Registro completo de metadatos
| Campo DC | Valor | Lengua/Idioma |
|---|---|---|
| dc.provenance | CONICET | - |
| dc.creator | Abaroa, Luz | - |
| dc.creator | Garretto, Nelida S. | - |
| dc.creator | Arakaki, Tomoko | - |
| dc.creator | Kauffman, Marcelo Andres | - |
| dc.creator | González Morón, Dolores | - |
| dc.creator | Figueredo, Alex M. | - |
| dc.creator | Szlago, Marina | - |
| dc.creator | Verhagen Metman, Leo | - |
| dc.date | 2019-01-04T21:59:36Z | - |
| dc.date | 2019-01-04T21:59:36Z | - |
| dc.date | 2011-03 | - |
| dc.date | 2019-01-04T16:39:03Z | - |
| dc.date.accessioned | 2019-04-29T15:44:46Z | - |
| dc.date.available | 2019-04-29T15:44:46Z | - |
| dc.date.issued | 2011-03 | - |
| dc.identifier | Abaroa, Luz; Garretto, Nelida S.; Arakaki, Tomoko; Kauffman, Marcelo Andres; González Morón, Dolores; et al.; Myoclonus and angiokeratomas in adult galactosialidosis; Wiley-liss, Div John Wiley & Sons Inc; Movement Disorders; 26; 4; 3-2011; 756-757 | - |
| dc.identifier | 0885-3185 | - |
| dc.identifier | http://hdl.handle.net/11336/67498 | - |
| dc.identifier | CONICET Digital | - |
| dc.identifier | CONICET | - |
| dc.identifier.uri | http://rodna.bn.gov.ar:8080/jspui/handle/bnmm/300936 | - |
| dc.description | Galactosialidosis is an autosomal recessive lysosomal storage disorder characterized by a combined deficiency of b- galactosidase and a-neuraminidase, due to a defect of another lysosomal protein, cathepsin A. The latter, forms a complex with b-galactosidase and neuraminidase, and protects them against excessive proteolytic degradation. Three clinical phe- notypes had been described: a severe early infantile form; a milder late infantile type with minor mental deterioration; and a juvenile/adult form, mainly found in Japan, which is characterized by slowly progressive neurological symptoms, skeletal and eye abnormalities, dysmorphism, angiokerato- mas, and long survival.1 Herein, we report a case of galacto- sialidosis of the juvenile-adult form in a Peruvian girl with angiokeratoma corporis diffusum (ACD) and myoclonus. A 24-year-old woman presented a 5-year history of invol- untary movements. At age 19, she developed a progressive myoclonic disorder that started in the lower limbs and caused frequent falls. The myoclonus subsequently spreads to other body regions. Five years into the disease, she was almost wheelchair bound, and other activities such as eating and speaking were considerably affected. There were, how- ever, no seizures or cognitive decline.Physical examination revealed densely peppered red mac- ules ranging from 1 to 3 mm on palms, elbows, knees, oral mucosa, lips, and on thighs and loins in a bath- ing suit distribution. Biochemical analysis showed elevated urinary sialyloligosaccharides char- 1 acteristic for galactosialidosis. | - |
| dc.description | Fil: Abaroa, Luz. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina | - |
| dc.description | Fil: Garretto, Nelida S.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina | - |
| dc.description | Fil: Arakaki, Tomoko. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina | - |
| dc.description | Fil: Kauffman, Marcelo Andres. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina | - |
| dc.description | Fil: González Morón, Dolores. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina | - |
| dc.description | Fil: Figueredo, Alex M.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina | - |
| dc.description | Fil: Szlago, Marina. Fundación para el Estudio de las Enfermedades Neurometabólicas; Argentina | - |
| dc.description | Fil: Verhagen Metman, Leo. Rush University Medical Center; Estados Unidos | - |
| dc.format | application/pdf | - |
| dc.format | application/pdf | - |
| dc.format | application/pdf | - |
| dc.language | eng | - |
| dc.publisher | Wiley-liss, Div John Wiley & Sons Inc | - |
| dc.relation | info:eu-repo/semantics/altIdentifier/doi/https://doi.org/10.1002/mds.23500 | - |
| dc.relation | info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/mds.23500 | - |
| dc.rights | info:eu-repo/semantics/restrictedAccess | - |
| dc.rights | https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ | - |
| dc.source | reponame:CONICET Digital (CONICET) | - |
| dc.source | instname:Consejo Nacional de Investigaciones Científicas y Técnicas | - |
| dc.source | instacron:CONICET | - |
| dc.source.uri | http://hdl.handle.net/11336/67498 | - |
| dc.subject | Angiokeratomas | - |
| dc.subject | Lysosomal disorders | - |
| dc.subject | Genetics | - |
| dc.subject | Medicina Critica y de Emergencia | - |
| dc.subject | Medicina Clínica | - |
| dc.subject | CIENCIAS MÉDICAS Y DE LA SALUD | - |
| dc.title | Myoclonus and angiokeratomas in adult galactosialidosis | - |
| dc.type | info:eu-repo/semantics/article | - |
| dc.type | info:eu-repo/semantics/publishedVersion | - |
| dc.type | info:ar-repo/semantics/articulo | - |
| Aparece en las colecciones: | CONICET | |
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