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Monographs in human genetics最新文献

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Inherited disorders of transport: aminoacidurias. 遗传性运输障碍:氨基酸血症。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401627
S Segal
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引用次数: 1
Characterization of a variant of beta-hexosaminidase. β -己糖氨酸酶的一种变异特征。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401632
J C Dreyfus, L Poenaru, J Boue
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引用次数: 0
Salbutamol inhalations suppress attacks of hyperkalemia in familial periodic paralysis. 吸入沙丁胺醇抑制家族性周期性麻痹患者高钾血症的发作。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401567
P Wang, T Clausen, H Orskov
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引用次数: 9
A new phenotypic variant of alpha-L-iduronidase deficiency. α - l -伊杜糖醛酸酶缺乏症的新表型变异。
Monographs in human genetics Pub Date : 1978-01-01
G Kohn, G Bach, E Lasch, M E Massri, C Legum, M M Cohen
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引用次数: 0
Structural mutation of aldolase B in hereditary fructose intolerance: electrofocusing results. 遗传性果糖不耐受中醛缩酶B的结构突变:电聚焦结果。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401600
F Schapira, A Hatzfeld, C Gregori
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引用次数: 2
Purine metabolism in cultured human fibroblasts derived from patients deficient in enzymes of the purine salvage pathway. 嘌呤回收途径酶缺乏患者培养的人成纤维细胞的嘌呤代谢。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401575
L F Thompson, R C Willis, J W Stoop, J E Seegmiller
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引用次数: 2
Maple syrup urine disease: emergency treatment of the neonate. 枫糖浆尿病:新生儿急诊治疗。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401615
G Hammersen, L Wille, H Schmidt, P Lutz, H Bickel
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引用次数: 6
Selective analysis of adenosine, 1-methylinosine and N2-methylguanosine by high pressure liquid chromatography. 高压液相色谱法选择性分析腺苷、1-甲基亚胺苷和n2 -甲基鸟苷。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401582
P. Brown, A. Krstulović, R. Hartwick
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引用次数: 2
Whole body amino acid pools and turnover rates determined by a stable isotope gas chromatographic mass spectrometric methodology. 用稳定同位素气相色谱质谱法测定全身氨基酸池和周转率。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401610
C S Irving, I Nissim, A Lapidot
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引用次数: 4
Nutritional aspects in the treatment of inborn errors. 营养方面的先天性错误治疗。
Monographs in human genetics Pub Date : 1978-01-01
N Zöllner
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引用次数: 0
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