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Monographs in human genetics最新文献

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Prenatal diagnosis of genetic metabolic diseases in 118 pregnancies at risk. 118例高危妊娠遗传代谢性疾病的产前诊断
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401639
W J Kleijer, M F Niermeijer, H Galjaard
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引用次数: 4
A new type of heterozygote of familial renal iminoglycinuria. 一种新的家族性肾性亚胺糖尿杂合子。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401628
E A Law, I B Sardharwalla
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引用次数: 2
Erythrocyte glutathione reductase in gout and in glucose-6-phosphate dehydrogenase deficiency. 痛风和葡萄糖-6-磷酸脱氢酶缺乏症的红细胞谷胱甘肽还原酶。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401604
O Wasserzug, A Szeinberg, O Sperling
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引用次数: 2
Ocular findings in acid lipase deficiency. 酸性脂肪酶缺乏的眼部表现。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401635
A Arbisser, L B Arbisser, C A Garcia, M Akhtar, C M Moore, R R Howell
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引用次数: 2
Uptake of purine bases by HGPRT deficient erythrocytes. HGPRT缺陷红细胞摄取嘌呤碱基。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401579
M M Müller, M Kraupp, G Falkner, C H de Bruyn
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引用次数: 7
Hereditary coproporphyria: demonstration of a genetic defect in coproporphyrinogen metabolism. 遗传性卟啉血症:卟啉原代谢的遗传缺陷的证明。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401596
Y Nordmann, B Grandchamp
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引用次数: 0
Studies on the pathogenesis of mucolipidosis. 粘脂病发病机制的研究。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401561
H Yabuuchi, S Okada, M Nishigaki, A Kobata
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引用次数: 0
Sanfilippo B disease in two related sibships. Biochemical studies in patients and sibs. 两名兄弟姐妹患有圣菲利波B型疾病。患者和同胞的生化研究。
Monographs in human genetics Pub Date : 1978-01-01
K O Liem, G J Hooghwinkel
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引用次数: 0
Hypothalamic-pituitary axis in total lipodystrophy. 下丘脑-垂体轴与总脂肪营养不良的关系。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401591
H Landau, E Lasch, I M Spitz, I A Amara, A Russell
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引用次数: 3
Phenylketonuria (PKU) in Israel. 以色列的苯丙酮尿症。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401617
B E Cohen, A Szeinberg, Y Levine, I Peled, S Pollack, M Crispin, M Normand
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引用次数: 7
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