Point mutation in the α-galactosidase A gene of atypical Fabry disease with only nephropathy
- Author
- SAWADA, K1 ; MIZOGUCHI, K; HISHIDA, A1 ; KANEKO, E1 ; KOIDE, Y; NISHIMURA, K; KIMURA, M
[1] First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan - Source
Clinical nephrology. 1996, Vol 45, Num 5, pp 289-294 ; ref : 24 ref
- CODEN
- CLNHBI
- ISSN
- 0301-0430
- Scientific domain
- Urology, nephrology
- Publisher
- Dustri, München-Deisenhofen
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Keyword (fr)
- Adulte Etude cas Forme clinique Lipide Mutation ponctuelle Néphropathie Phénotype Sphingolipidose héréditaire Fabry α-Galactosidase Appareil circulatoire pathologie Appareil urinaire pathologie Enzyme Enzymopathie Glycosidases Homme Hydrolases Lipoïdose Maladie héréditaire Métabolisme pathologie O-Glycosidases Rein pathologie Système nerveux pathologie Vaisseau sanguin pathologie
- Keyword (en)
- Adult Case study Clinical form Lipids Point mutation Nephropathy Phenotype Fabry disease α-Galactosidase Cardiovascular disease Urinary system disease Enzyme Enzymopathy Glycosidases Human Hydrolases Lipoidosis Genetic disease Metabolic diseases O-Glycosidases Renal disease Nervous system diseases Vascular disease
- Keyword (es)
- Adulto Estudio caso Forma clínica Lípido Mutación puntual Nefropatía Fenotipo Esfingolipidosis hereditaria Fabry α-Galactosidase Aparato circulatorio patología Aparato urinario patología Enzima Enzimopatía Glycosidases Hombre Hydrolases Lipoidosis Enfermedad hereditaria Metabolismo patología O-Glycosidases Riñón patología Sistema nervioso patología Vaso sanguíneo patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B14 Nephrology. Urinary tract diseases / 002B14A Nephropathies. Renovascular diseases. Renal failure / 002B14A01 Glomerulonephritis
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D05 Miscellaneous hereditary metabolic disorders
- Discipline
- Metabolic diseases Nephrology. Urinary tract diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 3084900
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
Install on your browser
"O:13:\"PanistOpenUrl\":36:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000idc\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:93:\"Point mutation in the \u03b1-galactosidase A gene of atypical Fabry disease with only nephropathy\";s:9:\"\u0000*\u0000jtitle\";s:19:\"Clinical nephrology\";s:9:\"\u0000*\u0000stitle\";s:13:\"Clin. nephrol\";s:7:\"\u0000*\u0000date\";s:4:\"1996\";s:9:\"\u0000*\u0000volume\";s:2:\"45\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:3:\"289\";s:8:\"\u0000*\u0000epage\";s:3:\"294\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0301-0430\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"SAWADA\";s:10:\"\u0000*\u0000aufirst\";s:1:\"K\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:6:{i:0;s:12:\"MIZOGUCHI, K\";i:1;s:10:\"HISHIDA, A\";i:2;s:9:\"KANEKO, E\";i:3;s:8:\"KOIDE, Y\";i:4;s:12:\"NISHIMURA, K\";i:5;s:9:\"KIMURA, M\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"CLNHBI\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:93:\"Point mutation in the \u03b1-galactosidase A gene of atypical Fabry disease with only nephropathy\";s:8:\"\u0000*\u0000place\";s:20:\"M\u00fcnchen-Deisenhofen\";s:6:\"\u0000*\u0000pub\";s:6:\"Dustri\";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:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:93:\"Point mutation in the \u03b1-galactosidase A gene of atypical Fabry disease with only nephropathy\";s:9:\"\u0000*\u0000jtitle\";s:19:\"Clinical nephrology\";s:9:\"\u0000*\u0000stitle\";s:13:\"Clin. nephrol\";s:7:\"\u0000*\u0000date\";s:4:\"1996\";s:9:\"\u0000*\u0000volume\";s:2:\"45\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:3:\"289\";s:8:\"\u0000*\u0000epage\";s:3:\"294\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0301-0430\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"SAWADA\";s:10:\"\u0000*\u0000aufirst\";s:1:\"K\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:6:{i:0;s:12:\"MIZOGUCHI, K\";i:1;s:10:\"HISHIDA, A\";i:2;s:9:\"KANEKO, E\";i:3;s:8:\"KOIDE, Y\";i:4;s:12:\"NISHIMURA, K\";i:5;s:9:\"KIMURA, M\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"CLNHBI\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:93:\"Point mutation in the \u03b1-galactosidase A gene of atypical Fabry disease with only nephropathy\";s:8:\"\u0000*\u0000place\";s:20:\"M\u00fcnchen-Deisenhofen\";s:6:\"\u0000*\u0000pub\";s:6:\"Dustri\";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:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:93:\"Point mutation in the \u03b1-galactosidase A gene of atypical Fabry disease with only nephropathy\";s:9:\"\u0000*\u0000jtitle\";s:19:\"Clinical nephrology\";s:9:\"\u0000*\u0000stitle\";s:13:\"Clin. nephrol\";s:7:\"\u0000*\u0000date\";s:4:\"1996\";s:9:\"\u0000*\u0000volume\";s:2:\"45\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:3:\"289\";s:8:\"\u0000*\u0000epage\";s:3:\"294\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0301-0430\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"SAWADA\";s:10:\"\u0000*\u0000aufirst\";s:1:\"K\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:6:{i:0;s:12:\"MIZOGUCHI, K\";i:1;s:10:\"HISHIDA, A\";i:2;s:9:\"KANEKO, E\";i:3;s:8:\"KOIDE, Y\";i:4;s:12:\"NISHIMURA, K\";i:5;s:9:\"KIMURA, M\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"CLNHBI\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:93:\"Point mutation in the \u03b1-galactosidase A gene of atypical Fabry disease with only nephropathy\";s:8:\"\u0000*\u0000place\";s:20:\"M\u00fcnchen-Deisenhofen\";s:6:\"\u0000*\u0000pub\";s:6:\"Dustri\";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:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:93:\"Point mutation in the \u03b1-galactosidase A gene of atypical Fabry disease with only nephropathy\";s:9:\"\u0000*\u0000jtitle\";s:19:\"Clinical nephrology\";s:9:\"\u0000*\u0000stitle\";s:13:\"Clin. nephrol\";s:7:\"\u0000*\u0000date\";s:4:\"1996\";s:9:\"\u0000*\u0000volume\";s:2:\"45\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:3:\"289\";s:8:\"\u0000*\u0000epage\";s:3:\"294\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0301-0430\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"SAWADA\";s:10:\"\u0000*\u0000aufirst\";s:1:\"K\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:6:{i:0;s:12:\"MIZOGUCHI, K\";i:1;s:10:\"HISHIDA, A\";i:2;s:9:\"KANEKO, E\";i:3;s:8:\"KOIDE, Y\";i:4;s:12:\"NISHIMURA, K\";i:5;s:9:\"KIMURA, M\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"CLNHBI\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:93:\"Point mutation in the \u03b1-galactosidase A gene of atypical Fabry disease with only nephropathy\";s:8:\"\u0000*\u0000place\";s:20:\"M\u00fcnchen-Deisenhofen\";s:6:\"\u0000*\u0000pub\";s:6:\"Dustri\";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:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:93:\"Point mutation in the \u03b1-galactosidase A gene of atypical Fabry disease with only nephropathy\";s:9:\"\u0000*\u0000jtitle\";s:19:\"Clinical nephrology\";s:9:\"\u0000*\u0000stitle\";s:13:\"Clin. nephrol\";s:7:\"\u0000*\u0000date\";s:4:\"1996\";s:9:\"\u0000*\u0000volume\";s:2:\"45\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:3:\"289\";s:8:\"\u0000*\u0000epage\";s:3:\"294\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0301-0430\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:6:\"SAWADA\";s:10:\"\u0000*\u0000aufirst\";s:1:\"K\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:6:{i:0;s:12:\"MIZOGUCHI, K\";i:1;s:10:\"HISHIDA, A\";i:2;s:9:\"KANEKO, E\";i:3;s:8:\"KOIDE, Y\";i:4;s:12:\"NISHIMURA, K\";i:5;s:9:\"KIMURA, M\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"CLNHBI\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:93:\"Point mutation in the \u03b1-galactosidase A gene of atypical Fabry disease with only nephropathy\";s:8:\"\u0000*\u0000place\";s:20:\"M\u00fcnchen-Deisenhofen\";s:6:\"\u0000*\u0000pub\";s:6:\"Dustri\";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
