(Q44203821)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22350545%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

Clinical variability of isovaleric acidemia in a genetically homogeneous population (English)

1 reference

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23 January 2020

1 reference

4

1 reference

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23 January 2020

author name string

M Dercksen

1

1 reference

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23 January 2020

M Duran

2

1 reference

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23 January 2020

L Ijlst

3

1 reference

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23 January 2020

C J Reinecke

5

1 reference

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23 January 2020

J P N Ruiter

6

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23 January 2020

H R Waterham

7

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23 January 2020

R J A Wanders

8

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23 January 2020

publication date

17 February 2012

1 reference

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Journal of Inherited Metabolic Disease

23 January 2020

published in

1 reference

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23 January 2020

volume

35

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23 January 2020

issue

6

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23 January 2020

page(s)

1021-1029

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

23 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

Two sistes with isovaleric acidaemia, multiple attacks of ketoacidosis and normal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

Therapeutic Effects of Glycine in Isovaleric Acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

Identification of 19 new metabolites induced by abnormal amino acid conjugation in isovaleric acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

Validation of an ESI-MS/MS screening method for acylcarnitine profiling in urine specimens of neonates, children, adolescents and adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

Measurement of protein using bicinchoninic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

Genetics, medicine, and the Plain people

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

Carnitine deficiency, organic acidemias, and Reye's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

Isovaleric acidemia: a new genetic defect of leucine metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9457-2

The response to L-carnitine and glycine therapy in isovaleric acidaemia

21 January 2018

1 reference

12 December 2020

Separation and properties of five distinct acyl-CoA dehydrogenases from rat liver mitochondria. Identification of a new 2-methyl branched chain acyl-CoA dehydrogenase

1 reference

12 December 2020

Isovaleric acidaemia presenting with dwarfism, cataract and congenital abnormalities

1 reference

12 December 2020

Glycine therapy in isovaleric acidemia

1 reference

12 December 2020

Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia

1 reference

12 December 2020

Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry

1 reference

12 December 2020

10.1007/S10545-012-9457-2

Identifiers

DOI

1 reference

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23 January 2020

1 reference