L-2-hydroxyglutaric aciduria in two siblings (Q44126801)

30 November 2017

L-2-hydroxyglutaric aciduria in two siblings (English)

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L-2-hydroxyglutaric aciduria

30 November 2017

1 reference

1 reference

László Sztriha

1

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30 November 2017

Aithala Gururaj

2

1 reference

30 November 2017

Peter Vreken

3

1 reference

30 November 2017

Michael Nork

4

1 reference

30 November 2017

Gilles Lestringant

5

1 reference

30 November 2017

1 August 2002

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30 November 2017

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30 November 2017

27

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30 November 2017

2

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30 November 2017

141-144

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

30 November 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2802%2900405-8

7 January 2021

L-2-hydroxyglutaric acidemia: A novel inherited neurometabolic disease

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2802%2900405-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2802%2900405-8

7 January 2021

L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2802%2900405-8

7 January 2021

L-2-Hydroxyglutaric aciduria: MRI in seven cases.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2802%2900405-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2802%2900405-8

7 January 2021

L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2802%2900405-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2802%2900405-8

7 January 2021

Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2802%2900405-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2802%2900405-8

7 January 2021

Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2802%2900405-8

7 January 2021

[Set of instruments for the nasopharynx and nasopharyngeal passages]

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2802%2900405-8

7 January 2021

Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2802%2900405-8

7 January 2021

L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2802%2900405-8

7 January 2021

10.1016/S0887-8994(02)00405-8

Identifiers

DOI

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30 November 2017

1 reference