(Q46464181)

22 December 2017

title

Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation (English)

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22 December 2017

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author name string

A Michele Schuler

1

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22 December 2017

Barbara A Gower

2

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22 December 2017

Dietrich Matern

3

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22 December 2017

Piero Rinaldo

4

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22 December 2017

Philip A Wood

6

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publication date

16 February 2005

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22 December 2017

Molecular Genetics and Metabolism

published in

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22 December 2017

volume

85

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22 December 2017

page(s)

7-11

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issue

1

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Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

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Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse

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Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations

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Clinical and biochemical features of fatty acid oxidation disorders

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Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years

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The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

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The changing face of disorders of fatty acid oxidation

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A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene

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Tissue-specific insulin resistance in mice with mutations in the insulin receptor, IRS-1, and IRS-2.

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Identifiers

DOI

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22 December 2017

PubMed ID

15862275

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22 December 2017