Paternal isodisomy of chromosome 2 as a
β
Berivan Baskin; Michael Geraghty; Peter N. Ray
π
Article
π
2010
π
John Wiley and Sons
π
English
β 148 KB
π 1 views
## Abstract Longβchain 3βhydroxyacylβCoA dehydrogenase deficiency is an autosomal recessive disorder affecting mitochondrial fatty acid oxidation due to mutations in the __HADHA__ gene. We report on a 22βmonthβold child who was identified on expanded newborn screening with an abnormal acylcarnitine