Clinical variability of hypophosphatasia in colombian patients : case reports
Q4
- Autores:
-
Zarante Bahamon, Ana Maria
Prieto Rivera, Juan Carlos
Rojas, Jorge
Gonzáles López, Vladimir
Vargas, Victor
Rosero Arevalo, Melissa
- Tipo de recurso:
- Informe
- Fecha de publicación:
- 2021
- Institución:
- Pontificia Universidad Javeriana
- Repositorio:
- Repositorio Universidad Javeriana
- Idioma:
- eng
- OAI Identifier:
- oai:repository.javeriana.edu.co:10554/63817
- Acceso en línea:
- https://www.jofem.org/index.php/jofem/article/view/711
http://hdl.handle.net/10554/63817
https://doi.org/10.14740/jem711
- Palabra clave:
- Short stature
Skeletal deformities
Alkaline phosphatase
Mutation
Hypomineralization
- Rights
- License
- Atribución-NoComercial 4.0 Internacional
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| dc.title.spa.fl_str_mv |
Clinical variability of hypophosphatasia in colombian patients : case reports |
| title |
Clinical variability of hypophosphatasia in colombian patients : case reports |
| spellingShingle |
Clinical variability of hypophosphatasia in colombian patients : case reports Short stature Skeletal deformities Alkaline phosphatase Mutation Hypomineralization |
| title_short |
Clinical variability of hypophosphatasia in colombian patients : case reports |
| title_full |
Clinical variability of hypophosphatasia in colombian patients : case reports |
| title_fullStr |
Clinical variability of hypophosphatasia in colombian patients : case reports |
| title_full_unstemmed |
Clinical variability of hypophosphatasia in colombian patients : case reports |
| title_sort |
Clinical variability of hypophosphatasia in colombian patients : case reports |
| dc.creator.fl_str_mv |
Zarante Bahamon, Ana Maria Prieto Rivera, Juan Carlos Rojas, Jorge Gonzáles López, Vladimir Vargas, Victor Rosero Arevalo, Melissa |
| dc.contributor.author.none.fl_str_mv |
Zarante Bahamon, Ana Maria Prieto Rivera, Juan Carlos Rojas, Jorge Gonzáles López, Vladimir Vargas, Victor Rosero Arevalo, Melissa |
| dc.contributor.corporatename.spa.fl_str_mv |
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana |
| dc.contributor.javerianateacher.none.fl_str_mv |
Prieto Rivera, Juan Carlos |
| dc.subject.keyword.spa.fl_str_mv |
Short stature Skeletal deformities Alkaline phosphatase Mutation Hypomineralization |
| topic |
Short stature Skeletal deformities Alkaline phosphatase Mutation Hypomineralization |
| description |
Q4 |
| publishDate |
2021 |
| dc.date.created.none.fl_str_mv |
2021-04-25 |
| dc.date.accessioned.none.fl_str_mv |
2023-03-16T19:28:35Z |
| dc.date.available.none.fl_str_mv |
2023-03-16T19:28:35Z |
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Artículo de revista |
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http://purl.org/coar/resource_type/c_93fc |
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http://purl.org/coar/resource_type/c_93fc |
| dc.identifier.spa.fl_str_mv |
https://www.jofem.org/index.php/jofem/article/view/711 |
| dc.identifier.issn.spa.fl_str_mv |
1923-2861 / 1923-287X (Electrónico) |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10554/63817 |
| dc.identifier.doi.spa.fl_str_mv |
https://doi.org/10.14740/jem711 |
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instname:Pontificia Universidad Javeriana |
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reponame:Repositorio Institucional - Pontificia Universidad Javeriana |
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repourl:https://repository.javeriana.edu.co |
| url |
https://www.jofem.org/index.php/jofem/article/view/711 http://hdl.handle.net/10554/63817 https://doi.org/10.14740/jem711 |
| identifier_str_mv |
1923-2861 / 1923-287X (Electrónico) instname:Pontificia Universidad Javeriana reponame:Repositorio Institucional - Pontificia Universidad Javeriana repourl:https://repository.javeriana.edu.co |
| dc.language.iso.spa.fl_str_mv |
eng |
| language |
eng |
| dc.relation.citationstartpage.spa.fl_str_mv |
56 |
| dc.relation.citationendpage.spa.fl_str_mv |
64 |
| dc.relation.ispartofjournal.spa.fl_str_mv |
Journal of Endocrinology and Metabolism |
| dc.relation.citationvolume.spa.fl_str_mv |
11 |
| dc.relation.citationissue.spa.fl_str_mv |
2 |
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Atribución-NoComercial 4.0 Internacional |
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http://creativecommons.org/licenses/by-nc/4.0/ |
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http://purl.org/coar/access_right/c_abf2 |
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Atribución-NoComercial 4.0 Internacional http://creativecommons.org/licenses/by-nc/4.0/ http://purl.org/coar/access_right/c_abf2 |
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PDF |
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application/pdf |
| dc.coverage.spatial.spa.fl_str_mv |
Colombia |
| institution |
Pontificia Universidad Javeriana |
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Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Zarante Bahamon, Ana MariaPrieto Rivera, Juan CarlosRojas, JorgeGonzáles López, VladimirVargas, VictorRosero Arevalo, MelissaPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética HumanaPrieto Rivera, Juan CarlosColombia2023-03-16T19:28:35Z2023-03-16T19:28:35Z2021-04-25https://www.jofem.org/index.php/jofem/article/view/7111923-2861 / 1923-287X (Electrónico)http://hdl.handle.net/10554/63817https://doi.org/10.14740/jem711instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coPDFapplication/pdfengClinical variability of hypophosphatasia in colombian patients : case reportsArtículo de revistahttp://purl.org/coar/resource_type/c_93fcQ4Q4Pacientes con HipofosfatasiaHypophosphatasia (HPP) is a rare inherited disorder characterized by low serum alkaline phosphatase. It affects bone and tooth mineralization, although extra-skeletal manifestations are frequent. HPP is caused by loss-of-function mutations in the ALPL gene, encoding the protein tissue-nonspecific alkaline phosphatase. The phenotype is broadly variable, from a subtype with exclusive odontological compromise (odontohypophosphatasia) to five subtypes with systemic involvement, classified according to the age of onset at first symptoms. We present seven cases of HPP, in order to perform the clinical, biochemistry and radiological description of these Colombian patients, as well as to show the clinical variability of the disease in patients who present the same mutation or genetic defect.https://orcid.org/0000-0001-8706-0775Revista Internacional - IndexadaCNoShort statureSkeletal deformitiesAlkaline phosphataseMutationHypomineralization5664Journal of Endocrinology and Metabolism112ORIGINALClinical Variability of Hypophosphatasia in Colombian Patients Case Reports.pdfClinical Variability of Hypophosphatasia in Colombian Patients Case Reports.pdfArtículoapplication/pdf2660344http://repository.javeriana.edu.co/bitstream/10554/63817/1/Clinical%20Variability%20of%20Hypophosphatasia%20in%20Colombian%20Patients%20Case%20Reports.pdff255b28c25bfa839e63ae4ecfa3f0144MD51open accessLICENSElicense.txtlicense.txttext/plain; charset=utf-82603http://repository.javeriana.edu.co/bitstream/10554/63817/2/license.txt2070d280cc89439d983d9eee1b17df53MD52open accessTHUMBNAILClinical Variability of Hypophosphatasia in Colombian Patients Case Reports.pdf.jpgClinical Variability of Hypophosphatasia in Colombian Patients Case Reports.pdf.jpgIM Thumbnailimage/jpeg14463http://repository.javeriana.edu.co/bitstream/10554/63817/3/Clinical%20Variability%20of%20Hypophosphatasia%20in%20Colombian%20Patients%20Case%20Reports.pdf.jpg1b236d2c6f3129512cc68b094e4b5cc4MD53open access10554/63817oai:repository.javeriana.edu.co:10554/638172023-03-17 03:03:15.686Repositorio Institucional - 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