A Patient with neonatal cholestasis

1Javaid MK, Boyce A, Appelman-Dijkstra N, Ong J, Defabianis P, Offiah A, et al. Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium. Orphanet J Rare Dis. 2019;14:139. doi: 10.118.6/s13023-019-1255-6Javaid MK Boyce A Appelman-Dijkstra N Ong J Defabianis P Offiah A et al Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium Orphanet J Rare Dis 201914139 10.118.6/s13023-019-1255-6Open DOISearch in Google Scholar

2El-Rifai N, Lumbroso S, Cartigny M, Weill J, Sultan C, Gottrand F. Infant cholestasis in McCune-Albright syndrome. Acta Paediatr. 2004;93:141. doi: 10.1080/08035250310007880El-Rifai N Lumbroso S Cartigny M Weill J Sultan C Gottrand F Infant cholestasis in McCune-Albright syndrome Acta Paediatr 200493141 10.1080/08035250310007880Open DOISearch in Google Scholar

3Claeys KG, Zuchner S, Kennerson M, Berciano J, García A, Verhoeven K, et al. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain. 2009;132:1741–52. doi: 10.1093/brain/awp115Claeys KG Zuchner S Kennerson M Berciano J García A Verhoeven K et al Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy Brain 20091321741 52 10.1093/brain/awp115Open DOISearch in Google Scholar

4Yahyaoui R, Blasco-Alonso J, Benito C, Rodríguez-García E, Andrade F, Aldámiz-Echevarría L, et al. A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening. J Inherit Metab Dis. 2019;42:407–13. doi: 10.1002/jimd.12063Yahyaoui R Blasco-Alonso J Benito C Rodríguez-García E Andrade F Aldámiz-Echevarría L et al A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening J Inherit Metab Dis 201942407 13 10.1002/jimd.12063Open DOISearch in Google Scholar