{"title":"Acute intermittent porphyria: detection of carriers.","authors":"M Kreimer-Birnbaum, R Franco-Saenz, P White","doi":"10.1159/000401598","DOIUrl":"https://doi.org/10.1159/000401598","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 ","pages":"227-34"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401598","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11926159","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}
{"title":"Methionine dependent glutamic acid formiminotransferase deficiency: human and experimental studies in its therapy.","authors":"A Russell, M Statter, S Abzug-Horowitz","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"9 ","pages":"65-74"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11933368","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}
{"title":"Phenylketonuria in British Columbia, Canada.","authors":"B Tischler, R B Lowry","doi":"10.1159/000401618","DOIUrl":"https://doi.org/10.1159/000401618","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"9 ","pages":"102-7"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401618","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11933437","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}
{"title":"Biochemical studies on erythropoietic protoporphyria.","authors":"J Van Steveninck, A F de Goeij, T M Dubbelman","doi":"10.1159/000401595","DOIUrl":"https://doi.org/10.1159/000401595","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 ","pages":"212-6"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401595","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11926156","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}
{"title":"Collection and uses of lymphocyte cultures.","authors":"J E Seegmiller","doi":"10.1159/000401645","DOIUrl":"https://doi.org/10.1159/000401645","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"9 ","pages":"244-7"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401645","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11933364","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}
{"title":"Alkaptonuria: prevalence among Bedouins related by consanguinity.","authors":"T Modilevsky, E Manor, A Marmor","doi":"10.1159/000401622","DOIUrl":"https://doi.org/10.1159/000401622","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"9 ","pages":"123-5"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401622","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11933441","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}
{"title":"Juvenile Sandoff disease: report of an additional case with family studies.","authors":"S Wood, D A Applegarth","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"9 ","pages":"182-5"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11933451","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}
{"title":"Nutritional aspects in the treatment of inborn errors.","authors":"N. Zöllner","doi":"10.1159/000401571","DOIUrl":"https://doi.org/10.1159/000401571","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 1","pages":"82-7"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401571","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64812712","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}
{"title":"Benzpyrene metabolism in human diploid fibroblasts.","authors":"W Wöhler, C R Bartram, C C Schürer, H W Rüdiger","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 ","pages":"165-70"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11926151","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}
{"title":"Early detection of thyroid dyshormonogenesis in a breast-fed infant using a filter paper screening method.","authors":"J Sack, D Katznelson, P Czerniak, B Lunenfeld","doi":"10.1159/000401590","DOIUrl":"https://doi.org/10.1159/000401590","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 ","pages":"185-7"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401590","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11926152","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}