(Q28258358)

6

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author name string

A B Burlina

1

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M J Bennett

3

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K M Gibson

4

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S Servidei

5

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D E Hale

7

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E Schmidt-Sommerfeld

8

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G Sabetta

9

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F Zacchello

The Journal of Pediatrics

10

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language of work or name

English

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publication date

January 1994

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published in

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volume

124

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issue

1

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page(s)

79-86

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cites work

Fatty acid oxidation disorders: A new class of metabolic diseases

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Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines

7 January 2021

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Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases

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Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolites

7 January 2021

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Muscle cytochromec oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl‐CoA dehydrogenase deficiency

7 January 2021

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Ethylmalonic aciduria associated with progressive neurological disease and partial cytochromec oxidase deficiency

7 January 2021

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The urinary excretion of ethylmalonic acid: What level requires further attention?

7 January 2021

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Carnitine ester excretion in pediatric patients receiving parenteral nutrition

7 January 2021

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

7 January 2021

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Cytochrome c oxidase deficiency in Leigh syndrome

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The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect

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New clinical phenotype of branched-chain acyl-CoA oxidation defect

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Cytochrome c oxidase deficiency

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Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase

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Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculations

7 January 2021

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MELAS of infantile onset: mitochondrial angiopathy or cytopathy?

7 January 2021

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Sudden infant death associated with defective oxidative phosphorylation

7 January 2021

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3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects

7 January 2021

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Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria

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Secondary inhibition of multiple NAD‐requiring dehydrogenases in respiratory chain complex I deficiency: Possible metabolic markers for the primary defect

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