{"title":"Prenatal diagnosis of genetic metabolic diseases in 118 pregnancies at risk.","authors":"W J Kleijer, M F Niermeijer, H Galjaard","doi":"10.1159/000401639","DOIUrl":"https://doi.org/10.1159/000401639","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"9 ","pages":"217-21"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401639","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11773148","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":"A new type of heterozygote of familial renal iminoglycinuria.","authors":"E A Law, I B Sardharwalla","doi":"10.1159/000401628","DOIUrl":"https://doi.org/10.1159/000401628","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"9 ","pages":"152-4"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401628","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11933446","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":"Erythrocyte glutathione reductase in gout and in glucose-6-phosphate dehydrogenase deficiency.","authors":"O Wasserzug, A Szeinberg, O Sperling","doi":"10.1159/000401604","DOIUrl":"https://doi.org/10.1159/000401604","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"9 ","pages":"16-9"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401604","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11933448","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}
A Arbisser, L B Arbisser, C A Garcia, M Akhtar, C M Moore, R R Howell
{"title":"Ocular findings in acid lipase deficiency.","authors":"A Arbisser, L B Arbisser, C A Garcia, M Akhtar, C M Moore, R R Howell","doi":"10.1159/000401635","DOIUrl":"https://doi.org/10.1159/000401635","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"9 ","pages":"193-7"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401635","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11933453","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":"Uptake of purine bases by HGPRT deficient erythrocytes.","authors":"M M Müller, M Kraupp, G Falkner, C H de Bruyn","doi":"10.1159/000401579","DOIUrl":"https://doi.org/10.1159/000401579","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 ","pages":"116-21"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401579","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11926143","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":"Hereditary coproporphyria: demonstration of a genetic defect in coproporphyrinogen metabolism.","authors":"Y Nordmann, B Grandchamp","doi":"10.1159/000401596","DOIUrl":"https://doi.org/10.1159/000401596","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 ","pages":"217-22"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401596","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11926157","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":"Studies on the pathogenesis of mucolipidosis.","authors":"H Yabuuchi, S Okada, M Nishigaki, A Kobata","doi":"10.1159/000401561","DOIUrl":"https://doi.org/10.1159/000401561","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 ","pages":"27-31"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401561","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11926161","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":"Sanfilippo B disease in two related sibships. Biochemical studies in patients and sibs.","authors":"K O Liem, G J Hooghwinkel","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 ","pages":"11-5"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11322865","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}
H Landau, E Lasch, I M Spitz, I A Amara, A Russell
{"title":"Hypothalamic-pituitary axis in total lipodystrophy.","authors":"H Landau, E Lasch, I M Spitz, I A Amara, A Russell","doi":"10.1159/000401591","DOIUrl":"https://doi.org/10.1159/000401591","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"10 ","pages":"188-91"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401591","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11322866","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}
B E Cohen, A Szeinberg, Y Levine, I Peled, S Pollack, M Crispin, M Normand
{"title":"Phenylketonuria (PKU) in Israel.","authors":"B E Cohen, A Szeinberg, Y Levine, I Peled, S Pollack, M Crispin, M Normand","doi":"10.1159/000401617","DOIUrl":"https://doi.org/10.1159/000401617","url":null,"abstract":"","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"9 ","pages":"95-101"},"PeriodicalIF":0.0,"publicationDate":"1978-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000401617","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"11933372","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}
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