Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics.

Autor: Adams D; Atlantic Health Morristown Medical Center, Morristown, NJ, USA., Andersson HC; Hayward Genetics Center, Tulane University Medical School, New Orleans, LA, USA., Bausell H; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Crivelly K; Hayward Genetics Center, Tulane University Medical School, New Orleans, LA, USA., Eggerding C; Cooper University Health Care, Camden, NJ, USA., Lah M; Indiana University School of Medicine, Indianapolis, IN, USA., Lilienstein J; BioMarin Pharmaceutical Inc., Novato, CA, USA., Lindstrom K; Phoenix Children's Hospital, Phoenix, AZ, USA., McNutt M; University of Texas Southwestern Medical Center, Dallas, TX, USA., Ray JW; University of Texas Medical Branch, Galveston, TX, USA., Saavedra H; The University of Texas Health Science Center at Houston - McGovern Medical School, Houston, TX, USA., Sacharow S; Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Starin D; Rare Disease Institute, Children's National, Washington, DC, USA., Tiffany-Amaro J; St. Christopher's Hospital for Children, Philadelphia, PA, USA., Thomas J; University of Colorado School of Medicine, Aurora, CO, USA., Vucko E; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Wessenberg LB; OHSU Doernbecher Children's Hospital, Portland, OR, USA., Whitehall K; BioMarin Pharmaceutical Inc., Novato, CA, USA.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Aug 14; Vol. 28, pp. 100790. Date of Electronic Publication: 2021 Aug 14 (Print Publication: 2021).

Oral D-galactose supplementation in PGM1-CDG.

Autor: Wong SY; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA., Gadomski T; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA., van Scherpenzeel M; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen, The Netherlands., Honzik T; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Hansikova H; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic., Holmefjord KSB; Department of Pediatric Habilitation, Stavanger University Hospital, Stavanger, Norway., Mork M; Department of Pediatric Habilitation, Stavanger University Hospital, Stavanger, Norway., Bowling F; Biochemical Diseases, Mater Children's Hospital, South, Brisbane, Queensland, Australia., Sykut-Cegielska J; Screening and Metabolic Diagnostics Department, The Institute of Mother and Child, Warsaw, Poland., Koch D; Pediatric Cardiology, Bergisch Gladbacher Koln, Koln, Germany., Hertecant J; Genetics/Metabolics Service, Tawam Hospital, Al Ain, United Arab Emirates., Preston G; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA., Jaeken J; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium., Peeters N; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA., Perez S; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA., Nguyen DD; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA., Crivelly K; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA., Emmerzaal T; Department of Anatomy, Radboud University Medical Centre, Nijmegen, The Netherlands., Gibson KM; Washington State University College of Pharmacy, Spokane, Washington, USA., Raymond K; Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Abu Bakar N; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen, The Netherlands., Foulquier F; University Lille, CNRS, UMR 8576-UGSF-Unité de Glycobiologie Structurale et Fonctionnelle, Lille, France., Poschet G; Centre for Organismal Studies (COS), University of Heidelberg, Heidelberg, Germany., Ackermann AM; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., He M; Palmieri Metabolic Disease Laboratory, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Lefeber DJ; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen, The Netherlands., Thiel C; Center for Child and Adolescent Medicine, Kinderheilkunde I, University of Heidelberg, Heidelberg, Germany., Kozicz T; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.; Department of Anatomy, Radboud University Medical Centre, Nijmegen, The Netherlands., Morava E; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2017 Nov; Vol. 19 (11), pp. 1226-1235. Date of Electronic Publication: 2017 Jun 15.

Autism in patients with propionic acidemia.

Autor: Witters P; Department of Pediatrics, Metabolic Center, University Hospitals Leuven, Leuven, Belgium., Debbold E; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, USA., Crivelly K; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, USA., Vande Kerckhove K; Department of Pediatrics, Metabolic Center, University Hospitals Leuven, Leuven, Belgium., Corthouts K; Department of Pediatrics, Metabolic Center, University Hospitals Leuven, Leuven, Belgium., Debbold B; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, USA., Andersson H; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, USA., Vannieuwenborg L; Department of Psychology, Metabolic Center, University Hospitals Leuven, Leuven, Belgium., Geuens S; Department of Psychology, Metabolic Center, University Hospitals Leuven, Leuven, Belgium., Baumgartner M; Division of Metabolism, Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland., Kozicz T; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, USA; Donders Institute for Brain, Neuroscience, Radboudumc, Nijmegen, The Netherlands., Settles L; Department of Psychiatry, Tulane University School of Medicine, New Orleans, LA, USA., Morava E; Department of Pediatrics, Metabolic Center, University Hospitals Leuven, Leuven, Belgium; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, USA. Electronic address: emoravakozicz@tulane.edu.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2016 Dec; Vol. 119 (4), pp. 317-321. Date of Electronic Publication: 2016 Oct 31.

Apoptotic and proliferative processes in the small intestine of rats with type 2 diabetes mellitus after metformin and propionic acid treatment.

Autor: Natrus, Larysa, Lisakovska, Olha, Smirnov, Anton, Osadchuk, Yuliia, Klys, Yuliia

Publikováno v: Frontiers in Pharmacology; 2024, p1-11, 11p

Evaluating Therapy and Growth in Children with Phenylketonuria: A Retrospective Longitudinal Study from Two Romanian Centers.

Autor: Bugi, Meda-Ada, Jugănaru, Iulius, Simina, Iulia-Elena, Nicoară, Delia-Maria, Cristun, Lucian-Ioan, Brad, Giorgiana-Flavia, Huțanu, Delia, Isac, Raluca, Kozma, Kinga, Cîrnatu, Daniela, Mărginean, Otilia

Publikováno v: Medicina (1010660X); Jul2024, Vol. 60 Issue 7, p1185, 15p