The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: A case report

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Publikováno v: In Molecular Genetics and Metabolism April 2012 105(4):571-574

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms

Autor: Horvath, G A, Stockler-Ipsiroglu, S G, Salvarinova-Zivkovic, R, Lillquist, Y P, Connolly, M, Hyland, K, Blau, N, Rupar, T, Waters, P J

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afe0cb3f41a0daec2a1c8a1719ac3397
https://doi.org/10.5167/uzh-4327

Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge—A Case Report.

Autor: Pané, Adriana^1,2,3 (AUTHOR) pane@clinic.cat, Carrasco-Serrano, Marcos^1,2 (AUTHOR) garrabou@clinic.cat, Milad, Camila¹ (AUTHOR), Leyes, Pere^1,2 (AUTHOR) jugarcia@clinic.cat, Moreno-Lozano, Pedro Juan^2,4,5 (AUTHOR) rmlopez@clinic.cat, Ventura, Roser^2,5 (AUTHOR) aribes@clinic.cat, Milisenda, José Cesar^2,5,6,7 (AUTHOR), García-García, Francesc Josep^2,6,7,8 (AUTHOR), Garrabou, Glòria^2,6,7,8 (AUTHOR), García-Villoria, Judit^2,4,6,7,9 (AUTHOR), López-Galera, Rosa Maria^2,4,6,7,9 (AUTHOR), Ribes, Antonia^2,4,6,7,9 (AUTHOR), Grau-Junyent, Josep Maria^2,5,6,7 (AUTHOR), Forga-Visa, Maria de Talló^1,2,4 (AUTHOR), Montserrat-Carbonell, Cristina^1,2,4 (AUTHOR) pane@clinic.cat

Publikováno v: Journal of Clinical Medicine. Dec2023, Vol. 12 Issue 23, p7452. 10p.

Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.

Autor: Parikh S; Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, OH, United States. Electronic address: parikhs@ccf.org., Goldstein A; Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, PA, United States., Koenig MK; Division of Child & Adolescent Neurology, University of Texas Medical School at Houston, Houston, TX, United States., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine & Texas Children's Hospital, Houston, TX, United States., Enns GM; Department of Pediatrics, Division of Medical Genetics, Stanford University Lucile Packard Children's Hospital, Palo Alto, CA, United States., Saneto R; Seattle Children's Hospital/University of Washington, Seattle, WA, United States., Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA

Publikováno v: Mitochondrion [Mitochondrion] 2014 Jan; Vol. 14 (1), pp. 26-33. Date of Electronic Publication: 2013 Jul 26.

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.

Autor: Horvath GA; Department of Pediatrics, BC's Children's Hospital and University of British Columbia, 4480 Oak Street, Vancouver, BC, Canada., Stockler-Ipsiroglu SG, Salvarinova-Zivkovic R, Lillquist YP, Connolly M, Hyland K, Blau N, Rupar T, Waters PJ

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2008 May; Vol. 94 (1), pp. 127-31. Date of Electronic Publication: 2008 Feb 13.