(Q48819432)

15 February 2018

title

D-2-hydroxyglutaric aciduria: hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscle. (English)

1 reference

15 February 2018

D-2-hydroxyglutaric aciduria

main subject

1 reference

1 reference

1 reference

N S Baker

1

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15 February 2018

H B Sarnat

2

1 reference

15 February 2018

R M Jack

3

1 reference

15 February 2018

K Patterson

4

1 reference

15 February 2018

D W Shaw

5

1 reference

15 February 2018

S P Herndon

6

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15 February 2018

publication date

1 January 1997

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15 February 2018

Journal of Child Neurology

published in

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15 February 2018

volume

12

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15 February 2018

page(s)

31-36

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15 February 2018

issue

1

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15 February 2018

D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?

cites work

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200105

D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200105

D-2-hydroxyglutaric aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200105

Clinical and MRI findings in a case of D-2-hydroxyglutaric aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200105

Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200105

Cylindrical spirals in human skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200105

Cylindrical spirals in a familial neuromuscular disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200105

Tubular aggregates in type II muscle fibers: Ultrastructural and histochemical correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200105

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/10.1177%2F088307389701200105

Demonstration of 4-aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblasts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200105

Inherited disorders of GABA metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200105

Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200105

10.1177/088307389701200105

21 January 2018

Identifiers

DOI

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15 February 2018

PubMed ID

9010793

1 reference

15 February 2018