(Q37612969)

21 August 2017

1 reference

title

Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). (English)

1 reference

medium chain acyl-CoA dehydrogenase deficiency

21 August 2017

0 references

author name string

T F Lang

series ordinal

1

1 reference

21 August 2017

11 October 2009

1 reference

Journal of Inherited Metabolic Disease

21 August 2017

1 reference

21 August 2017

32

1 reference

21 August 2017

675-683

1 reference

21 August 2017

6

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-009-1202-0

21 August 2017

0 references

cites work

Role of diet and fuel overabundance in the development and progression of heart failure

1 reference

12 December 2020

Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Features of carnitine palmitoyltransferase type I deficiency

1 reference

12 December 2020

Medium chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.

1 reference

12 December 2020

Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy

1 reference

12 December 2020

Newborn screening for medium chain acyl CoA dehydrogenase deficiency

1 reference

12 December 2020

Newborn screening in the Asia Pacific region

1 reference

12 December 2020

Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father

1 reference

12 December 2020

Disorders of carnitine transport and the carnitine cycle

1 reference

12 December 2020

Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: a review

1 reference

12 December 2020

Arrhythmias following infusions of fatty acids

1 reference

12 December 2020

Oxidative stress induction by cis-4-decenoic acid: relevance for MCAD deficiency.

1 reference

12 December 2020

L-Carnitine prevents mitochondrial damage induced by octanoic acid in the rat choroid plexus.

1 reference

12 December 2020

Cellular uncoupling induced by accumulation of long-chain acylcarnitine during ischemia

1 reference

12 December 2020

Common MCAD mutation in a healthy parent of two affected siblings

1 reference

12 December 2020

Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants

1 reference

12 December 2020

Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency

1 reference

12 December 2020

Newborn screening: experiences in the Middle East and North Africa

1 reference

12 December 2020

Newborn screening in Latin America at the beginning of the 21st century

1 reference

12 December 2020

Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity

1 reference

12 December 2020

Sudden death beyond SIDS

1 reference

12 December 2020

Adult presentation of MCAD deficiency revealed by coma and severe arrythmias

1 reference

12 December 2020

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

1 reference

12 December 2020

Liver disease in pregnancy and fetal fatty acid oxidation defects

1 reference

12 December 2020

Expanded newborn screening in Europe 2007

1 reference

12 December 2020

Sudden cardiac death: the lost fatty acid hypothesis

1 reference

12 December 2020

Disorders of mitochondrial fatty acyl-CoA beta-oxidation

1 reference

12 December 2020

[Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme]

1 reference

12 December 2020

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

1 reference

12 December 2020

Anesthetic considerations for a patient with compound heterozygous medium-chain Acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Characterization of altered myocardial fatty acid metabolism in patients with inherited cardiomyopathy

1 reference

12 December 2020

Acute liver failure in pregnancy associated with maternal MCAD deficiency

1 reference

12 December 2020

Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence

1 reference

12 December 2020

Alcohol-induced steatosis in liver cells

1 reference

12 December 2020

Regional variations in medium-chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children

1 reference

12 December 2020

1. Fatty liver and non-alcoholic steatohepatitis

1 reference

12 December 2020

Fetal fatty acid oxidation defects and maternal liver disease in pregnancy

1 reference

12 December 2020

Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels

1 reference

12 December 2020

Late presentation of medium-chain acyl-CoA dehydrogenase deficiency.

1 reference

12 December 2020

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

1 reference

12 December 2020

Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency

1 reference

12 December 2020

Newborn screening in North America.

1 reference

12 December 2020

Medium-chain acyl-CoA dehydrogenase deficiency: sudden and unexpected death of a 45 year old woman.

1 reference

12 December 2020

10.1007/S10545-009-1202-0

Identifiers

DOI

1 reference

21 August 2017

1 reference

PubMed ID

19821147