TY - JOUR
T1 - Not so rare
T2 - Errors of metabolism during the neonatal period
AU - Banta-Wright, Sandra A.
AU - Steiner, Robert D.
PY - 2003/12
Y1 - 2003/12
N2 - During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed. The critical aspect of the metabolic evaluation in a sick newborn is to rapidly identify whether there may be a metabolic problem. If there is a metabolic problem, the goal is to minimize the sequelae of the specific disorder. This review will explore how to approach and evaluate a newborn suspected of having an EM. A discussion of clinical and laboratory findings that often accompany EM will be included.
AB - During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed. The critical aspect of the metabolic evaluation in a sick newborn is to rapidly identify whether there may be a metabolic problem. If there is a metabolic problem, the goal is to minimize the sequelae of the specific disorder. This review will explore how to approach and evaluate a newborn suspected of having an EM. A discussion of clinical and laboratory findings that often accompany EM will be included.
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U2 - 10.1053/S1527-3369(03)00116-8
DO - 10.1053/S1527-3369(03)00116-8
M3 - Article
AN - SCOPUS:0347135781
SN - 1527-3369
VL - 3
SP - 143
EP - 155
JO - Newborn and Infant Nursing Reviews
JF - Newborn and Infant Nursing Reviews
IS - 4
ER -