The biochemical and molecular spectrum of ornithine transcarbamylase deficiency
- Author
- TUCHMAN, M1 ; MORIZONO, H1 ; RAJAGOPAL, B. S1 ; PLANTE, R. J1 ; ALLEWELL, N. M2
[1] Departments of Pediatrics and Laboratory Medicine & Pathology, Medical School, University of Minnesota, Minneapolis/St. Paul, Minnesota, United States
[2] Department of Biochemistry, College of Biological Sciences, University of Minnesota, Minneapolis/St. Paul, Minnesota, United States - Conference title
- Satellite Symposium on Advances in Inherited Urea Cycle Disorders
- Conference name
- Satellite Symposium on Advances in Inherited Urea Cycle Disorders (Vienna 1997-05-20)
- Author (monograph)
- BATSHAW, Mark L (Editor)1 ; BACHMANN, Claude (Editor)2 ; TUCHMAN, Mendel (Editor)3
[1] Department of Pediatrics, University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, Children's Seash ore House, Philadelphia, Pennsylvania, United States
[2] Central Clinical Chemistry Laboratory, CHUV, Bugnon 46, 1011 Lausanne, Switzerland
[3] Departments of Pediatrics and Laboratory Medicine & Pathology, Medical School, University of Minnesota, Minneapolis, MN 55455, United States - Source
Journal of inherited metabolic disease. 1998, Vol 21, pp 40-58 ; SUP1 ; ref : 15 ref
- CODEN
- JIMDDP
- ISSN
- 0141-8955
- Scientific domain
- Genetics; Nutrition, obesity, metabolic disorders
- Publisher
- Springer, Dordrecht
- Publication country
- Netherlands
- Document type
- Conference Paper
- Language
- English
- Keyword (fr)
- Article synthèse Déficit Déterminisme génétique Etiologie Gène Homme Mutation Ornithine carbamoyltransferase Polymorphisme Aminoacidopathie Cycle urée Enzyme Maladie héréditaire Métabolisme pathologie Transferases
- Keyword (en)
- Review Deficiency Genetic determinism Etiology Gene Human Mutation Ornithine carbamoyltransferase Polymorphism Aminoacid disorder Urea cycle Enzyme Genetic disease Metabolic diseases Transferases
- Keyword (es)
- Artículo síntesis Déficiencia Determinismo genético Etiología Gen Hombre Mutación Ornithine carbamoyltransferase Polimorfismo Aminoacido alteración Ciclo urea Enzima Enfermedad hereditaria Metabolismo patología Transferases
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D01 Aminoacid disorders
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2383498
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
Access to the document
Install on your browser
DOI
10.1023/A:1005353407220 
https://dx.doi.org/10.1023/A:1005353407220
"O:13:\"PanistOpenUrl\":36:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000idc\";N;s:6:\"\u0000*\u0000fmt\";s:10:\"proceeding\";s:6:\"\u0000*\u0000doi\";s:23:\"10.1023\/A:1005353407220\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:79:\"The biochemical and molecular spectrum of ornithine transcarbamylase deficiency\";s:9:\"\u0000*\u0000jtitle\";s:38:\"Journal of inherited metabolic disease\";s:9:\"\u0000*\u0000stitle\";s:22:\"J. inherit. metab. dis\";s:7:\"\u0000*\u0000date\";s:4:\"1998\";s:9:\"\u0000*\u0000volume\";s:2:\"21\";s:8:\"\u0000*\u0000issue\";s:0:\"\";s:8:\"\u0000*\u0000spage\";s:2:\"40\";s:8:\"\u0000*\u0000epage\";s:2:\"58\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0141-8955\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"TUCHMAN\";s:10:\"\u0000*\u0000aufirst\";s:1:\"M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:4:{i:0;s:11:\"MORIZONO, H\";i:1;s:15:\"RAJAGOPAL, B. S\";i:2;s:12:\"PLANTE, R. J\";i:3;s:14:\"ALLEWELL, N. M\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JIMDDP\";s:8:\"\u0000*\u0000genre\";s:10:\"proceeding\";s:7:\"\u0000*\u0000part\";s:4:\"SUP1\";s:9:\"\u0000*\u0000btitle\";s:65:\"Satellite Symposium on Advances in Inherited Urea Cycle Disorders\";s:8:\"\u0000*\u0000title\";s:79:\"The biochemical and molecular spectrum of ornithine transcarbamylase deficiency\";s:8:\"\u0000*\u0000place\";s:9:\"Dordrecht\";s:6:\"\u0000*\u0000pub\";s:8:\"Springer\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Panist access
"O:12:\"IstexOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:10:\"proceeding\";s:6:\"\u0000*\u0000doi\";s:23:\"10.1023\/A:1005353407220\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:79:\"The biochemical and molecular spectrum of ornithine transcarbamylase deficiency\";s:9:\"\u0000*\u0000jtitle\";s:38:\"Journal of inherited metabolic disease\";s:9:\"\u0000*\u0000stitle\";s:22:\"J. inherit. metab. dis\";s:7:\"\u0000*\u0000date\";s:4:\"1998\";s:9:\"\u0000*\u0000volume\";s:2:\"21\";s:8:\"\u0000*\u0000issue\";s:0:\"\";s:8:\"\u0000*\u0000spage\";s:2:\"40\";s:8:\"\u0000*\u0000epage\";s:2:\"58\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0141-8955\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"TUCHMAN\";s:10:\"\u0000*\u0000aufirst\";s:1:\"M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:4:{i:0;s:11:\"MORIZONO, H\";i:1;s:15:\"RAJAGOPAL, B. S\";i:2;s:12:\"PLANTE, R. J\";i:3;s:14:\"ALLEWELL, N. M\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JIMDDP\";s:8:\"\u0000*\u0000genre\";s:10:\"proceeding\";s:7:\"\u0000*\u0000part\";s:4:\"SUP1\";s:9:\"\u0000*\u0000btitle\";s:65:\"Satellite Symposium on Advances in Inherited Urea Cycle Disorders\";s:8:\"\u0000*\u0000title\";s:79:\"The biochemical and molecular spectrum of ornithine transcarbamylase deficiency\";s:8:\"\u0000*\u0000place\";s:9:\"Dordrecht\";s:6:\"\u0000*\u0000pub\";s:8:\"Springer\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Istex access
"O:16:\"UnpaywallOpenUrl\":35:{s:8:\"\u0000*\u0000email\";s:27:\"assistance-portail@inist.fr\";s:6:\"\u0000*\u0000fmt\";N;s:6:\"\u0000*\u0000doi\";s:23:\"10.1023\/A:1005353407220\";s:6:\"\u0000*\u0000pii\";N;s:7:\"\u0000*\u0000pmid\";N;s:9:\"\u0000*\u0000atitle\";N;s:9:\"\u0000*\u0000jtitle\";N;s:9:\"\u0000*\u0000stitle\";N;s:7:\"\u0000*\u0000date\";N;s:9:\"\u0000*\u0000volume\";N;s:8:\"\u0000*\u0000issue\";N;s:8:\"\u0000*\u0000spage\";N;s:8:\"\u0000*\u0000epage\";N;s:8:\"\u0000*\u0000pages\";N;s:7:\"\u0000*\u0000issn\";N;s:8:\"\u0000*\u0000eissn\";N;s:9:\"\u0000*\u0000aulast\";N;s:10:\"\u0000*\u0000aufirst\";N;s:9:\"\u0000*\u0000auinit\";N;s:10:\"\u0000*\u0000auinitm\";N;s:5:\"\u0000*\u0000au\";N;s:9:\"\u0000*\u0000aucorp\";N;s:7:\"\u0000*\u0000isbn\";N;s:8:\"\u0000*\u0000coden\";N;s:8:\"\u0000*\u0000genre\";N;s:7:\"\u0000*\u0000part\";N;s:9:\"\u0000*\u0000btitle\";N;s:8:\"\u0000*\u0000title\";N;s:8:\"\u0000*\u0000place\";N;s:6:\"\u0000*\u0000pub\";N;s:10:\"\u0000*\u0000edition\";N;s:9:\"\u0000*\u0000tpages\";N;s:9:\"\u0000*\u0000series\";N;s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";N;}"
Unpaywall access
"O:16:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:10:\"proceeding\";s:6:\"\u0000*\u0000doi\";s:23:\"10.1023\/A:1005353407220\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:79:\"The biochemical and molecular spectrum of ornithine transcarbamylase deficiency\";s:9:\"\u0000*\u0000jtitle\";s:38:\"Journal of inherited metabolic disease\";s:9:\"\u0000*\u0000stitle\";s:22:\"J. inherit. metab. dis\";s:7:\"\u0000*\u0000date\";s:4:\"1998\";s:9:\"\u0000*\u0000volume\";s:2:\"21\";s:8:\"\u0000*\u0000issue\";s:0:\"\";s:8:\"\u0000*\u0000spage\";s:2:\"40\";s:8:\"\u0000*\u0000epage\";s:2:\"58\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0141-8955\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"TUCHMAN\";s:10:\"\u0000*\u0000aufirst\";s:1:\"M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:4:{i:0;s:11:\"MORIZONO, H\";i:1;s:15:\"RAJAGOPAL, B. S\";i:2;s:12:\"PLANTE, R. J\";i:3;s:14:\"ALLEWELL, N. M\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JIMDDP\";s:8:\"\u0000*\u0000genre\";s:10:\"proceeding\";s:7:\"\u0000*\u0000part\";s:4:\"SUP1\";s:9:\"\u0000*\u0000btitle\";s:65:\"Satellite Symposium on Advances in Inherited Urea Cycle Disorders\";s:8:\"\u0000*\u0000title\";s:79:\"The biochemical and molecular spectrum of ornithine transcarbamylase deficiency\";s:8:\"\u0000*\u0000place\";s:9:\"Dordrecht\";s:6:\"\u0000*\u0000pub\";s:8:\"Springer\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Europe PubMed Central access
"O:11:\"BaseOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:10:\"proceeding\";s:6:\"\u0000*\u0000doi\";s:23:\"10.1023\/A:1005353407220\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:79:\"The biochemical and molecular spectrum of ornithine transcarbamylase deficiency\";s:9:\"\u0000*\u0000jtitle\";s:38:\"Journal of inherited metabolic disease\";s:9:\"\u0000*\u0000stitle\";s:22:\"J. inherit. metab. dis\";s:7:\"\u0000*\u0000date\";s:4:\"1998\";s:9:\"\u0000*\u0000volume\";s:2:\"21\";s:8:\"\u0000*\u0000issue\";s:0:\"\";s:8:\"\u0000*\u0000spage\";s:2:\"40\";s:8:\"\u0000*\u0000epage\";s:2:\"58\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0141-8955\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"TUCHMAN\";s:10:\"\u0000*\u0000aufirst\";s:1:\"M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:4:{i:0;s:11:\"MORIZONO, H\";i:1;s:15:\"RAJAGOPAL, B. S\";i:2;s:12:\"PLANTE, R. J\";i:3;s:14:\"ALLEWELL, N. M\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JIMDDP\";s:8:\"\u0000*\u0000genre\";s:10:\"proceeding\";s:7:\"\u0000*\u0000part\";s:4:\"SUP1\";s:9:\"\u0000*\u0000btitle\";s:65:\"Satellite Symposium on Advances in Inherited Urea Cycle Disorders\";s:8:\"\u0000*\u0000title\";s:79:\"The biochemical and molecular spectrum of ornithine transcarbamylase deficiency\";s:8:\"\u0000*\u0000place\";s:9:\"Dordrecht\";s:6:\"\u0000*\u0000pub\";s:8:\"Springer\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Base Search access
"O:12:\"ArXivOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:10:\"proceeding\";s:6:\"\u0000*\u0000doi\";s:23:\"10.1023\/A:1005353407220\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:79:\"The biochemical and molecular spectrum of ornithine transcarbamylase deficiency\";s:9:\"\u0000*\u0000jtitle\";s:38:\"Journal of inherited metabolic disease\";s:9:\"\u0000*\u0000stitle\";s:22:\"J. inherit. metab. dis\";s:7:\"\u0000*\u0000date\";s:4:\"1998\";s:9:\"\u0000*\u0000volume\";s:2:\"21\";s:8:\"\u0000*\u0000issue\";s:0:\"\";s:8:\"\u0000*\u0000spage\";s:2:\"40\";s:8:\"\u0000*\u0000epage\";s:2:\"58\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0141-8955\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"TUCHMAN\";s:10:\"\u0000*\u0000aufirst\";s:1:\"M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:4:{i:0;s:11:\"MORIZONO, H\";i:1;s:15:\"RAJAGOPAL, B. S\";i:2;s:12:\"PLANTE, R. J\";i:3;s:14:\"ALLEWELL, N. M\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JIMDDP\";s:8:\"\u0000*\u0000genre\";s:10:\"proceeding\";s:7:\"\u0000*\u0000part\";s:4:\"SUP1\";s:9:\"\u0000*\u0000btitle\";s:65:\"Satellite Symposium on Advances in Inherited Urea Cycle Disorders\";s:8:\"\u0000*\u0000title\";s:79:\"The biochemical and molecular spectrum of ornithine transcarbamylase deficiency\";s:8:\"\u0000*\u0000place\";s:9:\"Dordrecht\";s:6:\"\u0000*\u0000pub\";s:8:\"Springer\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
arXiv access
