Fatty acid oxidation disorders: outcome and long-term prognosis (Q37668113)

21 August 2017

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title

Fatty acid oxidation disorders: outcome and long-term prognosis (English)

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21 August 2017

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Bridget Wilcken

1

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21 August 2017

5 January 2010

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Journal of Inherited Metabolic Disease

21 August 2017

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21 August 2017

33

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21 August 2017

5

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21 August 2017

501-506

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https://scigraph.springernature.com/pub.10.1007/s10545-009-9001-1

21 August 2017

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cites work

Medium chain acyl-CoA dehydrogenase deficiency

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12 December 2020

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

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12 December 2020

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

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Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants

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12 December 2020

A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency

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12 December 2020

Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement

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12 December 2020

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein

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12 December 2020

Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency

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12 December 2020

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients

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12 December 2020

Neonatal screening for defects of the mitochondrial trifunctional protein

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12 December 2020

Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency

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12 December 2020

Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.

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12 December 2020

Liver disease in pregnancy and fetal fatty acid oxidation defects

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12 December 2020

More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate

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12 December 2020

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to ?-subunit mutations

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12 December 2020

Disorders of the carnitine cycle and detection by newborn screening

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12 December 2020

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

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12 December 2020

Sudden death in a young woman from medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency.

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12 December 2020

Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.

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12 December 2020

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

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12 December 2020

Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency

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12 December 2020

Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies

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12 December 2020

Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.

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12 December 2020

The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.

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12 December 2020

The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.

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12 December 2020

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.

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12 December 2020

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.

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12 December 2020

10.1007/S10545-009-9001-1

Identifiers

DOI

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release_qk4ywxcugnbvtmpp2mq4ebkjku

21 August 2017

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Fatcat

https://api.fatcat.wiki/v0/release/qk4ywxcugnbvtmpp2mq4ebkjku

24 November 2022

mapped directly with Wikidata item

PubMed ID

20049534

1 reference

PubMed ID

20049534