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Normal very‐long‐chain fatty acids in peroxisomal D ‐bifunctional protein deficiency: A diagnostic pitfall
Author(s) -
SooraniLunsing R. J.,
Spronsen F. J.,
StolteDijkstra I.,
Wanders R. J.,
Ferdinandusse S.,
Waterham H. R.,
PollThe B. T.,
Rake J. P.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-0149-z
Subject(s) - peroxisome , peroxisomal disorder , phosphofructokinase 2 , bifunctional , biochemistry , human genetics , chemistry , biology , gene , catalysis
Summary We present a relatively mild case of peroxisomal D ‐bifunctional protein deficiency with inconsistent screening results in plasma for peroxisomal disorders.