Literature DB >> 17060596

Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?

S Köppel1, J Gottschalk, G F Hoffmann, H R Waterham, H Blobel, S Kölker.   

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Year:  2006        PMID： 17060596     DOI： 10.1212/01.wnl.0000240065.35635.a6

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  2 in total

1.  Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.

Authors:  Sarah C Grünert
Journal:  Orphanet J Rare Dis       Date:  2014-07-22       Impact factor: 4.123

2.  A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.

Authors:  Mingcai Ou; Lin Zhu; Yong Zhang; Yaguo Zhang; Jingyao Zhou; Yu Zhang; Xuelian Chen; Lijuan Yang; Ting Li; Xingyue Su; Qi Hu; Wenjun Wang
Journal:  BMC Med Genet       Date:  2020-05-11       Impact factor: 2.103
  2 in total

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