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	1.	An atypical p.N215S variant of Fabry disease with end-stage renal failure. [electronic resource] by Sugarman, Max Choudhury, Jamil Jovanovic, Ana Publication details: Molecular genetics and metabolism reports Jun 2018 In: Molecular genetics and metabolism reports vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature. [electronic resource] by Phadke, Rahul Hedberg-Oldfors, Carola Scalco, Renata S Lowe, David M Ashworth, Michael Novelli, Marco Vara, Roshni Merwick, Aine Amer, Halima Sofat, Reecha Sugarman, Max Jovanovic, Ana Roberts, Mark Nakou, Vasiliki King, Andrew Bodi, Istvan Jungbluth, Heinz Oldfors, Anders Murphy, Elaine Producer: 20211005 In: Journal of inherited metabolic disease vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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