A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | Spanish |
| Published: |
Elsevier
2021-05-01
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| Series: | Anales de Pediatría (English Edition) |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2341287920301344 |
| _version_ | 1830356479528402944 |
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| author | Pablo del Villar-Guerra Celia Reig Pilar Irún Blanca Moreno Pilar Giraldo Jorge J. Cebolla |
| author_facet | Pablo del Villar-Guerra Celia Reig Pilar Irún Blanca Moreno Pilar Giraldo Jorge J. Cebolla |
| author_sort | Pablo del Villar-Guerra |
| collection | DOAJ |
| first_indexed | 2024-12-20T02:07:07Z |
| format | Article |
| id | doaj.art-9fba536095704ec2a1e93c47e8283de2 |
| institution | Directory Open Access Journal |
| issn | 2341-2879 |
| language | Spanish |
| last_indexed | 2024-12-20T02:07:07Z |
| publishDate | 2021-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Anales de Pediatría (English Edition) |
| spelling | doaj.art-9fba536095704ec2a1e93c47e8283de22022-12-21T19:57:11ZspaElsevierAnales de Pediatría (English Edition)2341-28792021-05-01945327330A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and reviewPablo del Villar-Guerra0Celia Reig1Pilar Irún2Blanca Moreno3Pilar Giraldo4Jorge J. Cebolla5Servicio de Pediatría, Complejo Asistencial de Segovia, Segovia, Spain; Corresponding author.Servicio de Pediatría, Complejo Asistencial de Segovia, Segovia, SpainCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Instituto de Salud Carlos III (ISCIII), Zaragoza, SpainServicio de Pediatría, Complejo Asistencial de Segovia, Segovia, SpainCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Instituto de Salud Carlos III (ISCIII), Zaragoza, SpainDepartamento de Bioquímica y Biología Molecular y Celular, Facultad de Ciencias, Universidad de Zaragoza, Zaragoza, Spainhttp://www.sciencedirect.com/science/article/pii/S2341287920301344 |
| spellingShingle | Pablo del Villar-Guerra Celia Reig Pilar Irún Blanca Moreno Pilar Giraldo Jorge J. Cebolla A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review Anales de Pediatría (English Edition) |
| title | A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review |
| title_full | A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review |
| title_fullStr | A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review |
| title_full_unstemmed | A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review |
| title_short | A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review |
| title_sort | novel mutation in two spanish children with niemann pick disease description of genotype sphingomyelinase activity phenotype and review |
| url | http://www.sciencedirect.com/science/article/pii/S2341287920301344 |
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