合計: 2 |
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PMID (PMCID) | ||
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20609603 |
MALE | |
Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation. | ||
Cvitanovic-Sojat L, Gjergja Juraski R, Sabourdy F, Fensom AH, Fumic K, Paschke E, Levade T. Eur J Paediatr Neurol. 2011;15(2):171-3. |
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Farber lipogranulomatosis should be suspected in children with joint swelling as the first and only symptom of disease. | ||
20609603 |
MALE | |
Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation. | ||
Cvitanovic-Sojat L, Gjergja Juraski R, Sabourdy F, Fensom AH, Fumic K, Paschke E, Levade T. Eur J Paediatr Neurol. 2011;15(2):171-3. |
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We report a boy with an unusually late presentation of Farber lipogranulomatosis type l. The first symptoms appeared at the end of the first year of life in the form of joint swelling; other symptoms such as cherry-red spot, hoarseness, subcutaneous nodules appeared much later. |