Výsledky vyhledávání - "Kronquist KE"

Akademický článek

Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.

Autor: Van Hove JLK; Department of Pediatrics, School of Medicine, University of Colorado, Aurora, Colorado., Freehauf CL; Department of Pediatrics, School of Medicine, University of Colorado, Aurora, Colorado., Ficicioglu C; Division of Human Genetics, The Children's Hospital Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania., Pena LDM; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, North Carolina., Moreau KL; Department of Medicine, School of Medicine, University of Colorado, Aurora, Colorado.; Geriatric Research and Education Center, Denver Veterans Administration Medical Center, Aurora, Colorado., Henthorn TK; iC42 Clinical Research and Development, Department of Anesthesiology, School of Medicine, University of Colorado, Aurora, Colorado.; Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado, Aurora, Colorado., Christians U; iC42 Clinical Research and Development, Department of Anesthesiology, School of Medicine, University of Colorado, Aurora, Colorado., Jiang H; Department of Pediatrics, School of Medicine, University of Colorado, Aurora, Colorado., Cowan TM; Department of Pathology, Stanford University, Stanford, California., Young SP; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, North Carolina., Hite M; Research Institute, Children's Hospital Colorado, Aurora, Colorado., Friederich MW; Department of Pediatrics, School of Medicine, University of Colorado, Aurora, Colorado., Stabler SP; Department of Medicine, School of Medicine, University of Colorado, Aurora, Colorado., Spector EB; Department of Pediatrics, School of Medicine, University of Colorado, Aurora, Colorado., Kronquist KE; Department of Pediatrics, School of Medicine, University of Colorado, Aurora, Colorado., Thomas JA; Department of Pediatrics, School of Medicine, University of Colorado, Aurora, Colorado., Emmett P; CTRC Core Laboratory, Children's Hospital Colorado, Aurora, Colorado., Harrington MJ; CTRC Core Laboratory, Children's Hospital Colorado, Aurora, Colorado., Pyle L; Department of Pediatrics, School of Medicine, University of Colorado, Aurora, Colorado.; Department of Biostatistics and Informatics, Colorado School of Public Health, University of Colorado, Aurora, Colorado., Creadon-Swindell G; Department of Pediatrics, School of Medicine, University of Colorado, Aurora, Colorado., Wempe MF; Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado, Aurora, Colorado., MacLean KN; Department of Pediatrics, School of Medicine, University of Colorado, Aurora, Colorado.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 May; Vol. 42 (3), pp. 424-437. Date of Electronic Publication: 2019 Apr 11.

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Akademický článek

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.

Autor: Coughlin CR 2nd; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA., Swanson MA; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA., Spector E; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.; Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, 80045, USA., Meeks NJL; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.; Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, 80045, USA., Kronquist KE; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.; Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, 80045, USA., Aslamy M; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA., Wempe MF; School of Pharmacy, Department of Pharmaceutical Sciences, University of Colorado, Anschutz Medical Campus, Aurora, Colorado, 80045, USA., van Karnebeek CDM; Department of Pediatrics and Clinical Genetics, Academic Medical Centre, 1105 AZ Amsterdam, The Netherlands.; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia, V5Z4H4, Canada., Gospe SM Jr; Division of Pediatric Neurology, Departments of Neurology and Pediatrics, University of Washington, Seattle, Washington, USA.; Seattle Children's Research Institute, Seattle, Washington, USA., Aziz VG; Seattle Children's Research Institute, Seattle, Washington, USA., Tsai BP; Fulgent Genetics, Temple City, California, 91780, USA., Gao H; Fulgent Genetics, Temple City, California, 91780, USA., Nagy PL; Medical Neurogenetics Laboratories, LLC, Atlanta, Georgia, USA., Hyland K; Medical Neurogenetics Laboratories, LLC, Atlanta, Georgia, USA., van Dooren SJM; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center & Amsterdam Neuroscience, Amsterdam, The Netherlands., Salomons GS; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center & Amsterdam Neuroscience, Amsterdam, The Netherlands., Van Hove JLK; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 Mar; Vol. 42 (2), pp. 353-361. Date of Electronic Publication: 2019 Feb 22.

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Editorial & Opinion

Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene.

Autor: Coughlin CR 2nd; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO 80045, USA., Swanson MA; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO 80045, USA., Spector EB; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO 80045, USA., Kronquist KE; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO 80045, USA., Van Hove JLK; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO 80045, USA.. Electronic address: Johan.Vanhove@ucdenver.edu.

Publikováno v: Pediatric neurology [Pediatr Neurol] 2018 Feb; Vol. 79, pp. e1. Date of Electronic Publication: 2017 Sep 28.

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