Buehler B A
Ann Clin Lab Sci. 1980 Nov-Dec;10(6):500-7.
This study of enzyme deficiencies and hematologic aberrations in metabolic diseases includes disorders of amino acidopathies, lipid disease, albinism, carbohydrates, and mucopolysaccharidosis.
这项关于代谢疾病中酶缺乏症和血液学异常的研究涵盖了氨基酸病、脂质病、白化病、碳水化合物病和黏多糖贮积症等疾病。