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Monographs in human genetics最新文献

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Amino acid disorders in tissue culture cells: effects of mycoplasma and antibiotics on cystine metabolism. 组织培养细胞中的氨基酸紊乱:支原体和抗生素对胱氨酸代谢的影响。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401624
B States, D Harris, K Hummeler, S Segal
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引用次数: 1
Molecular hybridization in heterozygotes for Swiss-type acatalasemia. 瑞士型阿卡塔血症杂合子的分子杂交研究。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401593
H Aebi, S R Wyss
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引用次数: 1
Alkaline phosphatase induction in fibroblast cultures: prenatal diagnosis and carrier detection in hypophosphatasia. 成纤维细胞培养中碱性磷酸酶的诱导:低磷酸症的产前诊断和携带者检测。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401569
P. Hösli, N. Rudd
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引用次数: 6
Chediak-Higashi Syndrome I: Biochemical Abnormality and Prospects for Prenatal Diagnosis1 Chediak-Higashi综合征I:生化异常及产前诊断前景
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401623
P. Hösli, C. Griscelli, R. Good
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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
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
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
Hereditary renal hypouricemia: heterogeneity of tubular abnormality. 遗传性肾性低尿酸血症:肾小管异常的异质性。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401580
O Sperling, A Weinberger, D Benjamin, J Pinkhas, A de Vries
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引用次数: 3
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