Doenças dos aminoácidos de cadeia ramificada.
The authors present 19 cases of branched-chain AA catabolism disease: 9 Maple Syrup Urine Diseases, 6 Methylmalonic Acidemias, 2 Propionic Acidemias, 1 case of 3-OH-3-methylglutaryl-CoA-lyase deficiency and another of 2-methyl-ketoacetyl-CoA-thiolase deficiency. Fifteen are early neonatal forms and...
| Main Authors: | , , , , , |
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| פורמט: | Article |
| שפה: | English |
| יצא לאור: |
Ordem dos Médicos
1998-07-01
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| סדרה: | Acta Médica Portuguesa |
| גישה מקוונת: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2301 |