Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. - Bobby G. Ng, Sergey A. Shiryaev, Ingrid E. Scheffer, Andrea Beatriz Schenone, Rhonda E. Schnur, Yue Si, Alvaro H. Serrano Russi, Farouq Thabet, Allysa Tuite, María Mercedes Villanueva, Raymond Y. Wang, Richard I. Webster, Dorcas Wilson, Alice Zalan, Lynne A. Wolfe - Dissemin

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Wiley, Journal of Inherited Metabolic Disease, 6(43), p. 1333-1348, 2020

DOI: 10.1002/jimd.12290

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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.

Journal article published in 2020 by Bobby G. Ng, Sergey A. Shiryaev, Ingrid E. Scheffer, Andrea Beatriz Schenone, Rhonda E. Schnur, Yue Si, Alvaro H. Serrano Russi, Farouq Thabet, Allysa Tuite, María Mercedes Villanueva, Raymond Y. Wang, Richard I. Webster, Dorcas Wilson, Alice Zalan, Lynne A. Wolfe and other authors.

This paper is made freely available by the publisher.

This paper is made freely available by the publisher.

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