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Monographs in human genetics最新文献

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Glycogen storage disease type I: effect of continuous nocturnal nasogastric feeding. 糖原贮积病I型:夜间持续鼻胃喂养的影响。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401607
A G Davidson, L T Wong, L Kirby, W J Tze, J M Rigg, D A Applegarth
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引用次数: 6
Inborn errors of metabolism in man. Part I: carbohydrate, amino acid and lipid metabolism. 人类天生的新陈代谢错误。第一部分:碳水化合物、氨基酸和脂质代谢。
Monographs in human genetics Pub Date : 1978-01-01
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引用次数: 0
Pyruvate dehydrogenase deficiency in 35 patients. 丙酮酸脱氢酶缺乏症35例。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401603
J P Blass, S D Cederbaum, R A Kark, M Rodriguez-Budelli
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引用次数: 3
Type VII glycogenosis (muscle and erythrocyte phosphofructokinase deficiency). VII型糖原病(肌肉和红细胞磷酸果糖激酶缺乏)。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401609
S Tarui, N Kono, M Kuwajima, Y Ikura
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引用次数: 7
Copper metabolism in Menkes disease. 门克斯病的铜代谢。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401584
T J Goka, R R Howell
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引用次数: 21
Genetic mutant cell cultures: quality control. 基因突变细胞培养:质量控制。
Monographs in human genetics Pub Date : 1978-01-01
L L Coriell
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引用次数: 0
The diagnosis and management of propionic acidemia. 丙酸血症的诊断与治疗。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401614
C de Cespedes, A R Loria, Y Estrada, L Sweetman, W L Nyhan
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引用次数: 2
Trace element disturbances in dietetically treated patients with phenylketonuria and maple syrup urine disease. 苯丙酮尿和枫糖尿病患者饮食治疗中的微量元素干扰
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401620
I Lombeck, K Kasperek, L E Feinendegen, H J Bremer
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引用次数: 12
Cystathionine beta-synthase deficiency: observations on the biochemical lesion in a vitamin B6 non-responsive patient. 半胱硫氨酸-合成酶缺乏症:对维生素B6无反应患者的生化损害观察。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401625
R Griffiths
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引用次数: 0
Recent advances in screening for inborn errors of metabolism. 先天性代谢缺陷筛查的最新进展。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401637
R W Watts
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引用次数: 0
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