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Predominant and novel de novo variants in 29 individuals wi..:

Ng, Bobby G. ; Eklund, Erik A. ; Shiryaev, Sergey A....
Journal of Inherited Metabolic Disease. 43 (2020) 6 - p. 1333-1348 , 2020

Link: https://doi.org/10.1002/jimd.12290

RT Journal
T1 <Title>Predominant and novel de novo variants in 29 individuals withALG13deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions</Title>

UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_jimd.12290&Exemplar=1&LAN=DE
				
A1 Ng, Bobby G.
A1 Eklund, Erik A.
A1 Shiryaev, Sergey A.
A1 Dong, Yin Y.
A1 Abbott, Mary‐Alice
A1 Asteggiano, Carla
A1 Bamshad, Michael J.
A1 Barr, Eileen
A1 Bernstein, Jonathan A.
A1 Chelakkadan, Shabeed
A1 Christodoulou, John
A1 Chung, Wendy K.
A1 Ciliberto, Michael A.
A1 Cousin, Janice
A1 Gardiner, Fiona
A1 Ghosh, Suman
A1 Graf, William D.
A1 Grunewald, Stephanie
A1 Hammond, Katherine
A1 Hauser, Natalie S.
A1 Hoganson, George E.
A1 Houck, Kimberly M.
A1 Kohler, Jennefer N.
A1 Morava, Eva
A1 Larson, Austin A.
A1 Liu, Pengfei
A1 Madathil, Sujana
A1 McCormack, Colleen
A1 Meeks, Naomi J.L.
A1 Miller, Rebecca
PB Wiley
YR 2020
SN 0141-8955
SN 1573-2665
JF Journal of Inherited Metabolic Disease
VO 43
IS 6
SP 1333
OP 1348
LK http://dx.doi.org/https://doi.org/10.1002/jimd.12290
DO https://doi.org/10.1002/jimd.12290
SF ELIB - SuUB Bremen

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