Mucopolysaccharidosis type iv: report of 5 cases of morquio syndrome
Mucopolysaccharidosis type IV or Morquio Syndrome, is a lysosomal deposit disease, of autosomal recessive inheritance with a similar incidence in men and women. The clinical picture is of variable expressiveness, its phenotype is characterized by skeletal dysplasia that includes neck and short trunk...
- Autores:
-
Cadena Arteaga, Jorge Alejandro
Lasso Andrade, Fabricio Andres
Achicanoy Puchana, Denny Marcela
Achicanoy Puchana, Diana Fernanda
Caicedo Morillo, Gina Natalia
Medina-Bravo, Paola Andrea
Juez Neira, William Fernando
Vanegas Bastidas, Cristian Ricardo
Montoya Ríos, Diana Carolina
Vasquez Correa, Karen Julieth
Suárez Cuéllar, Laura Catalina
Osorio Segura, Lady Johana
- Tipo de recurso:
- https://purl.org/coar/resource_type/c_6501
- Fecha de publicación:
- 2022
- Institución:
- Universidad El Bosque
- Repositorio:
- Repositorio U. El Bosque
- Idioma:
- eng
- OAI Identifier:
- oai:repositorio.unbosque.edu.co:20.500.12495/6777
- Acceso en línea:
- https://hdl.handle.net/20.500.12495/6777
https://doi.org/10.1016/j.radcr.2021.11.012
- Palabra clave:
- Síndrome de morquio
Mucopolisacaridosis
Baja estatura
Glicosaminoglicanos
Morquio syndrome
Mucopolysaccharidosis
Short stature
Glycosaminoglycans
- Rights
- License
- Attribution-NonCommercial-NoDerivatives 4.0 Internacional
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| dc.title.spa.fl_str_mv |
Mucopolysaccharidosis type iv: report of 5 cases of morquio syndrome |
| dc.title.translated.spa.fl_str_mv |
Mucopolysaccharidosis type iv: report of 5 cases of morquio syndrome |
| title |
Mucopolysaccharidosis type iv: report of 5 cases of morquio syndrome |
| spellingShingle |
Mucopolysaccharidosis type iv: report of 5 cases of morquio syndrome Síndrome de morquio Mucopolisacaridosis Baja estatura Glicosaminoglicanos Morquio syndrome Mucopolysaccharidosis Short stature Glycosaminoglycans |
| title_short |
Mucopolysaccharidosis type iv: report of 5 cases of morquio syndrome |
| title_full |
Mucopolysaccharidosis type iv: report of 5 cases of morquio syndrome |
| title_fullStr |
Mucopolysaccharidosis type iv: report of 5 cases of morquio syndrome |
| title_full_unstemmed |
Mucopolysaccharidosis type iv: report of 5 cases of morquio syndrome |
| title_sort |
Mucopolysaccharidosis type iv: report of 5 cases of morquio syndrome |
| dc.creator.fl_str_mv |
Cadena Arteaga, Jorge Alejandro Lasso Andrade, Fabricio Andres Achicanoy Puchana, Denny Marcela Achicanoy Puchana, Diana Fernanda Caicedo Morillo, Gina Natalia Medina-Bravo, Paola Andrea Juez Neira, William Fernando Vanegas Bastidas, Cristian Ricardo Montoya Ríos, Diana Carolina Vasquez Correa, Karen Julieth Suárez Cuéllar, Laura Catalina Osorio Segura, Lady Johana |
| dc.contributor.author.none.fl_str_mv |
Cadena Arteaga, Jorge Alejandro Lasso Andrade, Fabricio Andres Achicanoy Puchana, Denny Marcela Achicanoy Puchana, Diana Fernanda Caicedo Morillo, Gina Natalia Medina-Bravo, Paola Andrea Juez Neira, William Fernando Vanegas Bastidas, Cristian Ricardo Montoya Ríos, Diana Carolina Vasquez Correa, Karen Julieth Suárez Cuéllar, Laura Catalina Osorio Segura, Lady Johana |
| dc.subject.spa.fl_str_mv |
Síndrome de morquio Mucopolisacaridosis Baja estatura Glicosaminoglicanos |
| topic |
Síndrome de morquio Mucopolisacaridosis Baja estatura Glicosaminoglicanos Morquio syndrome Mucopolysaccharidosis Short stature Glycosaminoglycans |
| dc.subject.keywords.spa.fl_str_mv |
Morquio syndrome Mucopolysaccharidosis Short stature Glycosaminoglycans |
| description |
Mucopolysaccharidosis type IV or Morquio Syndrome, is a lysosomal deposit disease, of autosomal recessive inheritance with a similar incidence in men and women. The clinical picture is of variable expressiveness, its phenotype is characterized by skeletal dysplasia that includes neck and short trunk, short stature, keel thorax, kyphosis, scoliosis, genus valgus, flat foot, coxa valga, gait disorders, instability of the cervical spine and wedge or ovoid vertebrae. The treatment is symptomatic, with enzyme replacement. We present a series of 5 cases, the product of 2 couples, with a confirmed diagnosis of Mucopolysaccharidosis type IV, and different clinical presentation. |
| publishDate |
2022 |
| dc.date.accessioned.none.fl_str_mv |
2022-02-09T20:09:00Z |
| dc.date.available.none.fl_str_mv |
2022-02-09T20:09:00Z |
| dc.date.issued.none.fl_str_mv |
2022-02 |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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Artículo de revista |
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https://purl.org/coar/resource_type/c_6501 |
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info:eu-repo/semantics/article |
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https://purl.org/coar/version/c_970fb48d4fbd8a85 |
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https://purl.org/coar/resource_type/c_6501 |
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1930-0433 |
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https://hdl.handle.net/20.500.12495/6777 |
| dc.identifier.doi.none.fl_str_mv |
https://doi.org/10.1016/j.radcr.2021.11.012 |
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instname:Universidad El Bosque |
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reponame:Repositorio Institucional Universidad El Bosque |
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repourl:https://repositorio.unbosque.edu.co |
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1930-0433 instname:Universidad El Bosque reponame:Repositorio Institucional Universidad El Bosque repourl:https://repositorio.unbosque.edu.co |
| url |
https://hdl.handle.net/20.500.12495/6777 https://doi.org/10.1016/j.radcr.2021.11.012 |
| dc.language.iso.none.fl_str_mv |
eng |
| language |
eng |
| dc.relation.ispartofseries.spa.fl_str_mv |
Radiology Case Reports, 1930-0433, Vol 17, Num 2, 2022, pag 385-391 |
| dc.relation.uri.none.fl_str_mv |
https://linkinghub.elsevier.com/retrieve/pii/S1930-0433(21)00792-5 |
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Attribution-NonCommercial-NoDerivatives 4.0 Internacional |
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http://purl.org/coar/access_right/c_abf2 |
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https://creativecommons.org/licenses/by-nc-nd/4.0/ |
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Acceso abierto |
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https://purl.org/coar/access_right/c_abf2 Acceso abierto |
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Attribution-NonCommercial-NoDerivatives 4.0 Internacional https://creativecommons.org/licenses/by-nc-nd/4.0/ Acceso abierto https://purl.org/coar/access_right/c_abf2 http://purl.org/coar/access_right/c_abf2 |
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application/pdf |
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Elsevier Inc. |
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Radiology Case Reports |
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Cadena Arteaga, Jorge AlejandroLasso Andrade, Fabricio AndresAchicanoy Puchana, Denny MarcelaAchicanoy Puchana, Diana FernandaCaicedo Morillo, Gina NataliaMedina-Bravo, Paola AndreaJuez Neira, William FernandoVanegas Bastidas, Cristian RicardoMontoya Ríos, Diana CarolinaVasquez Correa, Karen JuliethSuárez Cuéllar, Laura CatalinaOsorio Segura, Lady Johana2022-02-09T20:09:00Z2022-02-09T20:09:00Z2022-021930-0433https://hdl.handle.net/20.500.12495/6777https://doi.org/10.1016/j.radcr.2021.11.012instname:Universidad El Bosquereponame:Repositorio Institucional Universidad El Bosquerepourl:https://repositorio.unbosque.edu.coMucopolysaccharidosis type IV or Morquio Syndrome, is a lysosomal deposit disease, of autosomal recessive inheritance with a similar incidence in men and women. The clinical picture is of variable expressiveness, its phenotype is characterized by skeletal dysplasia that includes neck and short trunk, short stature, keel thorax, kyphosis, scoliosis, genus valgus, flat foot, coxa valga, gait disorders, instability of the cervical spine and wedge or ovoid vertebrae. The treatment is symptomatic, with enzyme replacement. We present a series of 5 cases, the product of 2 couples, with a confirmed diagnosis of Mucopolysaccharidosis type IV, and different clinical presentation.Mucopolysaccharidosis type IV or Morquio Syndrome, is a lysosomal deposit disease, of autosomal recessive inheritance with a similar incidence in men and women. The clinical picture is of variable expressiveness, its phenotype is characterized by skeletal dysplasia that includes neck and short trunk, short stature, keel thorax, kyphosis, scoliosis, genus valgus, flat foot, coxa valga, gait disorders, instability of the cervical spine and wedge or ovoid vertebrae. The treatment is symptomatic, with enzyme replacement. We present a series of 5 cases, the product of 2 couples, with a confirmed diagnosis of Mucopolysaccharidosis type IV, and different clinical presentation.application/pdfengElsevier Inc.Radiology Case ReportsRadiology Case Reports, 1930-0433, Vol 17, Num 2, 2022, pag 385-391https://linkinghub.elsevier.com/retrieve/pii/S1930-0433(21)00792-5Attribution-NonCommercial-NoDerivatives 4.0 Internacionalhttps://creativecommons.org/licenses/by-nc-nd/4.0/Acceso abiertohttps://purl.org/coar/access_right/c_abf2Acceso abiertohttp://purl.org/coar/access_right/c_abf2Síndrome de morquioMucopolisacaridosisBaja estaturaGlicosaminoglicanosMorquio syndromeMucopolysaccharidosisShort statureGlycosaminoglycansMucopolysaccharidosis type iv: report of 5 cases of morquio syndromeMucopolysaccharidosis type iv: report of 5 cases of morquio syndromeArtículo de revistahttps://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articlehttps://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/version/c_970fb48d4fbd8a85ORIGINALMucopolysaccharidosis type IV report of 5 cases of Morquio Syndrome.pdfMucopolysaccharidosis type IV report of 5 cases of Morquio Syndrome.pdfMucopolysaccharidosis type iv: report of 5 cases of morquio syndromeapplication/pdf1883254https://pruebas-update-repositorio-unbosque.cloudbiteca.com/bitstreams/d0cbfa50-9434-4ff2-901e-86f5be3d5322/downloadee2b65d281a4501da3a8054e021edcc2MD51trueAnonymousREADCC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; 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