(Q72746230)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6207379%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

Glutaric aciduria type II: biochemical investigation and treatment of a child diagnosed prenatally (English)

1 reference

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28 October 2019

1 reference

M J Bennett

1

1 reference

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28 October 2019

D A Curnock

2

1 reference

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28 October 2019

P C Engel

3

1 reference

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28 October 2019

L Shaw

4

1 reference

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28 October 2019

R G Gray

5

1 reference

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28 October 2019

D Hull

6

1 reference

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28 October 2019

A D Patrick

7

1 reference

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28 October 2019

R J Pollitt

8

1 reference

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28 October 2019

publication date

1 January 1984

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6207379%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

28 October 2019

published in

1 reference

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28 October 2019

volume

7

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28 October 2019

issue

2

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28 October 2019

page(s)

57-61

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Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide.

28 October 2019

cites work

1 reference

12 December 2020

Glutaric aciduria type II: in vitro studies on substrate oxidation, acyl-CoA dehydrogenases, and electron-transferring flavoprotein in cultured skin fibroblasts

1 reference

12 December 2020

An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis

1 reference

12 December 2020

Glutaric aciduria Type II

1 reference

12 December 2020

The purification and properties of ox liver short-chain acyl-CoA dehydrogenase

1 reference

12 December 2020

Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation

1 reference

12 December 2020

A defect in pyruvate decarboxylase in a child with an intermittent movement disorder

1 reference

12 December 2020

Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II

1 reference

12 December 2020

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis

1 reference

12 December 2020

Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein

1 reference

12 December 2020

Neonatal glutaric aciduria type II: an X-linked recessive inherited disorder

1 reference

12 December 2020

Antenatal diagnosis of glutaricaciduria type II

1 reference

12 December 2020

Glutaric acidemia type II: a form with deleterious intrauterine effects

1 reference

12 December 2020

Diagnosis of organic acidemias by gas chromatography--mass spectrometry

1 reference

12 December 2020

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

12 December 2020

Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency)

1 reference

12 December 2020

Kinetic and equilibrium studies on crystalline 1-glutamic acid dehydrogenase

1 reference

12 December 2020

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings

1 reference

12 December 2020

Glutaric aciduria type II: Report on a previously undescribed metabolic disorder

1 reference

12 December 2020

Glutaric acidemia type II: clinical, biochemical, and morphologic considerations

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01805802

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6207379%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

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