MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy.
In: Human Genetics, Jg. 138 (2019-12-01), Heft 11-12, S. 1247-1257
Online
academicJournal
Zugriff:
Titel: |
MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy.
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Autor/in / Beteiligte Person: | Broeks, Melissa H. ; Shamseldin, Hanan E. ; Alhashem, Amal ; Hashem, Mais ; Abdulwahab, Firdous ; Alshedi, Tarfa ; Alobaid, Iman |
Link: | |
Zeitschrift: | Human Genetics, Jg. 138 (2019-12-01), Heft 11-12, S. 1247-1257 |
Veröffentlichung: | 2019 |
Medientyp: | academicJournal |
ISSN: | 0340-6717 (print) |
DOI: | 10.1007/s00439-019-02063-z |
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