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Successful pregnancy in maple syrup urine disease: a case report and review of the literature

BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive disorder of branched-chain amino acid metabolism. Patients with MSUD are at risk of life-threatening metabolic decompensations with ketoacidosis and encephalopathy. These episodes are often triggered by physiological stress. Only...

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Detalles Bibliográficos
Autores principales: Grünert, Sarah Catharina, Rosenbaum-Fabian, Stefanie, Schumann, Anke, Schwab, Karl Otfried, Mingirulli, Nadja, Spiekerkoetter, Ute
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5948788/
https://www.ncbi.nlm.nih.gov/pubmed/29753318
http://dx.doi.org/10.1186/s12937-018-0357-7