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Evgenia Sklirou

Assistant Professor of Pediatrics · UPMC Medical Education

Credentials: · · · ·

History

UPMC Medical Education · Univ of Pittsburgh Sch of Med
Present

Medical Biochemical Genetics
UPMC Children's Hospital of Pittsburgh
2017–2018
Medical Genetics and Genomics
UPMC Children's Hospital of Pittsburgh
2015–2017
"Aglaia & P Kyriakou" Children's Hospital
2007–2010
NAT'L UNIV OF ATHENS, ATHENS
1995–1999

Research

Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders
Frontiers in Genetics · 2020 · First of 5 authors · 37 citations
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
Genetics in Medicine · 2021 · 26 citations
Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome
Case report · Molecular Genetics & Genomic Medicine · 2020 · 19 citations

Clinical trials

Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
Sub-investigator · Recruiting
Icahn School of Medicine at Mount Sinai
2019–2030