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Phenotypic variability in siblings with Farber disease.

作者信息

Antonarakis S E, Valle D, Moser H W, Moser A, Qualman S J, Zinkham W H

出版信息

J Pediatr. 1984 Mar;104(3):406-9. doi: 10.1016/s0022-3476(84)81106-3.

DOI:10.1016/s0022-3476(84)81106-3
PMID:6423791
Abstract
摘要

相似文献

1
Phenotypic variability in siblings with Farber disease.患有法伯病的兄弟姐妹的表型变异性。
J Pediatr. 1984 Mar;104(3):406-9. doi: 10.1016/s0022-3476(84)81106-3.
2
Farber disease diagnosed after liver transplantation.肝移植后诊断出法伯病。
J Pediatr Gastroenterol Nutr. 2003 Feb;36(2):274-7. doi: 10.1097/00005176-200302000-00021.
3
A case of Farber disease.
Acta Paediatr Jpn. 1992 Feb;34(1):72-9. doi: 10.1111/j.1442-200x.1992.tb00928.x.
4
A family with combined Farber and Sandhoff, isolated Sandhoff and isolated fetal Farber disease: postnatal exclusion and prenatal diagnosis of Farber disease using lipid loading tests on intact cultured cells.
Eur J Pediatr. 1995 Aug;154(8):643-8. doi: 10.1007/BF02079069.
5
Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease.法布里病中的白细胞和血浆N-月桂酰鞘氨醇脱酰基酶（神经酰胺酶）
Clin Genet. 1989 Jul;36(1):38-42. doi: 10.1111/j.1399-0004.1989.tb03364.x.
6
Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts.在脂肪酸标记的硫酸脑苷脂被培养的皮肤成纤维细胞摄取后，对异染性脑白质营养不良、克拉伯病和法伯病进行诊断。
J Clin Invest. 1982 Jul;70(1):89-97. doi: 10.1172/jci110607.
7
[Farber's lipogranulomatosis. Apropos of a case].
Arch Fr Pediatr. 1985 Aug-Sep;42(7):535-6.
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Farber's disease in two siblings, sural nerve and subcutaneous biopsies by light and electron microscopy.
Acta Neuropathol. 1986;72(2):178-88. doi: 10.1007/BF00685981.
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Farber disease: pathologic diagnosis in sibs with phenotypic variability.法伯病：表型变异同胞的病理诊断
Am J Med Genet Suppl. 1987;3:233-41. doi: 10.1002/ajmg.1320280528.
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Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case.法伯脂肪肉芽肿病中的骨髓受累及梗阻性黄疸：1例新病例的临床及尸检报告
J Inherit Metab Dis. 1996;19(5):655-60. doi: 10.1007/BF01799842.

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