GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case
The observation of generalized GM1 gangliosidosis type 1 (Norman-Landing disease) is reported. The case is typical, featuring all the main clinical and biological signs of the disease. Diagnosis was established by the demonstration of a severe deficit in beta-galactosidase activity in leucocytes, by...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Academia Brasileira de Neurologia (ABNEURO)
1987-03-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1987000100008&lng=en&tlng=en |
| _version_ | 1819090881540521984 |
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| author | Ligia Maria Barbosa-Coutinho Beatriz Maria Assis-Brasil Maria de Lourdes Drachler Newra Tellechea Rotta Roberto Giuliani |
| author_facet | Ligia Maria Barbosa-Coutinho Beatriz Maria Assis-Brasil Maria de Lourdes Drachler Newra Tellechea Rotta Roberto Giuliani |
| author_sort | Ligia Maria Barbosa-Coutinho |
| collection | DOAJ |
| description | The observation of generalized GM1 gangliosidosis type 1 (Norman-Landing disease) is reported. The case is typical, featuring all the main clinical and biological signs of the disease. Diagnosis was established by the demonstration of a severe deficit in beta-galactosidase activity in leucocytes, by the demonstration of oligosacarides in the urine, and by the histological examination after the fatal outcome before the age of two with severe respiratory distress. |
| first_indexed | 2024-12-21T22:30:52Z |
| format | Article |
| id | doaj.art-e8140b11cc10425ca1fdacdce5d8e855 |
| institution | Directory Open Access Journal |
| issn | 1678-4227 |
| language | English |
| last_indexed | 2024-12-21T22:30:52Z |
| publishDate | 1987-03-01 |
| publisher | Academia Brasileira de Neurologia (ABNEURO) |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj.art-e8140b11cc10425ca1fdacdce5d8e8552022-12-21T18:48:06ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria1678-42271987-03-01451606610.1590/S0004-282X1987000100008S0004-282X1987000100008GM1 - type 1 glanglio sido sis: anatomo-clinic study of a caseLigia Maria Barbosa-Coutinho0Beatriz Maria Assis-Brasil1Maria de Lourdes Drachler2Newra Tellechea Rotta3Roberto Giuliani4Universidade Federal do Rio Grande do SulUniversidade Federal do Rio Grande do SulUniversidade Federal do Rio Grande do SulUniversidade Federal do Rio Grande do SulUniversidade Federal do Rio Grande do SulThe observation of generalized GM1 gangliosidosis type 1 (Norman-Landing disease) is reported. The case is typical, featuring all the main clinical and biological signs of the disease. Diagnosis was established by the demonstration of a severe deficit in beta-galactosidase activity in leucocytes, by the demonstration of oligosacarides in the urine, and by the histological examination after the fatal outcome before the age of two with severe respiratory distress.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1987000100008&lng=en&tlng=en |
| spellingShingle | Ligia Maria Barbosa-Coutinho Beatriz Maria Assis-Brasil Maria de Lourdes Drachler Newra Tellechea Rotta Roberto Giuliani GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case Arquivos de Neuro-Psiquiatria |
| title | GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case |
| title_full | GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case |
| title_fullStr | GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case |
| title_full_unstemmed | GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case |
| title_short | GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case |
| title_sort | gm1 type 1 glanglio sido sis anatomo clinic study of a case |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1987000100008&lng=en&tlng=en |
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