Metachromatic leukodystrophy: Diagnosis and treatment challenges
Digital
- Autores:
-
Sanchez-Alvarez, Nayibe Tatiana
Bautista-Niño, Paula Katherine
Trejos Suárez, Juanita
Serrano-Diaz, Norma Cecilia
- Tipo de recurso:
- Review article
- Fecha de publicación:
- 2021
- Institución:
- Universidad de Santander
- Repositorio:
- Repositorio Universidad de Santander
- Idioma:
- eng
- OAI Identifier:
- oai:repositorio.udes.edu.co:001/6227
- Acceso en línea:
- http://dx.doi.org/10.21931/RB/2021.06.03.32
https://repositorio.udes.edu.co/handle/001/6227
- Palabra clave:
- Metachromatic leukodystrophy
Treatment
Diagnosis
Prevalence
- Rights
- openAccess
- License
- Derechos Reservados - Los Autores
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Sanchez-Alvarez, Nayibe Tatiana01481860-9243-4703-9c5f-7d061db7451f-1Bautista-Niño, Paula Katherine814084ae-a040-4150-9412-cf36cef65faf-1Trejos Suárez, Juanitad1ff80c8-4661-4ad3-8cc1-ac4b0fe1abe3-1Serrano-Diaz, Norma Cecilia97adcf7f-62f4-41cd-9af8-5ab50de94baa-1CliniUDES2022-03-02T21:10:23Z2022-03-02T21:10:23Z2021-06-03DigitalMetachromatic leukodystrophy is a neurological disease of the lysosomal deposit that has a significant impact given the implications for the neurodegenerative deterioration of the patient. Currently, there is no treatment available that reverses the development of characteristic neurological and systemic symptoms. Objective. Carry out an updated bibliographic search on the most critical advances in the treatment and diagnosis for LDM. A retrospective topic review published in English and Spanish in the Orphanet and Pubmed databases. Current treatment options, such as enzyme replacement therapy and hematopoietic stem cell transplantation aimed at decreasing the rapid progression of the disease, improving patient survival; however, these are costly. The pathophysiological events of intracellular signaling related to the deficiency of the enzyme Arylsulfatase A and subsequent accumulation of sulphatides and glycosylated ceramides have not yet been established. Recently, the accumulation of C16 sulphatides has been shown to inhibit glycolysis and insulin secretion in pancreatic cells. The significant advance in technology has allowed timely diagnosis in patients suffering from LDM; however, they still do not have an effective treatment.Ciencias Médicas y de la Salud8 papplication/pdfhttp://dx.doi.org/10.21931/RB/2021.06.03.32https://repositorio.udes.edu.co/handle/001/6227engEcuador2090320836ScopusRevista BionaturaDerechos Reservados - Los Autoresinfo:eu-repo/semantics/openAccessAtribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)https://creativecommons.org/licenses/by-nc-nd/4.0/http://purl.org/coar/access_right/c_abf2https://www.revistabionatura.com/2021.06.03.32.htmlMetachromatic leukodystrophyTreatmentDiagnosisPrevalenceMetachromatic leukodystrophy: Diagnosis and treatment challengesArtículo de revistahttp://purl.org/coar/resource_type/c_dcae04bchttp://purl.org/coar/resource_type/c_2df8fbb1Textinfo:eu-repo/semantics/articlehttp://purl.org/redcol/resource_type/ARTREVinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/version/c_970fb48d4fbd8a85Todas las AudienciasPublicationORIGINALMetachromatic leukodystrophy. Diagnosis and treatment challenges.pdfMetachromatic leukodystrophy. Diagnosis and treatment challenges.pdfapplication/pdf222394https://repositorio.udes.edu.co/bitstreams/cd76bd3a-8cc0-4c0d-8f44-1a414c6f54fd/downloade6928c4bd9e0c2e0c68310b674d68d1bMD51LICENSElicense.txtlicense.txttext/plain; charset=utf-859https://repositorio.udes.edu.co/bitstreams/3d831895-b8d1-4a0f-b6cc-16cc6895f1f1/download38d94cf55aa1bf2dac1a736ac45c881cMD52TEXTMetachromatic leukodystrophy. Diagnosis and treatment challenges.pdf.txtMetachromatic leukodystrophy. Diagnosis and treatment challenges.pdf.txtExtracted texttext/plain5https://repositorio.udes.edu.co/bitstreams/be600a8c-19d8-42d9-9da6-d6260f4d1780/download5dbe86c1111d64f45ba435df98fdc825MD53THUMBNAILMetachromatic leukodystrophy. Diagnosis and treatment challenges.pdf.jpgMetachromatic leukodystrophy. Diagnosis and treatment challenges.pdf.jpgGenerated Thumbnailimage/jpeg10221https://repositorio.udes.edu.co/bitstreams/9d0d18c7-bd87-4e45-afd4-b135f60971e7/downloadd9946fc313ee7b37d26f8e7d1efef7b0MD54001/6227oai:repositorio.udes.edu.co:001/62272023-10-10 09:41:34.693https://creativecommons.org/licenses/by-nc-nd/4.0/Derechos Reservados - Los Autoreshttps://repositorio.udes.edu.coRepositorio Universidad de Santandersoporte@metabiblioteca.comTGljZW5jaWEgZGUgUHVibGljYWNpw7NuIFVERVMKRGlyZWN0cmljZXMgZGUgVVNPIHkgQUNDRVNPCgo= |
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Metachromatic leukodystrophy: Diagnosis and treatment challenges |
| title |
Metachromatic leukodystrophy: Diagnosis and treatment challenges |
| spellingShingle |
Metachromatic leukodystrophy: Diagnosis and treatment challenges Metachromatic leukodystrophy Treatment Diagnosis Prevalence |
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Metachromatic leukodystrophy: Diagnosis and treatment challenges |
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Metachromatic leukodystrophy: Diagnosis and treatment challenges |
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Metachromatic leukodystrophy: Diagnosis and treatment challenges |
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Metachromatic leukodystrophy: Diagnosis and treatment challenges |
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Metachromatic leukodystrophy: Diagnosis and treatment challenges |
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Sanchez-Alvarez, Nayibe Tatiana Bautista-Niño, Paula Katherine Trejos Suárez, Juanita Serrano-Diaz, Norma Cecilia |
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Sanchez-Alvarez, Nayibe Tatiana Bautista-Niño, Paula Katherine Trejos Suárez, Juanita Serrano-Diaz, Norma Cecilia |
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CliniUDES |
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Metachromatic leukodystrophy Treatment Diagnosis Prevalence |
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Metachromatic leukodystrophy Treatment Diagnosis Prevalence |
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Digital |
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