Lori-Anne Schillaci

Lori-Anne Schillaci

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Lori-Anne Schillaci

Lori-Anne Schillaci

Publications by authors named "Lori-Anne Schillaci"

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Life-threatening presentations of propionic acidemia due to the Amish founder variant.

Mol Genet Metab Rep 2019 Dec 6;21:100537. Epub 2019 Nov 6.

Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100537DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895572PMC
December 2019

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
November 2019

Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism.

Pediatr Clin North Am 2018 04 28;65(2):209-230. Epub 2017 Dec 28.

Department of Genetics and Genome Sciences, Case Western Reserve University, Center for Human Genetics, University Hospitals Cleveland Medical Center, 11100 Euclid Avenue, Suite 1500 Lakeside Building, Cleveland, OH 44106, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pcl.2017.11.003DOI Listing
April 2018

The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.

Mol Genet Metab 2016 09 1;119(1-2):50-6. Epub 2016 Jul 1.

Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, OH, United States; Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States; Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Case Medical Center, Cleveland, OH, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.06.012DOI Listing
September 2016