Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria:
394 finding by Dr C. Jakobs, Amsterdam, was elevated plasma galactitol and/or sorbitol levels in some cataract patients with quite normal activities of the galactose-degrading enzymes and sorbitol dehydrogenase in RBC. Inherited disorders of glycoprotein metabolism were reviewed by Dr M. Cantz, Heid...
Gespeichert in:
| Weitere Verfasser: | , , |
|---|---|
| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
Dordrecht
Springer Netherlands
1990
|
| Schlagworte: | |
| Online-Zugang: | UBR01 URL des Erstveröffentlichers |
| Zusammenfassung: | 394 finding by Dr C. Jakobs, Amsterdam, was elevated plasma galactitol and/or sorbitol levels in some cataract patients with quite normal activities of the galactose-degrading enzymes and sorbitol dehydrogenase in RBC. Inherited disorders of glycoprotein metabolism were reviewed by Dr M. Cantz, Heidelberg, followed by detailed presentations on selected disorders. The meeting was closed by two exciting lectures, given by Dr J. R. Hobbs, London, and Dr F. Ledley, Houston, on the outcome of bone marrow transplantation and on future aspects of gene therapy in patients with inborn errors of metabolism. Each year the 'Mini' Symposium preceding the main topics attracts increasing numbers and in Munich more than half of the 281 active participants also attended on "Maternal Phenylketonuria", organized by Dr the highly interesting workshop D. Brenton, London. This four-hour workshop included international practical experiences in the treatment of maternal phenylketonuria as well as the results of amino acid transport and animal experiments |
| Beschreibung: | 1 Online-Ressource (288 p. 6 illus) |
| ISBN: | 9789400921757 |
| DOI: | 10.1007/978-94-009-2175-7 |
Internformat
MARC
| LEADER | 00000nmm a2200000zc 4500 | ||
|---|---|---|---|
| 001 | BV046144486 | ||
| 003 | DE-604 | ||
| 005 | 00000000000000.0 | ||
| 007 | cr|uuu---uuuuu | ||
| 008 | 190905s1990 |||| o||u| ||||||eng d | ||
| 020 | |a 9789400921757 |9 978-94-009-2175-7 | ||
| 024 | 7 | |a 10.1007/978-94-009-2175-7 |2 doi | |
| 035 | |a (ZDB-2-SME)978-94-009-2175-7 | ||
| 035 | |a (OCoLC)1119015239 | ||
| 035 | |a (DE-599)BVBBV046144486 | ||
| 040 | |a DE-604 |b ger |e aacr | ||
| 041 | 0 | |a eng | |
| 049 | |a DE-355 | ||
| 082 | 0 | |a 616 |2 23 | |
| 245 | 1 | 0 | |a Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria |c edited by R. A. Harkness, R. J. Pollitt, G. M. Addison |
| 264 | 1 | |a Dordrecht |b Springer Netherlands |c 1990 | |
| 300 | |a 1 Online-Ressource (288 p. 6 illus) | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b c |2 rdamedia | ||
| 338 | |b cr |2 rdacarrier | ||
| 520 | |a 394 finding by Dr C. Jakobs, Amsterdam, was elevated plasma galactitol and/or sorbitol levels in some cataract patients with quite normal activities of the galactose-degrading enzymes and sorbitol dehydrogenase in RBC. Inherited disorders of glycoprotein metabolism were reviewed by Dr M. Cantz, Heidelberg, followed by detailed presentations on selected disorders. The meeting was closed by two exciting lectures, given by Dr J. R. Hobbs, London, and Dr F. Ledley, Houston, on the outcome of bone marrow transplantation and on future aspects of gene therapy in patients with inborn errors of metabolism. Each year the 'Mini' Symposium preceding the main topics attracts increasing numbers and in Munich more than half of the 281 active participants also attended on "Maternal Phenylketonuria", organized by Dr the highly interesting workshop D. Brenton, London. This four-hour workshop included international practical experiences in the treatment of maternal phenylketonuria as well as the results of amino acid transport and animal experiments | ||
| 650 | 4 | |a Internal Medicine | |
| 650 | 4 | |a Pediatrics | |
| 650 | 4 | |a Medical Biochemistry | |
| 650 | 4 | |a Human Genetics | |
| 650 | 4 | |a Internal medicine | |
| 650 | 4 | |a Pediatrics | |
| 650 | 4 | |a Biochemistry | |
| 650 | 4 | |a Human genetics | |
| 700 | 1 | |a Harkness, R. A. |4 edt | |
| 700 | 1 | |a Pollitt, R. J. |4 edt | |
| 700 | 1 | |a Addison, G. M. |4 edt | |
| 776 | 0 | 8 | |i Erscheint auch als |n Druck-Ausgabe |z 9780792389477 |
| 776 | 0 | 8 | |i Erscheint auch als |n Druck-Ausgabe |z 9789400921764 |
| 856 | 4 | 0 | |u https://doi.org/10.1007/978-94-009-2175-7 |x Verlag |z URL des Erstveröffentlichers |3 Volltext |
| 912 | |a ZDB-2-SME | ||
| 940 | 1 | |q ZDB-2-SME_1990/2004 | |
| 999 | |a oai:aleph.bib-bvb.de:BVB01-031524671 | ||
| 966 | e | |u https://doi.org/10.1007/978-94-009-2175-7 |l UBR01 |p ZDB-2-SME |q ZDB-2-SME_1990/2004 |x Verlag |3 Volltext | |
Datensatz im Suchindex
| _version_ | 1804180479938658304 |
|---|---|
| any_adam_object | |
| author2 | Harkness, R. A. Pollitt, R. J. Addison, G. M. |
| author2_role | edt edt edt |
| author2_variant | r a h ra rah r j p rj rjp g m a gm gma |
| author_facet | Harkness, R. A. Pollitt, R. J. Addison, G. M. |
| building | Verbundindex |
| bvnumber | BV046144486 |
| collection | ZDB-2-SME |
| ctrlnum | (ZDB-2-SME)978-94-009-2175-7 (OCoLC)1119015239 (DE-599)BVBBV046144486 |
| dewey-full | 616 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 616 - Diseases |
| dewey-raw | 616 |
| dewey-search | 616 |
| dewey-sort | 3616 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| doi_str_mv | 10.1007/978-94-009-2175-7 |
| format | Electronic eBook |
| fullrecord | <?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>02718nmm a2200493zc 4500</leader><controlfield tag="001">BV046144486</controlfield><controlfield tag="003">DE-604</controlfield><controlfield tag="005">00000000000000.0</controlfield><controlfield tag="007">cr|uuu---uuuuu</controlfield><controlfield tag="008">190905s1990 |||| o||u| ||||||eng d</controlfield><datafield tag="020" ind1=" " ind2=" "><subfield code="a">9789400921757</subfield><subfield code="9">978-94-009-2175-7</subfield></datafield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1007/978-94-009-2175-7</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ZDB-2-SME)978-94-009-2175-7</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)1119015239</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)BVBBV046144486</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-604</subfield><subfield code="b">ger</subfield><subfield code="e">aacr</subfield></datafield><datafield tag="041" ind1="0" ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="049" ind1=" " ind2=" "><subfield code="a">DE-355</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">616</subfield><subfield code="2">23</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria</subfield><subfield code="c">edited by R. A. Harkness, R. J. Pollitt, G. M. Addison</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="a">Dordrecht</subfield><subfield code="b">Springer Netherlands</subfield><subfield code="c">1990</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">1 Online-Ressource (288 p. 6 illus)</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">394 finding by Dr C. Jakobs, Amsterdam, was elevated plasma galactitol and/or sorbitol levels in some cataract patients with quite normal activities of the galactose-degrading enzymes and sorbitol dehydrogenase in RBC. Inherited disorders of glycoprotein metabolism were reviewed by Dr M. Cantz, Heidelberg, followed by detailed presentations on selected disorders. The meeting was closed by two exciting lectures, given by Dr J. R. Hobbs, London, and Dr F. Ledley, Houston, on the outcome of bone marrow transplantation and on future aspects of gene therapy in patients with inborn errors of metabolism. Each year the 'Mini' Symposium preceding the main topics attracts increasing numbers and in Munich more than half of the 281 active participants also attended on "Maternal Phenylketonuria", organized by Dr the highly interesting workshop D. Brenton, London. This four-hour workshop included international practical experiences in the treatment of maternal phenylketonuria as well as the results of amino acid transport and animal experiments</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Internal Medicine</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Pediatrics</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Medical Biochemistry</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Human Genetics</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Internal medicine</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Pediatrics</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Biochemistry</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Human genetics</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Harkness, R. A.</subfield><subfield code="4">edt</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Pollitt, R. J.</subfield><subfield code="4">edt</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Addison, G. M.</subfield><subfield code="4">edt</subfield></datafield><datafield tag="776" ind1="0" ind2="8"><subfield code="i">Erscheint auch als</subfield><subfield code="n">Druck-Ausgabe</subfield><subfield code="z">9780792389477</subfield></datafield><datafield tag="776" ind1="0" ind2="8"><subfield code="i">Erscheint auch als</subfield><subfield code="n">Druck-Ausgabe</subfield><subfield code="z">9789400921764</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1007/978-94-009-2175-7</subfield><subfield code="x">Verlag</subfield><subfield code="z">URL des Erstveröffentlichers</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">ZDB-2-SME</subfield></datafield><datafield tag="940" ind1="1" ind2=" "><subfield code="q">ZDB-2-SME_1990/2004</subfield></datafield><datafield tag="999" ind1=" " ind2=" "><subfield code="a">oai:aleph.bib-bvb.de:BVB01-031524671</subfield></datafield><datafield tag="966" ind1="e" ind2=" "><subfield code="u">https://doi.org/10.1007/978-94-009-2175-7</subfield><subfield code="l">UBR01</subfield><subfield code="p">ZDB-2-SME</subfield><subfield code="q">ZDB-2-SME_1990/2004</subfield><subfield code="x">Verlag</subfield><subfield code="3">Volltext</subfield></datafield></record></collection> |
| id | DE-604.BV046144486 |
| illustrated | Not Illustrated |
| indexdate | 2024-07-10T08:36:25Z |
| institution | BVB |
| isbn | 9789400921757 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-031524671 |
| oclc_num | 1119015239 |
| open_access_boolean | |
| owner | DE-355 DE-BY-UBR |
| owner_facet | DE-355 DE-BY-UBR |
| physical | 1 Online-Ressource (288 p. 6 illus) |
| psigel | ZDB-2-SME ZDB-2-SME_1990/2004 ZDB-2-SME ZDB-2-SME_1990/2004 |
| publishDate | 1990 |
| publishDateSearch | 1990 |
| publishDateSort | 1990 |
| publisher | Springer Netherlands |
| record_format | marc |
| spelling | Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria edited by R. A. Harkness, R. J. Pollitt, G. M. Addison Dordrecht Springer Netherlands 1990 1 Online-Ressource (288 p. 6 illus) txt rdacontent c rdamedia cr rdacarrier 394 finding by Dr C. Jakobs, Amsterdam, was elevated plasma galactitol and/or sorbitol levels in some cataract patients with quite normal activities of the galactose-degrading enzymes and sorbitol dehydrogenase in RBC. Inherited disorders of glycoprotein metabolism were reviewed by Dr M. Cantz, Heidelberg, followed by detailed presentations on selected disorders. The meeting was closed by two exciting lectures, given by Dr J. R. Hobbs, London, and Dr F. Ledley, Houston, on the outcome of bone marrow transplantation and on future aspects of gene therapy in patients with inborn errors of metabolism. Each year the 'Mini' Symposium preceding the main topics attracts increasing numbers and in Munich more than half of the 281 active participants also attended on "Maternal Phenylketonuria", organized by Dr the highly interesting workshop D. Brenton, London. This four-hour workshop included international practical experiences in the treatment of maternal phenylketonuria as well as the results of amino acid transport and animal experiments Internal Medicine Pediatrics Medical Biochemistry Human Genetics Internal medicine Biochemistry Human genetics Harkness, R. A. edt Pollitt, R. J. edt Addison, G. M. edt Erscheint auch als Druck-Ausgabe 9780792389477 Erscheint auch als Druck-Ausgabe 9789400921764 https://doi.org/10.1007/978-94-009-2175-7 Verlag URL des Erstveröffentlichers Volltext |
| spellingShingle | Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria Internal Medicine Pediatrics Medical Biochemistry Human Genetics Internal medicine Biochemistry Human genetics |
| title | Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria |
| title_auth | Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria |
| title_exact_search | Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria |
| title_full | Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria edited by R. A. Harkness, R. J. Pollitt, G. M. Addison |
| title_fullStr | Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria edited by R. A. Harkness, R. J. Pollitt, G. M. Addison |
| title_full_unstemmed | Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria edited by R. A. Harkness, R. J. Pollitt, G. M. Addison |
| title_short | Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria |
| title_sort | carbohydrate and glycoprotein metabolism maternal phenylketonuria |
| topic | Internal Medicine Pediatrics Medical Biochemistry Human Genetics Internal medicine Biochemistry Human genetics |
| topic_facet | Internal Medicine Pediatrics Medical Biochemistry Human Genetics Internal medicine Biochemistry Human genetics |
| url | https://doi.org/10.1007/978-94-009-2175-7 |
| work_keys_str_mv | AT harknessra carbohydrateandglycoproteinmetabolismmaternalphenylketonuria AT pollittrj carbohydrateandglycoproteinmetabolismmaternalphenylketonuria AT addisongm carbohydrateandglycoproteinmetabolismmaternalphenylketonuria |