Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

BACKGROUND: Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency are long-chain fatty acid oxidation disorders with particularly high morbidity and mortality. Outcome can be favorable if diagnosed in time, prompting the implementation in newborn...

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Detalles Bibliográficos
Autores principales: Lotz-Havla, Amelie S., Röschinger, Wulf, Schiergens, Katharina, Singer, Katharina, Karall, Daniela, Konstantopoulou, Vassiliki, Wortmann, Saskia B., Maier, Esther M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053800/
https://www.ncbi.nlm.nih.gov/pubmed/30029694
http://dx.doi.org/10.1186/s13023-018-0875-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053800/
https://www.ncbi.nlm.nih.gov/pubmed/30029694
http://dx.doi.org/10.1186/s13023-018-0875-6

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