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Monographs in human genetics最新文献

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Biochemical studies on erythropoietic protoporphyria. 红细胞生成性原生卟啉症的生化研究。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401595
J Van Steveninck, A F de Goeij, T M Dubbelman
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引用次数: 0
Acute intermittent porphyria: detection of carriers. 急性间歇性卟啉症:携带者的检测。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401598
M Kreimer-Birnbaum, R Franco-Saenz, P White
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引用次数: 3
Serum enzymes and inborn errors of metabolism in man. 血清酶与人的先天性代谢错误。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401641
G Schapira, J C Dreyfus
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引用次数: 0
Amino acid and hormonal response to long-term nocturnal nasogastric feeding therapy of glycogen storage disease type I (GSD-I). 糖原储存病I型(GSD-I)长期夜间鼻胃喂养治疗对氨基酸和激素的影响
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401608
A E Slonim, A Terry, H L Greene, W W Lacy, I M Burr
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引用次数: 4
Cholestatic hepatitis with renal tubular acidosis, vitamin D resistant rickets and growth failure. 胆汁淤积性肝炎伴肾小管酸中毒，维生素D抗性佝偻病和生长衰竭。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401587
G B Rosenfeld, E Lebenthal, D Branski, L Mosovich, T Baliah
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引用次数: 1
Serum alkaline phosphatase, serum pyrophosphatase, phosphorylethanolamine and inorganic pyrophosphate in plasma and urine. A genetic and clinical study of hypophosphatasia. 血浆和尿液中碱性磷酸酶、焦磷酸酶、磷酸乙醇胺和无机焦磷酸盐。低磷血症的遗传与临床研究。
Monographs in human genetics Pub Date : 1978-01-01
S A Sørensen, H Flodgaard, E Sørensen
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引用次数: 0
Kinetic aspects of purine metabolism in cultured fibroblasts. A comparative study of cells from patients overproducing purines due to HGPRT deficiency and PRPP synthetase superactivity. 培养成纤维细胞嘌呤代谢的动力学方面。HGPRT缺乏和PRPP合成酶过度活跃导致嘌呤分泌过多的患者细胞的比较研究。
Monographs in human genetics Pub Date : 1978-01-01
E Zoref, A de Vries, O Sperling
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引用次数: 0
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 DOI: 10.1159/000401571
N. Zöllner
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引用次数: 0
Benzpyrene metabolism in human diploid fibroblasts. 人二倍体成纤维细胞对苯芘的代谢。
Monographs in human genetics Pub Date : 1978-01-01
W Wöhler, C R Bartram, C C Schürer, H W Rüdiger
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引用次数: 0
Early detection of thyroid dyshormonogenesis in a breast-fed infant using a filter paper screening method. 用滤纸筛选法早期检测母乳喂养婴儿甲状腺激素生成障碍。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401590
J Sack, D Katznelson, P Czerniak, B Lunenfeld
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引用次数: 1
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