Age‐related differences in plasmalogen content of erythrocytes from patients with the cerebro‐hepato‐renal (Zellweger) syndrome: Implications for postnatal detection of the disease
Phosphatidylethanolamine plasmalogen levels were determined in erythrocytes from controls and 13 patients with the cerebro‐hepato‐renal (Zellweger) syndrome. It was found that in Zellweger patients 20 weeks of age or younger, erythrocyte phosphatidylethanolamine plasmalogen levels were lowered where...
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| Veröffentlicht in: | Journal of inherited metabolic disease 1986-12, Vol.9 (4), p.335-342 |
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| container_title | Journal of inherited metabolic disease |
| container_volume | 9 |
| creator | Wanders, R. J. A. Purvis, Y. R. Heymans, H. S. A. Bakkeren, J. A. J. M. Parmentier, G. G. Eldere, J. Eyssen, H. Bosch, H. Tager, J. M. Schutgens, R. B. H. |
| description | Phosphatidylethanolamine plasmalogen levels were determined in erythrocytes from controls and 13 patients with the cerebro‐hepato‐renal (Zellweger) syndrome. It was found that in Zellweger patients 20 weeks of age or younger, erythrocyte phosphatidylethanolamine plasmalogen levels were lowered whereas in older patients (except in one) normal levels were found. The results obtained suggest a close relationship between the age of the patients at sampling and the phosphatidylethanolamine plasmalogen levels in their erythrocytes. A possible explanation for these findings and the implications for the postnatal detection of Zellweger syndrome are discussed. |
| doi_str_mv | 10.1007/BF01800482 |
| format | Article |
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J. A. ; Purvis, Y. R. ; Heymans, H. S. A. ; Bakkeren, J. A. J. M. ; Parmentier, G. G. ; Eldere, J. ; Eyssen, H. ; Bosch, H. ; Tager, J. M. ; Schutgens, R. B. H.</creator><creatorcontrib>Wanders, R. J. A. ; Purvis, Y. R. ; Heymans, H. S. A. ; Bakkeren, J. A. J. M. ; Parmentier, G. G. ; Eldere, J. ; Eyssen, H. ; Bosch, H. ; Tager, J. M. ; Schutgens, R. B. H.</creatorcontrib><description>Phosphatidylethanolamine plasmalogen levels were determined in erythrocytes from controls and 13 patients with the cerebro‐hepato‐renal (Zellweger) syndrome. It was found that in Zellweger patients 20 weeks of age or younger, erythrocyte phosphatidylethanolamine plasmalogen levels were lowered whereas in older patients (except in one) normal levels were found. The results obtained suggest a close relationship between the age of the patients at sampling and the phosphatidylethanolamine plasmalogen levels in their erythrocytes. 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It was found that in Zellweger patients 20 weeks of age or younger, erythrocyte phosphatidylethanolamine plasmalogen levels were lowered whereas in older patients (except in one) normal levels were found. The results obtained suggest a close relationship between the age of the patients at sampling and the phosphatidylethanolamine plasmalogen levels in their erythrocytes. A possible explanation for these findings and the implications for the postnatal detection of Zellweger syndrome are discussed.</description><subject>Biological and medical sciences</subject><subject>Brain - abnormalities</subject><subject>Child, Preschool</subject><subject>Errors of metabolism</subject><subject>Erythrocytes - metabolism</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Kidney - abnormalities</subject><subject>Lipid Metabolism, Inborn Errors - blood</subject><subject>Lipid Metabolism, Inborn Errors - diagnosis</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Liver - abnormalities</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Microbodies - metabolism</subject><subject>Plasmalogens - blood</subject><subject>Syndrome</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1986</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kbGOEzEQhi0EOsJBQ4_kAiFACozX9u6G7jg4CDpEcxXNyvGOEyOvvdiOou14BJ6Hx-FJ8JLo6JAsufi_-UYzQ8hjBq8YQPP67RWwFkC01R2yYLLhy6qu5V2yACbYsl1JeZ88SOkbAKxaKc_IGWcg6gYW5NfFFn__-BnRqYw97a0xGNFrTNR6OjqVBuXCFj3VwWf0mQZDMU55F4OecsFMDAMdVbYlTPRg847mHVJdNJsYinuHJQ1_m3jl6POv6NwBtxhf0DT5vpTjG7oeRmd1sQRflCHSMaTsVS4FPWbUczC3ntW9TagSPiT3jHIJH53-c3Jz9f7m8uPy-suH9eXF9VJXdSOXTSvKzMjFxpTHuFbIa2Y0k1oYNE1VC17WoqUUXPUbANZXwJXilRJSMX5Onh21Ywzf95hyN9ikywzKY9inrmlKOXBRwJdHUMeQUkTTjdEOKk4dg26-U_fvTgV-crLuNwP2t-jpMCV_espV0sqZqLy26RZroWWretbAETtYh9N_Gnaf1p_fAeeS_wFICa9q</recordid><startdate>198612</startdate><enddate>198612</enddate><creator>Wanders, R. 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J. A.</creatorcontrib><creatorcontrib>Purvis, Y. R.</creatorcontrib><creatorcontrib>Heymans, H. S. A.</creatorcontrib><creatorcontrib>Bakkeren, J. A. J. M.</creatorcontrib><creatorcontrib>Parmentier, G. G.</creatorcontrib><creatorcontrib>Eldere, J.</creatorcontrib><creatorcontrib>Eyssen, H.</creatorcontrib><creatorcontrib>Bosch, H.</creatorcontrib><creatorcontrib>Tager, J. M.</creatorcontrib><creatorcontrib>Schutgens, R. B. H.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of inherited metabolic disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wanders, R. J. A.</au><au>Purvis, Y. R.</au><au>Heymans, H. S. A.</au><au>Bakkeren, J. A. J. M.</au><au>Parmentier, G. G.</au><au>Eldere, J.</au><au>Eyssen, H.</au><au>Bosch, H.</au><au>Tager, J. M.</au><au>Schutgens, R. B. H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Age‐related differences in plasmalogen content of erythrocytes from patients with the cerebro‐hepato‐renal (Zellweger) syndrome: Implications for postnatal detection of the disease</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>1986-12</date><risdate>1986</risdate><volume>9</volume><issue>4</issue><spage>335</spage><epage>342</epage><pages>335-342</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><abstract>Phosphatidylethanolamine plasmalogen levels were determined in erythrocytes from controls and 13 patients with the cerebro‐hepato‐renal (Zellweger) syndrome. It was found that in Zellweger patients 20 weeks of age or younger, erythrocyte phosphatidylethanolamine plasmalogen levels were lowered whereas in older patients (except in one) normal levels were found. The results obtained suggest a close relationship between the age of the patients at sampling and the phosphatidylethanolamine plasmalogen levels in their erythrocytes. A possible explanation for these findings and the implications for the postnatal detection of Zellweger syndrome are discussed.</abstract><cop>Dordrecht</cop><pub>Kluwer Academic Publishers</pub><pmid>3104670</pmid><doi>10.1007/BF01800482</doi><tpages>8</tpages></addata></record> |
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| ispartof | Journal of inherited metabolic disease, 1986-12, Vol.9 (4), p.335-342 |
| issn | 0141-8955 1573-2665 |
| language | eng |
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| source | MEDLINE; SpringerNature Journals |
| subjects | Biological and medical sciences Brain - abnormalities Child, Preschool Errors of metabolism Erythrocytes - metabolism Humans Infant Infant, Newborn Kidney - abnormalities Lipid Metabolism, Inborn Errors - blood Lipid Metabolism, Inborn Errors - diagnosis Lipids (lysosomal enzyme disorders, storage diseases) Liver - abnormalities Medical sciences Metabolic diseases Microbodies - metabolism Plasmalogens - blood Syndrome |
| title | Age‐related differences in plasmalogen content of erythrocytes from patients with the cerebro‐hepato‐renal (Zellweger) syndrome: Implications for postnatal detection of the disease |
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