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University of Sydney, Camperdown, New South Wales, Australia
Department of Endocrinology, Royal North Shore Hospital, St Leonards, New South Wales, Australia
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Department of Endocrinology, St. Bartholomew’s Hospital, Barts Health NHS Trust, London, UK
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University of Sydney, Camperdown, New South Wales, Australia
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School of Medicine, University of Tasmania, Hobart, Tasmania, Australia
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Department of Endocrinology, St. Bartholomew’s Hospital, Barts Health NHS Trust, London, UK
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University of Sydney, Camperdown, New South Wales, Australia
Department of Endocrinology, Royal North Shore Hospital, St Leonards, New South Wales, Australia
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Spinal muscular atrophy TH Neuropathology Overlap of roles in tumourigenesis and early neurological development DBC1, CDK5RAP2, MEGF9 Neuronal differentiation; bladder cancer MTHFR Acute leukaemia; colon cancer; neural tube
Regional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, UK
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suggestion of naming this syndrome as multiple endocrine neoplasia type 5 ( Seabrook et al. 2021 ). This review summarises the inheritance and pathophysiology of SDHx and MAX variants, considers the clinical manifestations and discusses the evidence
Département de Médecine Génomique des Tumeurs et des Cancers, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France
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Biomedical Research Networking Centre on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain
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Mays Cancer Center at UTHSCSA, San Antonio, Texas, USA
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Introduction The sixth International Symposium on Pheochromocytoma (ISP2022) took place in Prague, Czech Republic, from 19 to 22 October 2022, 5 (and not the usual 3) years after the previous edition held in Sydney, Australia, in 2017, due to
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Department of Endocrinology, Royal North Shore Hospital, St Leonards, Australia
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metabolomics most often relies on high-resolution mass spectrometry using a quadrupole-time-of-flight or an Orbitrap mass spectrometer that can measure masses with high accuracy, typically 5 ppm or less ( Xian et al. 2012 ). Metabolites are identified either