Identification of two subtypes of infantile acid maltase deficiency
Identification of two subtypes of infantile acid maltase deficiency
复制标题
DOI：
10.1067/mpd.2000.107112
复制
发表时间：
2000-08-01
影响因子：
5.1
通讯作者：
Martiniuk, F
中科院分区：
文献类型：
--
作者：
Slonim, AE;Bulone, L;Martiniuk, F
患有酸性麦芽糖酶缺乏症的婴儿有严重的肥厚性心肌病、左心室流出梗阻和全身肌无力，并在1岁前死亡。我们确定了12名患有酸性麦芽糖酶缺乏症的婴儿，他们有相似的临床表现，但不太严重的心肌病和没有左心室流出梗阻，12人中有9人在辅助通气和补充插管的情况下生存时间更长。
Infantile patients with acid maltase deficiency have severe hypertrophic cardiomyopathy, left ventricular outflow obstruction, and generalized muscle weakness and die before 1 year of age. We identified 12 infants with acid maltase deficiency who had a similar clinical presentation but less severe cardiomyopathy and absence of left ventricular outflow obstruction, and 9 of 12 had longer survival with assisted ventilation and supplemental intubation.