Isovaleric acidemia: medical and neurodevelopmental effects of long-term therapy (Q44291638)

1 December 2017

Isovaleric acidemia: medical and neurodevelopmental effects of long-term therapy (English)

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1 December 2017

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1

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1 December 2017

Yudkoff M

2

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PubMed ID

3385530

1 December 2017

Segal S

series ordinal

3

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PubMed ID

3385530

1 December 2017

language of work or name

English

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publication date

1 July 1988

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The Journal of Pediatrics

1 December 2017

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1 December 2017

113

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1 December 2017

58-64

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1 December 2017

1 Pt 1

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Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia

1 December 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980528-6

Glycine therapy in isovaleric acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980528-6

Isovaleric acidemia: use of glycine therapy in neonates

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980528-6

Isotachophoretic analysis of isovalerylglycine in urine of a patient with isovaleric acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980528-6

Glycine in acute management of isovalericacidaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980528-6

Cerebellar hemorrhage complicating isovaleric acidemia: a case report

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980528-6

Changing plasma and urinary organic acid levels in a patient with isovaleric acidemia during an attack

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980528-6

Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980528-6

L-carnitine therapy in isovaleric acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980528-6

Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980528-6

Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980528-6

Therapeutic Effects of Glycine in Isovaleric Acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980528-6

Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980528-6

Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980528-6

Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980528-6

Kinetic compartmental analysis of carnitine metabolism in the human carnitine deficiency syndromes. Evidence for alterations in tissue carnitine transport

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2888%2980528-6

10.1016/S0022-3476(88)80528-6

7 January 2021

Identifiers

DOI

1 reference

1 December 2017

1 reference

PubMed ID

3385530