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Family with intermittent maple syrup urine disease

A family is described in which the 3 children presented with episodes of severe metabolic acidosis secondary to minor infections. 2 of them died, and 1 of these was severely retarded. The sole surviving child is 6 years old and is normal with respect to physical and mental development. Gas chromatog...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Valman, H. B., Patrick, A. D., Seakins, J. W. T., Platt, J. W., Gompertz, D.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 1973
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1648079/
https://ncbi.nlm.nih.gov/pubmed/4693464
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