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Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1.

Autor: Chen OCW; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, Oxfordshire, OX1 3QT, UK., Siebel S; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, 20892, USA., Colaco A; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, Oxfordshire, OX1 3QT, UK., Nicoli ER; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, Oxfordshire, OX1 3QT, UK., Platt N; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, Oxfordshire, OX1 3QT, UK., Shepherd D; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, Oxfordshire, OX1 3QT, UK., Newman S; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, Oxfordshire, OX1 3QT, UK., Armitage AE; MRC Human Immunology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, Oxfordshire, OX3 9DS, UK., Farhat NY; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, 20892, USA., Seligmann G; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, Oxfordshire, OX1 3QT, UK., Smith C; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, Oxfordshire, OX1 3QT, UK., Smith DA; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, Oxfordshire, OX1 3QT, UK., Abdul-Sada A; Chemistry Department, School of Life Sciences, University of Sussex, Brighton, Sussex, BN1 9QJ, UK., Jeyakumar M; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, Oxfordshire, OX1 3QT, UK., Drakesmith H; MRC Human Immunology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, Oxfordshire, OX3 9DS, UK., Porter FD; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, 20892, USA., Platt FM; Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, Oxfordshire, OX1 3QT, UK.

Publikováno v: Wellcome open research [Wellcome Open Res] 2023 Apr 03; Vol. 7, pp. 267. Date of Electronic Publication: 2023 Apr 03 (Print Publication: 2022).

Defective platelet function in Niemann-Pick disease type C1.

Autor: Chen OCW; Department of Pharmacology University of Oxford Oxford UK., Colaco A; Department of Pharmacology University of Oxford Oxford UK., Davis LC; Department of Pharmacology University of Oxford Oxford UK., Kiskin FN; Department of Pharmacology University of Oxford Oxford UK., Farhat NY; Division in Translational Medicine Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services Bethesda Maryland USA., Speak AO; Department of Pharmacology University of Oxford Oxford UK., Smith DA; Department of Pharmacology University of Oxford Oxford UK., Morris L; Department of Pharmacology University of Oxford Oxford UK., Eden E; Institute of Ophthalmology-Cell Biology University College London London UK., Tynan P; Department of Pharmacology University of Oxford Oxford UK., Churchill GC; Department of Pharmacology University of Oxford Oxford UK., Galione A; Department of Pharmacology University of Oxford Oxford UK., Porter FD; Division in Translational Medicine Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services Bethesda Maryland USA., Platt FM; Department of Pharmacology University of Oxford Oxford UK.

Publikováno v: JIMD reports [JIMD Rep] 2020 Sep 12; Vol. 56 (1), pp. 46-57. Date of Electronic Publication: 2020 Sep 12 (Print Publication: 2020).