Network phenylketonuria conference: an effective tool for facilitating adherence to diet therapy in individuals with phenylketonuria.

Autor: Freehauf CL, Bernstein L, Amos K, Isacks K, Gao D, Thomas JA

Publikováno v: Topics in Clinical Nutrition; Oct-Dec2009, Vol. 24 Issue 4, p341-346, 6p

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.

Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia.

Autor: Wolf B; Department of Pediatrics, Connecticut Children's Medical Center, 282 Washington Street, Hartford, CT 06106, USA. bwolf@ccmckids.org, Freehauf CL, Thomas JA, Gordon PL, Greene CL, Ward JC

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2003; Vol. 26 (8), pp. 805-9.

Mouse erythrocyte carriers osmotically loaded with methotrexate.

Autor: Kruse CA, Freehauf CL, Patel KR, Baldeschwieler JD

Publikováno v: Biotechnology and applied biochemistry [Biotechnol Appl Biochem] 1987 Apr; Vol. 9 (2), pp. 123-40.