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Paper Details

Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.
JIMD Reports
14
2017
CPT-II, CPT-II deficiency, CPT-II deficient, CPT2, Carnitine, Carnitine Palmitoyltransferase-II, Carnitine Palmitoyltransferase-II Deficiency, Carnitine palmitoyltransferase-II, Carnitine palmitoyltransferase-II (CPT-II) deficiency, c.338C, diffuse myalgia, fevers, myalgia, myopathic, patient, patients, rhabdomyolysis, upper respiratory infection
Author NameAffiliation
Andrew C EdmondsonThe Children's Hospital of Philadelphia
Andrew C EdmondsonPerelman School of Medicine at the University of Pennsylvania and the Children's Hospital of Philadelphia
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Datasets

Release 1.2