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ey0020.6-5 | Important for Clinical Practice | ESPEYB20

6.5. International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: A consensus-based approach

M Engelen , WJC van Ballegoij , EJ Mallack , KP Van Haren , W Kohler , E Salsano , ASP van Trotsenburg , F Mochel , C Sevin , MO Regelmann , NA Tritos , A Halper , RH Lachmann , J Davison , GV Raymond , TC Lund , PJ Orchard , JS Kuehl , CA Lindemans , P Caruso , BR Turk , AB Moser , FM Vaz , S Ferdinandusse , S Kemp , A Fatemi , FS Eichler , IC Huffnagel

Brief summary: This paper describes consensus expert recommendations for the diagnosis and management of patients with Adrenoleukodystrophy.Adrenoleukodystrophy (ALD), a progressive metabolic disorder with variable and unpredictable clinical course, is caused by pathogenic variants in ABCD1 gene leading to deficient β-oxidation of saturated very-long-chain fatty acids (VLCFAs) (1, 2). Patients are asymptomatic at birth but ...

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ESPE Yearbook of Paediatric Endocrinology

6.5. International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: A consensus-based approach

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