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Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficie...
by
Leah
Dowsett
,
Lauren Lulis
,
Can Ficicioglu
,
Sanmati Cuddapah
Published in
International Journal of Neonatal Screening
(2017)
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Related Subjects
Ashkenazi Jewish
CPT1A
carnitine palmitoyltransferase deficiency
elevated liver transaminases
fatty acid oxidation disorders
neonatal screening
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