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Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening
Biotinidase (BTD) deficiency is an autosomal recessive inherited neurocutaneous disorder. BTD recycles the vitamin biotin, a coenzyme essential for the function of four biotin-dependent carboxylases, including propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, pyruvate carboxylase, and ace...
Autores principales: | Cicalini, Ilaria, Pieragostino, Damiana, Rizzo, Cristiano, Verrocchio, Sara, Semeraro, Daniela, Zucchelli, Mirco, Di Michele, Silvia, Dionisi-Vici, Carlo, Stuppia, Liborio, De Laurenzi, Vincenzo, Bucci, Ines, Rossi, Claudia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7916230/ https://www.ncbi.nlm.nih.gov/pubmed/33572391 http://dx.doi.org/10.3390/ijerph18041659 |
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