Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2018/4375434 |
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| _version_ | 1832563705289637888 |
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| author | Marco Antonio Curiati Sandra Obikawa Kyosen Vanessa Gonçalves Pereira Francy Reis da Silva Patrício Ana Maria Martins |
| author_facet | Marco Antonio Curiati Sandra Obikawa Kyosen Vanessa Gonçalves Pereira Francy Reis da Silva Patrício Ana Maria Martins |
| author_sort | Marco Antonio Curiati |
| collection | DOAJ |
| description | Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease. |
| format | Article |
| id | doaj-art-4ee8a02c0c7d4fefa85144f3f4afcf03 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-4ee8a02c0c7d4fefa85144f3f4afcf032025-02-03T01:12:49ZengWileyCase Reports in Pediatrics2090-68032090-68112018-01-01201810.1155/2018/43754344375434Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age SpectrumMarco Antonio Curiati0Sandra Obikawa Kyosen1Vanessa Gonçalves Pereira2Francy Reis da Silva Patrício3Ana Maria Martins4Reference Center for Inborn Errors of Metabolism (CREIM), Department of Pediatrics, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, BrazilReference Center for Inborn Errors of Metabolism (CREIM), Department of Pediatrics, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, BrazilLaboratory for Inborn Errors of Metabolism, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, BrazilDepartment of Pathology, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, BrazilReference Center for Inborn Errors of Metabolism (CREIM), Department of Pediatrics, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, BrazilLysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.http://dx.doi.org/10.1155/2018/4375434 |
| spellingShingle | Marco Antonio Curiati Sandra Obikawa Kyosen Vanessa Gonçalves Pereira Francy Reis da Silva Patrício Ana Maria Martins Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum Case Reports in Pediatrics |
| title | Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum |
| title_full | Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum |
| title_fullStr | Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum |
| title_full_unstemmed | Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum |
| title_short | Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum |
| title_sort | lysosomal acid lipase deficiency report of five cases across the age spectrum |
| url | http://dx.doi.org/10.1155/2018/4375434 |
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