Publications by authors named "Shawn E McCandless"

46Publications

In Memoriam.

J Inherit Metab Dis 2020 Dec 22. Epub 2020 Dec 22.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Anschutz Campus, Aurora, Colorado, USA.

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December 2020

Mandatory newborn screening in the United States: History, current status, and existential challenges.

Birth Defects Res 2020 03;112(4):350-366

Department of Pediatrics, Section of Genetics and Metabolism, Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado.

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March 2020

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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December 2019

The Global Prader-Willi Syndrome Registry: Development, Launch, and Early Demographics.

Genes (Basel) 2019 09 14;10(9). Epub 2019 Sep 14.

Foundation for Prader-Willi Research, Walnut, CA 91789, USA.

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September 2019

Answering a Question Older Than Most Pediatricians: What to Do About Duarte Variant Galactosemia.

Pediatrics 2019 01;143(1)

Section of Genetics and Metabolism, Department of Pediatrics, School of Medicine, University of Colorado Denver Anschutz Medical Campus, Aurora, Colorado

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January 2019

Caregiver priorities for endpoints to evaluate treatments for Prader-Willi syndrome: a best-worst scaling.

J Med Econ 2018 Dec 16;21(12):1230-1237. Epub 2018 Oct 16.

e Department of Biomedical Informatics , The Ohio State University College of Medicine , Columbus , OH , USA.

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December 2018

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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April 2018

Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.

Mol Genet Metab 2017 11 8;122(3):61-66. Epub 2017 Sep 8.

Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Cleveland Medical Center (UHCMC), Cleveland, OH, USA; Department of Genetics and Genome Sciences, CWRU, Cleveland, OH, USA; Center for Human Genetics, UHCMC, Cleveland, OH, USA. Electronic address:

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November 2017

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.

Mol Genet Metab 2017 11 8;122(3):46-53. Epub 2017 Sep 8.

Children's Hospital of Pittsburgh, Pittsburgh, PA, USA; University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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November 2017

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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September 2016

Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers.

J Genet Couns 2016 Apr 29;25(2):373-84. Epub 2015 Aug 29.

Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, OH, USA.

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April 2016