| Autor: |
Smith WE; Department of Pediatrics, Duke University Medical Center, DUMC 3528 Bell Building, Trent Dr., Durham, NC 27710, USA., Kahler SG, Frush DP, Milov DE, Gottfried MR, Chen YT |
| Jazyk: |
angličtina |
| Zdroj: |
The Journal of pediatrics [J Pediatr] 2001 Jun; Vol. 138 (6), pp. 946-8. |
| DOI: |
10.1067/mpd.2001.113103 |
| Abstrakt: |
We report 2 patients with confirmed Niemann-Pick disease, type B, with previous diagnoses of glycogen storage disease based on excessive glycogen on liver biopsy specimens. These cases emphasize the importance of a complete evaluation, including biochemical confirmation, for patients with suspected metabolic storage diseases. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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