Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect

CblD disorder is an autosomal recessive, rare, heterogeneous disease with variable clinical presentations, depending on the nature and location of the MMADHC gene mutations. Mutations in MMADHC lead to three distinct phenotypes: cblD-MMA, cblD-HC, and cblD-MMA/HC. To date, 18 cblD patients have been...

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Hlavní autoři: Parini, R., Furlan, F., Brambilla, A., Codazzi, D., Vedovati, S., Corbetta, C., Fedeli, T., Merinero, B., Pérez, B., Ugarte, M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3755553/
https://ncbi.nlm.nih.gov/pubmed/23686626
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_232
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