Bcl-2 family members in childhood acute lymphoblastic leukemia: relationships with features at presentation, in vitro and in vivo drug response and long-term clinical outcome.

Autor: Salomons, G S, Smets, L A, Verwijs-Janssen, M, Hart, A A M, Haarman, E G, Kaspers, G J L, Van Wering, E R, Van Der Does-Van Den Berg, A, Kamps, W A, Hart, A A (AUTHOR), Kaspers, G J (AUTHOR), Wering, E V (AUTHOR), Der Does-Van Den Berg, A V (AUTHOR)

Publikováno v: Leukemia (08876924). Oct99, Vol. 13 Issue 10, p1574-1580. 7p.

Treatment of ARS deficiencies with specific amino acids.

Autor: Kok G; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; On behalf of 'United for Metabolic Diseases', Nijmegen, The Netherlands., Tseng L; On behalf of 'United for Metabolic Diseases', Nijmegen, The Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Schene IF; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; On behalf of 'United for Metabolic Diseases', Nijmegen, The Netherlands., Dijsselhof ME; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Salomons G; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Mendes MI; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Smith DEC; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Wiedemann A; Referral Center for Rare Metabolic Diseases, Nancy Regional and University Hospital Center, Nancy, France., Canton M; Referral Center for Rare Metabolic Diseases, Nancy Regional and University Hospital Center, Nancy, France., Feillet F; Referral Center for Rare Metabolic Diseases, Nancy Regional and University Hospital Center, Nancy, France., de Koning TJ; Department of Pediatrics, Lund University, Lund, Sweden.; Departments of Neurology and Genetics, University of Groningen, Groningen, The Netherlands., Boothe M; Department of Pediatrics, Division of Genetics and Metabolism, University of Florida, Gainesville, FL, USA., Dean J; Department of Pediatrics, Division of Genetics and Metabolism, University of Florida, Gainesville, FL, USA., Kassel R; Department of Pediatrics, University of Alabama at Birmingham School of Medicine, Birmingham, AL, USA., Ferreira EA; On behalf of 'United for Metabolic Diseases', Nijmegen, The Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands., van den Born M; On behalf of 'United for Metabolic Diseases', Nijmegen, The Netherlands., Nieuwenhuis EES; Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., Rehmann H; Department Energy and Biotechnology, Flensburg University of Applied Sciences, Flensburg, Germany., Terheggen-Lagro SWJ; Department of Pediatric Pulmonology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands., van Karnebeek CDM; On behalf of 'United for Metabolic Diseases', Nijmegen, The Netherlands. clara.vankarnebeek@radboudumc.nl.; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands. clara.vankarnebeek@radboudumc.nl.; Department of Pediatrics & Metabolic Diseases, Radboud Centre for Mitochondrial Medicine, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands. clara.vankarnebeek@radboudumc.nl., Fuchs SA; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. s.fuchs@umcutrecht.nl.; On behalf of 'United for Metabolic Diseases', Nijmegen, The Netherlands. s.fuchs@umcutrecht.nl.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2202-2207. Date of Electronic Publication: 2021 Jun 30.

Adult GAMT deficiency: A literature review and report of two siblings.

Autor: Modi BP; Centre for Molecular Medicine and Therapeutics, Dept. of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada., Khan HN; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan., van der Lee R; Centre for Molecular Medicine and Therapeutics, Dept. of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada., Wasim M; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan., Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, the Netherlands., Richmond PA; Centre for Molecular Medicine and Therapeutics, Dept. of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada., Drögemöller B; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada., Shah S; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan., Salomons G; Laboratory for Genetic Metabolic Diseases, Amsterdam University Medical Centres, Amsterdam, the Netherlands., van der Kloet FM; Laboratory for Genetic Metabolic Diseases, Amsterdam University Medical Centres, Amsterdam, the Netherlands.; Swammerdam Institute for Life Sciences, University of Amsterdam, the Netherlands., Vaz FM; Laboratory for Genetic Metabolic Diseases, Amsterdam University Medical Centres, Amsterdam, the Netherlands.; Dept. of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands., van der Crabben SN; Department of Medical Genetics, Amsterdam University Medical Centres, Amsterdam, the Netherlands., Ross CJ; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada., Wasserman WW; Centre for Molecular Medicine and Therapeutics, Dept. of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada., van Karnebeek CDM; Centre for Molecular Medicine and Therapeutics, Dept. of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centres, Amsterdam, Netherlands.; Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands.; United for Metabolic Diseases, the Netherlands., Awan FR; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Apr 26; Vol. 27, pp. 100761. Date of Electronic Publication: 2021 Apr 26 (Print Publication: 2021).

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Acidurie L-2-hydroxyglutarique : à propos de 2 cas

Autor: Wagner, S., Vianey-Saban, C., Salomons, G.-S., Schmitt, E., Feillet, F.

Publikováno v: In Archives de pédiatrie January 2014 21(1):78-85