INVESTIGATION OF THE ETIOLOGY OF MUCOLIPIDOSIS IV

我们继续对这部小说进行刻画。 存在于病人和女性尿液中的六糖 第四型粘脂病携带者。我们现在知道这是一种不寻常的 含岩藻糖的低聚糖。我们将确定它的完成性 结构，并试图了解它的代谢起源。我们发现了 这些病人都是酸中毒，他们已经升高了 它们血清中的胃泌素水平。Paretic细胞负责 在获得的活检组织中，酸分泌具有扭曲的形态 来自IV型粘脂病患者。我们认为这些异常 对粘脂症IV的病因学有贡献，我们是 利用它们来阐明这一特定的生化损伤 遗传性疾病。

We have continued our characterization of the novel hexasaccharide that is present in the urine of patients and female carriers of mucolipidosis IV. We now know that it is an unusual fucose-containing oligosaccharide. We shall determine its complete structure and attempt to learn its metabolic origin. We have found that these patients are achlorhydric and that they have elevated levels of gastrin in their sera. Pareital cells that are responsible for acid secretion have a distorted morphology in biopsies obtained from patients with mucolipidosis IV. We believe these abnormalities contribute to the etiology of mucolipidosis IV, and we are exploiting them to elucidate the specific biochemical lesion in this hereditary disorder.