Journal Article

MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy

Melissa H. Broeks; Hanan E. Shamseldin; Amal Alhashem; Mais Hashem; Firdous Abdulwahab; Tarfa Alshedi; Iman Alobaid; Fried Zwartkruis; Denise Westland; Sabine Fuchs; Nanda M. Verhoeven-Duif; Judith J. M. Jans; Fowzan S. Alkuraya

Human Genetics · Vol. 138, Issue 11-12 · pp. 1247-1257 · 2019

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Bibliographic Information

Journal	Human Genetics
Publisher	Springer
Publication Date	2019-12-01
Publication Year	2019
Volume	138
Issue	11-12
Pages	1247-1257
Document Type	Journal Article
Print ISSN	0340-6717
eISSN	1432-1203
DOI	10.1007/s00439-019-02063-z

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NARA Access Coverage	1964-01-01~Current
Journal Homepage	https://www.springer.com/journal/439
Publisher Page	Open Publisher Page

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