- Farber Disease Misdiagnosed as Hemangioendothelioma
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Lee SM, Oh C, Jung SE, Kim HY
- KMID: 2363025
- J Korean Assoc Pediatr Surg.
- 2016 Dec;22(2):54-58.
- doi: 10.13029/jkaps.2016.22.2.54
Farber disease (FD) is a rare lysosomal storage disorder that shows autosomal recessive inheritance. We report the case of a 58-month-old girl with FD, who was misdiagnosed with epithelioid hemangioendothelioma.... -
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- Sphingolipidoses
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Yoo HW
- KMID: 2168069
- Hanyang Med Rev.
- 2005 Aug;25(3):19-26.
Sphingolipidoses are a subgroup of lysosomal storage disorders. They are characterized by relentless progressive storage in affected organs and concomitant functional impairments. No overall screening procedure for these disorders is... -
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