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Monographs in human genetics最新文献

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Hypometabolism of nonthyroid origin in oculocraniosomatic neuromuscular disease. 眼颅躯体神经肌肉疾病中非甲状腺源性代谢低下。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401592
I Krieger, Z Hart
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引用次数: 3
Two different families with alpha-L-fucosidase deficiency. 两个不同的家族都有- l -聚焦酶缺乏症。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401566
G E Staal, J Troost, M C van der Heijden, E Borst-Eilers, G Schipper-Kester, M Moes, J Willemse
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引用次数: 4
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
P Hösli, N Rudd
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引用次数: 0
Screening for inborn errors of metabolism: a multiple test program. 筛选先天性代谢错误:一个多重测试程序。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401638
C J Reinecke
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引用次数: 2
Nonketotic hyperglycinemia: a clinical analysis of 19 Finnish patients. 非酮症高血糖症:19例芬兰患者的临床分析。
Monographs in human genetics Pub Date : 1978-01-01
L von Wendt, S Similä, A Hirvasniemi, E Suvanto
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引用次数: 0
Glutamic acidemia. 谷氨酸血症。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401613
H L Teijema, A M Brubakk, H H van Gelderen, J H Ruys
{"title":"Glutamic acidemia.","authors":"H L Teijema, A M Brubakk, H H van Gelderen, J H Ruys","doi":"10.1159/000401613","DOIUrl":"https://doi.org/10.1159/000401613","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"9 ","pages":"75-9"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401613","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11933369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Screening and prevention of Tay-Sachs disease in Israel. 以色列泰-萨克斯病的筛查和预防。
Monographs in human genetics Pub Date : 1978-01-01 DOI: 10.1159/000401631
B Padeh, S Shachar, M Modan, B Goldman
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引用次数: 3
Partial HGPRT deficiency: persistance of tophi after 12 years of therapeutic normouricemia and development of a pheochromocytoma. 部分HGPRT缺乏症:治疗正常尿酸血症12年后顽固性嗜铬细胞瘤的发展。
Monographs in human genetics Pub Date : 1978-01-01
N Zöllner, F D Goebel, W Gröbner
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引用次数: 0
Congenital adrenal hyperplasia. I. Problems of management associated with late diagnosis. II. Response to gonadotrophin releasing hormone. 先天性肾上腺增生。1 .与晚期诊断相关的管理问题。2对促性腺激素释放激素的反应。
Monographs in human genetics Pub Date : 1978-01-01
G Oelsner, Z Kraiem, B Lunenfeld, E Akstein, B Goldman, D M Serr
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引用次数: 0
Chediak-Higashi syndrome I: biochemical abnormality and prospects for prenatal diagnosis. 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
P Hösli, C Griscelli, R A Good
{"title":"Chediak-Higashi syndrome I: biochemical abnormality and prospects for prenatal diagnosis.","authors":"P Hösli, C Griscelli, R A Good","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"9 ","pages":"126-30"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11324856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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