(Q46589265)

23 December 2017

title

L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death (English)

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23 December 2017

L-2-hydroxyglutaric aciduria

1 reference

1 reference

E Chen

1

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23 December 2017

W L Nyhan

2

1 reference

23 December 2017

C Jakobs

3

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23 December 2017

C M Greco

4

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23 December 2017

A J Barkovich

5

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23 December 2017

V A Cox

6

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23 December 2017

S Packman

7

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23 December 2017

publication date

1 January 1996

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23 December 2017

Journal of Inherited Metabolic Disease

published in

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23 December 2017

volume

19

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23 December 2017

issue

3

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23 December 2017

page(s)

335-343

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23 December 2017

https://scigraph.springernature.com/pub.10.1007/bf01799264

exact match

0 references

cites work

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799264

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799264

L-2-hydroxyglutaric aciduria: two further cases

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric acidemia.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Systemic deficiency of the first component of the pyruvate dehydrogenase complex.

1 reference

12 December 2020

Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis

1 reference

12 December 2020

Acute profound dystonia in infants with glutaric acidemia.

1 reference

12 December 2020

Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts

1 reference

12 December 2020

Pyruvate Carboxylase and Phosphoenolpyruvate Carboxykinase Activity in Leukocytes and Fibroblasts from a Patient with Pyruvate Carboxylase Deficiency

1 reference

12 December 2020

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

12 December 2020

MELAS: clinical features, biochemistry, and molecular genetics

1 reference

12 December 2020

L-2-hydroxyglutaric aciduria: three Australian cases

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799264

1 reference

23 December 2017

PubMed ID

8803777

1 reference

23 December 2017