(Q42536665)

1 November 2017

D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? (English)

1 reference

D-2-hydroxyglutaric aciduria

1 November 2017

1 reference

van der Knaap MS

1

1 reference

1 November 2017

Jakobs C

2

1 reference

1 November 2017

Hoffmann GF

3

1 reference

1 November 2017

Nyhan WL

4

1 reference

1 November 2017

Renier WO

5

1 reference

1 November 2017

Smeitink JA

6

1 reference

1 November 2017

Catsman-Berrevoets CE

7

1 reference

1 November 2017

Hjalmarson O

8

1 reference

1 November 2017

Vallance H

9

1 reference

1 November 2017

Sugita K

10

1 reference

1 November 2017

Bowe CM

11

1 reference

1 November 2017

Herrin JT

12

1 reference

1 November 2017

Craigen WJ

13

1 reference

1 November 2017

Buist NR

14

1 reference

1 November 2017

Brookfield DS

15

1 reference

1 November 2017

Chalmers RA

16

1 reference

1 November 2017

1 January 1999

1 reference

1 November 2017

1 reference

1 November 2017

45

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1 November 2017

111-119

1 reference

1 November 2017

1

1 reference

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

1 November 2017

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

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/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

D-2-hydroxyglutaric aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

2-Hydroxyglutaric aciduria: a case report on an infant with the D-isomeric form with review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

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/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

Stable isotope dilution analysis of GABA in CSF using simple solvent extraction and electron-capture negative-ion mass fragmentography.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

Multiple syndromes of 3-methylglutaconic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate‐deficient glycoprotein syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

Normal maturation of the neonatal and infant brain: MR imaging at 1.5 T.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

Normal gyration and sulcation in preterm and term neonates: appearance on MR images.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

The open opercular sign: diagnosis and significance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

Cranial MRI and MR angiography in Menkes' syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

Magnetic resonance imaging in lactic acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

Subependymal pseudocysts: ultrasound diagnosis and findings at follow-up.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

Sub-Ependymal Pseudo-Cysts in the Newborn

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

Subependymal germinolysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

The reversible dehydration of (R)-2-hydroxyglutarate to (E)-glutaconate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

A novel alpha-ketoglutarate reductase activity of the serA-encoded 3-phosphoglycerate dehydrogenase of Escherichia coli K-12 and its possible implications for human 2-hydroxyglutaric aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

Cloning, sequencing and expression of rat liver 3-phosphoglycerate dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

D-2-hydroxyglutaric acidaemia: identification of a new enzyme, D-2-hydroxyglutarate dehydrogenase, localized in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C111%3A%3AAID-ART17%3E3.0.CO%3B2-N

10.1002/1531-8249(199901)45:1<111::AID-ART17>3.0.CO;2-N

21 January 2018

Identifiers

DOI

1 reference

1 November 2017

1 reference