التفاصيل البيبلوغرافية
العنوان:
Multiple Acyl-CoA-dehydrogenase deficiency (MADD) — A novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH
المؤلفون:
U. Ahting , D. Heuss , Alexandra Lämmer , B. Rolinski
المصدر:
Journal of the Neurological Sciences . 307:166-167
بيانات النشر:
Elsevier BV, 2011.
سنة النشر:
2011
مصطلحات موضوعية:
Adult , Iron-Sulfur Proteins , Male , Mitochondrial Diseases , Electron-Transferring Flavoproteins , Lipid Metabolism Disorders , Mutation, Missense , Biology , medicine.disease_cause , Electron Transport , medicine , Humans , Missense mutation , Multiple Acyl Coenzyme A Dehydrogenase Deficiency , Electron-transferring-flavoprotein dehydrogenase , Multiple Acyl-CoA Dehydrogenase Deficiency , Gene , chemistry.chemical_classification , Oxidoreductases Acting on CH-NH Group Donors , Mutation , Genetic Carrier Screening , Heterozygote advantage , Enzyme , Neurology , Biochemistry , chemistry , Coenzyme Q – cytochrome c reductase , Neurology (clinical)
الوصف:
This is the case of a 41 year old man, suffering general weakness and elevated liver enzymes, sensitive to a treatment with riboflavin and coenzyme Q 10 . Tandem mass spectroscopy and molecular analysis reveal a multiple acyl-CoA-dehydrogenase deficiency (MADD) with two novel heterozygote missense mutations of the EFTDH gene.
تدمد:
0022-510X
الوصول الحر:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7b411f3a76d23c828c81afa4119c6eeTest https://doi.org/10.1016/j.jns.2011.05.001Test
حقوق:
CLOSED
رقم الانضمام:
edsair.doi.dedup.....d7b411f3a76d23c828c81afa4119c6ee
قاعدة البيانات:
OpenAIRE
