Publications by authors named "Renata Gallagher"

37Publications

Cobalamin D Deficiency Identified Through Newborn Screening.

JIMD Rep 2019 11;44:73-77. Epub 2018 Aug 11.

Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.

View Article and Find Full Text PDF
August 2018

Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2018 07 15;20(7):683-691. Epub 2018 Mar 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

View Article and Find Full Text PDF
July 2018

Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.

JIMD Rep 2017 9;37:55-61. Epub 2017 Mar 9.

Department of Pediatrics, University of California at San Francisco, 330 Post Street, 6th Floor, San Francisco, CA, USA.

View Article and Find Full Text PDF
March 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:

View Article and Find Full Text PDF
September 2016

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).

PLoS One 2016 12;11(4):e0153358. Epub 2016 Apr 12.

Division of Metabolism and Children`s Research Center (CRC), University Children`s Hospital, Zurich, Switzerland.

View Article and Find Full Text PDF
August 2016

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.

Pediatr Neurol 2016 06 11;59:6-12. Epub 2016 Jan 11.

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada; Treatable Intellectual Disability Endeavor in British Columbia (TIDE-BC), Vancouver, British Columbia, Canada. Electronic address:

View Article and Find Full Text PDF
June 2016

Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations.

Headache 2016 Jan 18;56(1):215-21. Epub 2015 Dec 18.

Department of Pediatrics, UCSF, San Francisco, CA, USA.

View Article and Find Full Text PDF
January 2016

Clinical and biochemical characterization of four patients with mutations in ECHS1.

Orphanet J Rare Dis 2015 Jun 18;10:79. Epub 2015 Jun 18.

Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.

View Article and Find Full Text PDF
June 2015

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.

Mitochondrion 2015 Mar 6;21:1-10. Epub 2015 Jan 6.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA. Electronic address:

View Article and Find Full Text PDF
March 2015

Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.

J Pediatr 2014 Apr 30;164(4):720-725.e6. Epub 2014 Jan 30.

University of Colorado School of Medicine, Department of Pediatrics, Section of Gastroenterology, Hepatology and Nutrition, The Digestive Health Institute and Children's Hospital Colorado, Aurora CO.

View Article and Find Full Text PDF
April 2014

Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency.

Mol Genet Metab 2012 Feb 7;105(2):263-5. Epub 2011 Nov 7.

Gene Therapy Program, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

View Article and Find Full Text PDF
February 2012

Urea cycle disorders: brain MRI and neurological outcome.

Pediatr Radiol 2012 Apr 12;42(4):455-62. Epub 2011 Oct 12.

Department of Radiology, University of Colorado, 12631 E. 17th Ave., Aurora, CO 80045, USA.

View Article and Find Full Text PDF
April 2012

The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.

J Inherit Metab Dis 2010 Oct 3;33(5):571-81. Epub 2010 Sep 3.

Department of Pediatrics, University of Colorado Denver, Aurora, CO 80045, USA.

View Article and Find Full Text PDF
October 2010

Progressive cerebral vascular degeneration with mitochondrial encephalopathy.

Am J Med Genet A 2008 Feb;146A(3):361-7

Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA.

View Article and Find Full Text PDF
February 2008

Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed.

Mol Genet Metab 2005 Nov 23;86(3):417-20. Epub 2005 Sep 23.

Department of Pediatrics, Division of Genetics, Stanford University School of Medicine, Stanford, CA, USA.

View Article and Find Full Text PDF
November 2005

Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.

Am J Hum Genet 2002 Sep 31;71(3):669-78. Epub 2002 Jul 31.

Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA.

View Article and Find Full Text PDF
September 2002