven cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH300

Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH300

Chiral liquid chromatography tandem mass spectrometry in the determination of the configuration of 2-hydroxyglutaric acid in urine

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH300

L-2-Hydroxyglutaric Aciduria: Clinical Heterogeneity Versus Biochemical Homogeneity in a Sibship

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH300

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH300

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH300

Mitochondrial diseases in man and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH300

L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH300

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH300

L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?

21 January 2018

1 reference

9 November 2024

https://opencitations.net/index/api/v1/citations/10.1007/BF02312543

Plasma lysine concentration and availability of 2-ketoglutarate in liver mitochondria

1 reference

9 November 2024

https://opencitations.net/index/api/v1/citations/10.1023/A:1015195009330

Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy

1 reference

9 November 2024

https://opencitations.net/index/api/v1/citations/10.1007/BF01799270

Identifiers

DOI

10.1093/HMG/DDH300

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

15385440

1 reference

Consolidated OpenCitations Corpus – April 2017