المؤلفون: Bela Rui Turk, Laila Marie Poisson, Christina Linnea Nemeth, Jordan Goodman, Ann B. Moser, Richard Owen Jones, Ali Fatemi, Jaspreet Singh

المصدر: JIMD Reports, Vol 63, Iss 6, Pp 593-603 (2022)

مصطلحات موضوعية: adrenoleukodystrophy, adrenomyeloneuropathy, biomarker, leukodystrophy, metabolomics, micro‐RNA, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/36123677d2714446a40c64bbf255f8ce

المؤلفون: Marc Engelen, Wouter J.C. van Ballegoij, Eric James Mallack, Keith P. Van Haren, Wolfgang Köhler, Ettore Salsano, A.S.P. van Trotsenburg, Fanny Mochel, Caroline Sevin, Molly O Regelman, Nicholas A Tritos, Alyssa Halper, Robin H Lachmann, James Davison, Gerald V. Raymond, Troy Lund, Paul J. Orchard, Joern-Sven Kuehl, Caroline A. Lindemans, Paul Caruso, Bela Rui Turk, Ann B. Moser, Frederic M Vaz, Sacha Ferdinandusse, Stephan Kemp, Ali Fatemi, Florian S. Eichler, Irene C. Huffnagel

المساهمون: Neurology, Paediatric Neurology, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Paediatric Pulmonology, Paediatrics, APH - Personalized Medicine, APH - Methodology, Pediatrics

المصدر: Engelen, M, van Ballegoij, W J C, Mallack, E J, van Haren, K P, Köhler, W, Salsano, E, van Trotsenburg, A S P, Mochel, F, Sevin, C, Regelmann, M O, Tritos, N A, Halper, A, Lachmann, R H, Davison, J, Raymond, G V, Lund, T C, Orchard, P J, Kuehl, J-S, Lindemans, C A, Caruso, P, Turk, B R, Moser, A B, Vaz, F M, Ferdinandusse, S, Kemp, S, Fatemi, A, Eichler, F S & Huffnagel, I C 2022, ' International Recommendations for the Diagnosis and Management of Patients with Adrenoleukodystrophy : A Consensus-Based Approach ', Neurology, vol. 99, no. 21, pp. 940-951 . https://doi.org/10.1212/WNL.0000000000201374
Neurology, 99(21), 940-951. Lippincott Williams and Wilkins

مصطلحات موضوعية: Male, Consensus, Neonatal Screening, Infant, Newborn, Hematopoietic Stem Cell Transplantation, Humans, Neurology (clinical), Adrenoleukodystrophy, Adrenal Insufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f63f277fafcae3966c6a9313711633b
https://pubmed.ncbi.nlm.nih.gov/36175155