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Publications Authored by Lauren Lulis | PubFacts
Lauren Lulis

Lauren Lulis

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Lauren Lulis

Publications by authors named "Lauren Lulis"

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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) Deficiency.

Int J Neonatal Screen 2017 Jun 28;3(2). Epub 2017 Apr 28.

Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, 19104 PA, USA.

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http://dx.doi.org/10.3390/ijns3020010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5523953PMC
June 2017

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

J Med Genet 2015 Sep 16;52(9):627-35. Epub 2015 Jul 16.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103140DOI Listing
September 2015