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.

Low bone mineral density is a common finding in patients with homocystinuria.

Autor: Weber DR; University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave, Box 690, Rochester, NY 14642, United States. Electronic address: david_weber@urmc.rochester.edu., Coughlin C; University of Colorado, Anschutz Medical Campus, Aurora, Colorado, 12800 E 19th Ave, Bldg. RC1, Aurora, CO 80010, United States., Brodsky JL; The Children's Hospital of Philadelphia, 34th and Civic Center Blvd, Pennsylvania, Philadelphia, PA 19104, United States., Lindstrom K; The Children's Hospital of Philadelphia, 34th and Civic Center Blvd, Pennsylvania, Philadelphia, PA 19104, United States., Ficicioglu C; The Children's Hospital of Philadelphia, 34th and Civic Center Blvd, Pennsylvania, Philadelphia, PA 19104, United States; Perelman School of Medicine at the University of Pennsylvania, 34th and Civic Center Blvd, Pennsylvania, Philadelphia, PA 19104, United States., Kaplan P; The Children's Hospital of Philadelphia, 34th and Civic Center Blvd, Pennsylvania, Philadelphia, PA 19104, United States; Perelman School of Medicine at the University of Pennsylvania, 34th and Civic Center Blvd, Pennsylvania, Philadelphia, PA 19104, United States., Freehauf CL; University of Colorado, Anschutz Medical Campus, Aurora, Colorado, 12800 E 19th Ave, Bldg. RC1, Aurora, CO 80010, United States., Levine MA; The Children's Hospital of Philadelphia, 34th and Civic Center Blvd, Pennsylvania, Philadelphia, PA 19104, United States; Perelman School of Medicine at the University of Pennsylvania, 34th and Civic Center Blvd, Pennsylvania, Philadelphia, PA 19104, United States.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2016 Mar; Vol. 117 (3), pp. 351-4. Date of Electronic Publication: 2015 Dec 10.

Dietary Fiber Supplementation in Type I Glycogen Storage Disease; Could it Contribute to a Better Metabolic Control?

Autor: Şanlı, Merve Emecen¹ merveemecan@gmail.com, Aktaş, Emine¹, İnci, Aslı¹, Okur, İlyas¹, Ezgü, Fatih¹, Tümer, Leyla¹

Publikováno v: Journal of Current Pediatrics / Guncel Pediatri. Dec2023, Vol. 21 Issue 3, p228-234. 7p.

Natural history of the recombinant (8) syndrome.

Autor: Sujansky E; University of Colorado Health Sciences Center, Denver., Smith AC, Prescott KE, Freehauf CL, Clericuzio C, Robinson A

Publikováno v: American journal of medical genetics [Am J Med Genet] 1993 Sep 15; Vol. 47 (4), pp. 512-25.

Osteoporosis in children and adolescents: when to suspect and how to diagnose it.

Autor: Ciancia, Silvia¹ silvia.ciancia.18@gmail.com, van Rijn, Rick R.², Högler, Wolfgang³, Appelman-Dijkstra, Natasha M.⁴, Boot, Annemieke M.⁵, Sas, Theo C. J.^1,6, Renes, Judith S.¹

Publikováno v: European Journal of Pediatrics. Jul2022, Vol. 181 Issue 7, p2549-2561. 13p. 1 Black and White Photograph, 2 Diagrams, 2 Charts.