Ataxia de friedreich: variabilidad fenotípica. A propósito de cuatro casos (dos parejas de hermanos) = (Record no. 11452)
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| fixed length control field | 02681nas a22002777a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | OSt |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20210430110209.0 |
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| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
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| fixed length control field | 171219t2010 sp ||||| |||| 00| 0 spa | |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0211-5638 |
| 040 ## - CATALOGING SOURCE | |
| Transcribing agency | Salus Infirmorum |
| 245 00 - TITLE STATEMENT | |
| Title | Ataxia de friedreich: variabilidad fenotípica. A propósito de cuatro casos (dos parejas de hermanos) = |
| Remainder of title | Friedreich's Ataxia: Phenotypic variability: 4-case reports (two sets of siblings) / |
| Statement of responsibility, etc. | Inés Gago Fernández, Jesús Seco Calvo |
| 500 ## - GENERAL NOTE | |
| General note | Este artículo se encuentra disponible en su edición impresa. |
| 504 ## - BIBLIOGRAPHY, ETC. NOTE | |
| Bibliography, etc. note | Bibliografía: p.194 |
| 520 3# - SUMMARY, ETC. | |
| Summary, etc. | Objetivo<br/>El objetivo de este estudio es valorar la diversidad en el fenotipo clínico de la ataxia de Friedreich y la interferencia de esta enfermedad en las actividades de la vida diaria y en la calidad de vida relacionada con la salud de los sujetos que la padecen.<br/><br/>Material y métodos<br/>Estudio longitudinal prospectivo realizado con 4 sujetos afectados de ataxia de Friedreich.<br/><br/>Resultados<br/>Disminución en la puntuación global de los 4 sujetos durante la duración del estudio en la medida de la independencia funcional y en el cuestionario de salud SF-36.<br/><br/>Conclusiones<br/>El fenotipo clínico de la ataxia de Friedreich está caracterizado por una amplia heterogeneidad; entendiendo la patogénesis de esta enfermedad y su implicación multisistémica, se puede evaluar el impacto sobre la calidad de vida de estos enfermos. |
| 520 8# - SUMMARY, ETC. | |
| Summary, etc. | Objective<br/>The objective of this study has been to evaluate diversity of the clinical phenotype of Friedreich's Ataxia and the interference that disease has in the Activities of Daily Life and in the Health Related Quality of Life of the subjects who suffer it.<br/><br/>Material and methods<br/>A prospective, longitudinal study conducted with four subjects affected by Friedreich's Ataxia.<br/><br/>Results<br/>Decrease in the global score of the 4 subjects during the study in the Functional Independence Measure and in the Questionnaire of Health SF-36.<br/><br/>Conclusions<br/>The clinical phenotype of Friedreich's Ataxia is characterized by wide heterogeneity. When the pathogenesis of this disease and its multisystem involvement is understood, it becomes possible to evaluate its impact on the quality of life of these patients. |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | ataxia de Friedreich |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | variabilidad fenotípica |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | calidad de vida |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | friedreich's ataxia |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | phenotypic variability |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | quality of life |
| 773 ## - HOST ITEM ENTRY | |
| Related parts | -- 2010 (jul/ago), v. 32, n. 4, p. 190-194 |
| Title | Fisioterapia. Revista de salud, discapacidad y terapéutica física. |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Source of classification or shelving scheme | Universal Decimal Classification |
| Koha item type | Artículo de revista |
| Withdrawn status | Lost status | Source of classification or shelving scheme | Damaged status | Not for loan | Collection code | Home library | Current library | Date acquired | Total Checkouts | Full call number | Barcode | Date last seen | Price effective from | Koha item type | Public note |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Universal Decimal Classification | Non-fiction | Revistas y artículos | Revistas y artículos | 18/06/2019 | PP11 | v32(4):190-194 | 18/06/2019 | 18/06/2019 | Artículo de revista | Cajonera |