Bär, J
Molecular analysis of acid ceramidase deficiency in patients with Farber disease. [electronic resource]
- Human mutation Mar 2001
- 199-209 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
1098-1004
10.1002/humu.5 doi
Acid Ceramidase
Amidohydrolases--deficiency
Animals
COS Cells
Cells, Cultured
Ceramidases
Child, Preschool
DNA--chemistry
DNA Mutational Analysis
DNA, Complementary--chemistry
Fatal Outcome
Female
Fibroblasts--cytology
Humans
Infant
Lysosomal Storage Diseases--enzymology
Male
Mutation
Precipitin Tests