Trastornos hereditarios del metabolismo de las pirimidinas y las purinas asociados a discapacidad intelectual.
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| Title: | Trastornos hereditarios del metabolismo de las pirimidinas y las purinas asociados a discapacidad intelectual. |
|---|---|
| Alternate Title: | Hereditary disorders of pyrimidines and purine metabolism associated with intellectual disability. |
| Authors: | Osorio, José Henry1,2 jose.osorio_o@ucaldas.edu.co, Osorio, Dulcinea3 dulcineamd@gmail.com, Castro, Juan Carlos3 juan.castro@ucaldas.edu.co |
| Source: | Biosalud. ene-ju2019, Vol. 18 Issue 1, p97-107. 11p. |
| Abstract (English): | Objective: To update the reader on inherited disorders of pyrimidine and purine metabolism related to intellectual disability. Materials and methods: literature available from the past 60 years from BBCs-LILACS, PubMed, IB-PsycINFO, IB-FSS, IB-SciELO, Scopus, and Science Direct databases was analyzed, and 51 references were selected based on the quality of the evidence presented. Results: Relevant information related to the objectives proposed in this review was obtained, and therefore, it can be classified into two sections specifically: alterations in the metabolism of pyrimidines associated with mental retardation, alterations in the metabolism of purines related to mental retardation. Conclusion: Hereditary disorders of purines and pyrimidine metabolism are a growing group of diseases. Health personnel must become familiar to face the need for a specific clinical and laboratory approach. It is necessary to look for the possible relationship of this type of disease in patients with mental retardation, looking to offer genetic counseling that benefits the families of patients who suffer. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): | Objetivo: Actualizar al lector en los trastornos hereditarios del metabolismo de pirimidinas y las purinas relacionadas con discapacidad intelectual. Materiales y métodos: Se analizó la literatura disponible de los últimos 60 años en las bases de datos BBCS-LILACS, PubMed, IB-PsycINFO, IB-SSCI, IB-SciELO, Scopus y Science Direct. Se seleccionaron 51 referencias, con base en la calidad de la evidencia presentada por las mismas. Resultados: Se obtuvo información pertinente relacionada con los objetivos propuestos en la presente revisión, por lo cual puede clasificarse en dos secciones a saber: alteraciones del metabolismo de las pirimidinas asociadas a retardo mental, alteraciones del metabolismo de las purinas asociadas a retardo mental. Conclusión: Los trastornos hereditarios del metabolismo de las purinas y pirimidinas son un grupo creciente de enfermedades, con las cuales el personal de la salud debe familiarizarse ante la necesidad de un abordaje clínico y de laboratorio específicos. Se hace necesario buscar la posible relación con este tipo de enfermedades en los pacientes que presenten retardo mental, con miras a ofrecer asesoría genética que beneficie a las familias de los pacientes que las sufren. [ABSTRACT FROM AUTHOR] |
| Copyright of Biosalud is the property of Universidad de Caldas and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | MedicLatina |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: lth DbLabel: MedicLatina An: 161520776 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Trastornos hereditarios del metabolismo de las pirimidinas y las purinas asociados a discapacidad intelectual. – Name: TitleAlt Label: Alternate Title Group: TiAlt Data: Hereditary disorders of pyrimidines and purine metabolism associated with intellectual disability. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Osorio%2C+José+Henry%22">Osorio, José Henry</searchLink><relatesTo>1,2</relatesTo><i> jose.osorio_o@ucaldas.edu.co</i><br /><searchLink fieldCode="AR" term="%22Osorio%2C+Dulcinea%22">Osorio, Dulcinea</searchLink><relatesTo>3</relatesTo><i> dulcineamd@gmail.com</i><br /><searchLink fieldCode="AR" term="%22Castro%2C+Juan+Carlos%22">Castro, Juan Carlos</searchLink><relatesTo>3</relatesTo><i> juan.castro@ucaldas.edu.co</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Biosalud%22">Biosalud</searchLink>. ene-ju2019, Vol. 18 Issue 1, p97-107. 11p. – Name: Abstract Label: Abstract (English) Group: Ab Data: Objective: To update the reader on inherited disorders of pyrimidine and purine metabolism related to intellectual disability. Materials and methods: literature available from the past 60 years from BBCs-LILACS, PubMed, IB-PsycINFO, IB-FSS, IB-SciELO, Scopus, and Science Direct databases was analyzed, and 51 references were selected based on the quality of the evidence presented. Results: Relevant information related to the objectives proposed in this review was obtained, and therefore, it can be classified into two sections specifically: alterations in the metabolism of pyrimidines associated with mental retardation, alterations in the metabolism of purines related to mental retardation. Conclusion: Hereditary disorders of purines and pyrimidine metabolism are a growing group of diseases. Health personnel must become familiar to face the need for a specific clinical and laboratory approach. It is necessary to look for the possible relationship of this type of disease in patients with mental retardation, looking to offer genetic counseling that benefits the families of patients who suffer. [ABSTRACT FROM AUTHOR] – Name: Abstract Label: Abstract (Spanish) Group: Ab Data: Objetivo: Actualizar al lector en los trastornos hereditarios del metabolismo de pirimidinas y las purinas relacionadas con discapacidad intelectual. Materiales y métodos: Se analizó la literatura disponible de los últimos 60 años en las bases de datos BBCS-LILACS, PubMed, IB-PsycINFO, IB-SSCI, IB-SciELO, Scopus y Science Direct. Se seleccionaron 51 referencias, con base en la calidad de la evidencia presentada por las mismas. Resultados: Se obtuvo información pertinente relacionada con los objetivos propuestos en la presente revisión, por lo cual puede clasificarse en dos secciones a saber: alteraciones del metabolismo de las pirimidinas asociadas a retardo mental, alteraciones del metabolismo de las purinas asociadas a retardo mental. Conclusión: Los trastornos hereditarios del metabolismo de las purinas y pirimidinas son un grupo creciente de enfermedades, con las cuales el personal de la salud debe familiarizarse ante la necesidad de un abordaje clínico y de laboratorio específicos. Se hace necesario buscar la posible relación con este tipo de enfermedades en los pacientes que presenten retardo mental, con miras a ofrecer asesoría genética que beneficie a las familias de los pacientes que las sufren. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Biosalud is the property of Universidad de Caldas and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.17151/biosa.2019.18.1.8 Languages: – Code: spa Text: Spanish PhysicalDescription: Pagination: PageCount: 11 StartPage: 97 Titles: – TitleFull: Trastornos hereditarios del metabolismo de las pirimidinas y las purinas asociados a discapacidad intelectual. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Osorio, José Henry – PersonEntity: Name: NameFull: Osorio, Dulcinea – PersonEntity: Name: NameFull: Castro, Juan Carlos IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: ene-ju2019 Type: published Y: 2019 Identifiers: – Type: issn-print Value: 16579550 Numbering: – Type: volume Value: 18 – Type: issue Value: 1 Titles: – TitleFull: Biosalud Type: main |
| ResultId | 1 |
