A Fatal Case of Generalized Lysosomal Storage Disease in an Infant.
Gangliosidoses are a heterogeneous group of lysosomal storage diseases with an autosomal recessive trait, which are characterized by the intracellular accumulation of gangliosides in several tissues, mainly in neurons. This condition causes a progressive neurodegenerative disorder with varied clini...
| Autores principales: | , , , , , , , |
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| Formato: | Artículo |
| Lenguaje: | inglés |
| Publicado: |
Masson Doyma México, S.A
2010
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| Acceso en línea: | http://eprints.uanl.mx/8262/1/A%20Fatal%20Case%20of%20Generalized%20Lysosomal%20Storage%20Disease.pdf |
| _version_ | 1824370670348271616 |
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| author | Ponce Camacho, Marco Antonio Melo de la Garza, Américo Barboza Quintana, Álvaro Barboza Quintana, Oralia Ancer Rodríguez, Jesús Ramírez Bon, Enrique Garza Alatorre, Arturo Gerardo Rodríguez Gutiérrez, Nora Alicia |
| author_facet | Ponce Camacho, Marco Antonio Melo de la Garza, Américo Barboza Quintana, Álvaro Barboza Quintana, Oralia Ancer Rodríguez, Jesús Ramírez Bon, Enrique Garza Alatorre, Arturo Gerardo Rodríguez Gutiérrez, Nora Alicia |
| author_sort | Ponce Camacho, Marco Antonio |
| collection | Repositorio Institucional |
| description | Gangliosidoses are a heterogeneous group of lysosomal storage diseases with an autosomal recessive trait, which are characterized by the intracellular accumulation of
gangliosides in several tissues, mainly in neurons. This condition causes a progressive neurodegenerative disorder with varied clinical presentations. Depending on the severity of the enzymatic defect, gangliosidoses show different rates of clinical progression and organ involvement; poor residual enzyme activity is seen in more aggressive forms (infantile and juvenile subtypes) leading to early death whereas cases with better residual enzyme activity have a late onset in adult life and a milder clinical course.
Autopsy findings of a 7 month-old girl with histological and ultrastructural changes consistent with gangliosidosis are presented. |
| format | Article |
| id | eprints-8262 |
| institution | UANL |
| language | English |
| publishDate | 2010 |
| publisher | Masson Doyma México, S.A |
| record_format | eprints |
| spelling | eprints-82622020-02-04T21:11:34Z http://eprints.uanl.mx/8262/ A Fatal Case of Generalized Lysosomal Storage Disease in an Infant. Ponce Camacho, Marco Antonio Melo de la Garza, Américo Barboza Quintana, Álvaro Barboza Quintana, Oralia Ancer Rodríguez, Jesús Ramírez Bon, Enrique Garza Alatorre, Arturo Gerardo Rodríguez Gutiérrez, Nora Alicia Gangliosidoses are a heterogeneous group of lysosomal storage diseases with an autosomal recessive trait, which are characterized by the intracellular accumulation of gangliosides in several tissues, mainly in neurons. This condition causes a progressive neurodegenerative disorder with varied clinical presentations. Depending on the severity of the enzymatic defect, gangliosidoses show different rates of clinical progression and organ involvement; poor residual enzyme activity is seen in more aggressive forms (infantile and juvenile subtypes) leading to early death whereas cases with better residual enzyme activity have a late onset in adult life and a milder clinical course. Autopsy findings of a 7 month-old girl with histological and ultrastructural changes consistent with gangliosidosis are presented. Masson Doyma México, S.A 2010 Article PeerReviewed text en cc_by_nc_nd http://eprints.uanl.mx/8262/1/A%20Fatal%20Case%20of%20Generalized%20Lysosomal%20Storage%20Disease.pdf http://eprints.uanl.mx/8262/1.haspreviewThumbnailVersion/A%20Fatal%20Case%20of%20Generalized%20Lysosomal%20Storage%20Disease.pdf Ponce Camacho, Marco Antonio y Melo de la Garza, Américo y Barboza Quintana, Álvaro y Barboza Quintana, Oralia y Ancer Rodríguez, Jesús y Ramírez Bon, Enrique y Garza Alatorre, Arturo Gerardo y Rodríguez Gutiérrez, Nora Alicia (2010) A Fatal Case of Generalized Lysosomal Storage Disease in an Infant. Medicina Universitaria, 12 (46). pp. 59-63. ISSN 1665-5796 (Entregado) |
| spellingShingle | Ponce Camacho, Marco Antonio Melo de la Garza, Américo Barboza Quintana, Álvaro Barboza Quintana, Oralia Ancer Rodríguez, Jesús Ramírez Bon, Enrique Garza Alatorre, Arturo Gerardo Rodríguez Gutiérrez, Nora Alicia A Fatal Case of Generalized Lysosomal Storage Disease in an Infant. |
| thumbnail | https://rediab.uanl.mx/themes/sandal5/images/online.png |
| title | A Fatal Case of Generalized Lysosomal Storage Disease
in an Infant. |
| title_full | A Fatal Case of Generalized Lysosomal Storage Disease
in an Infant. |
| title_fullStr | A Fatal Case of Generalized Lysosomal Storage Disease
in an Infant. |
| title_full_unstemmed | A Fatal Case of Generalized Lysosomal Storage Disease
in an Infant. |
| title_short | A Fatal Case of Generalized Lysosomal Storage Disease
in an Infant. |
| title_sort | fatal case of generalized lysosomal storage disease in an infant |
| url | http://eprints.uanl.mx/8262/1/A%20Fatal%20Case%20of%20Generalized%20Lysosomal%20Storage%20Disease.pdf |
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