Genetics: newborn screening for MCAD deficiency
JC Carroll, CA Gibbons, SM Blaine… - Canadian Family …, 2009 - ncbi.nlm.nih.gov
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive fatty
acid oxidation disorder, with an incidence rate of up to 1 in 12 000. Early diagnosis and …
acid oxidation disorder, with an incidence rate of up to 1 in 12 000. Early diagnosis and …
Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State
GL Arnold, CA Saavedra-Matiz… - Molecular genetics and …, 2010 - Elsevier
Introduction: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most
common inborn errors of metabolism. Affected patients have impaired ability to break down …
common inborn errors of metabolism. Affected patients have impaired ability to break down …
Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency: the case for screening all newborns.
VN Alluri, JJ Mulvihill - The Journal of the Oklahoma State Medical …, 2002 - europepmc.org
Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency is the most common
inborn error of fatty acid oxidation with a frequency of 1 in 12,000, an estimated four new …
inborn error of fatty acid oxidation with a frequency of 1 in 12,000, an estimated four new …
[HTML][HTML] The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update
The most common fatty acid oxidation disorder, medium chain acyl-CoA dehydrogenase
deficiency (MCADD), has become the focal point for the adoption of tandem mass …
deficiency (MCADD), has become the focal point for the adoption of tandem mass …
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies
K Carpenter, V Wiley, KG Sim, D Heath… - Archives of Disease in …, 2001 - fn.bmj.com
OBJECTIVE To evaluate newborn screening by tandem mass spectrometry for detection of
medium chain acyl-CoA dehydrogenase (MCAD) deficiency, a fatty acid oxidation disorder …
medium chain acyl-CoA dehydrogenase (MCAD) deficiency, a fatty acid oxidation disorder …
Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management
F Feillet, H Ogier, D Cheillan, C Aquaviva… - Archives de pediatrie …, 2012 - europepmc.org
MCAD deficiency is the most common fatty acid oxidation disorder, with the prevalence
varying from 1/10,000 to 1/27,000 in the countries adjacent to France. As the High Authority …
varying from 1/10,000 to 1/27,000 in the countries adjacent to France. As the High Authority …
DNA analysis for detection of medium-chain acyl-CoA dehydrogenase deficiency in a Manitoba newborn population
JR Thompson, D Manchur, C Gregory, L Dilling… - Screening, 1995 - Elsevier
Introduction: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, the most frequent
disorder of fatty acid β-oxidation, can cause episodic hypoglycemia, Reye-like …
disorder of fatty acid β-oxidation, can cause episodic hypoglycemia, Reye-like …
MCAD deficiency in Denmark
BS Andresen, AM Lund, DM Hougaard… - Molecular genetics and …, 2012 - Elsevier
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common defect of
fatty acid oxidation. Many countries have introduced newborn screening for MCADD …
fatty acid oxidation. Many countries have introduced newborn screening for MCADD …
[PDF][PDF] Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in …
BS Andresen, SF Dobrowolski, L O'Reilly… - The American Journal of …, 2001 - cell.com
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most frequently
diagnosed mitochondrial β-oxidation defect, and it is potentially fatal. Eighty percent of …
diagnosed mitochondrial β-oxidation defect, and it is potentially fatal. Eighty percent of …
Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada
GA Horvath, AGF Davidson… - Canadian journal of …, 2008 - Springer
Abstract Background Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency is an
autosomal recessive disorder of fatty acid oxidation, with potential fatal outcome. MCAD …
autosomal recessive disorder of fatty acid oxidation, with potential fatal outcome. MCAD …
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