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Molecular basis of d-bifunctional protein deficiency
by
Möller, G
,
van Grunsven, E.G
,
Wanders, R.J.A
,
Adamski, J
Published in
Molecular and cellular endocrinology
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Sensitive analysis of serum 3α, 7α, 12α,24-tetrahydroxy-5β-cholestan-26-oic acid diastereomers using gas chromatography–mass spectrometry and its application in peroxisomal d-bifun...
by
Vreken, P.
,
van Rooij, A.
,
Denis, S.
,
van Grunsven, E.G.
,
Cuebas, D.A.
,
Wanders, R.J.A.
Published in
Journal of lipid research
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Reinvestigation of Peroxisomal 3-Ketoacyl-CoA Thiolase Deficiency: Identification of the True Defect at the Level of d-Bifunctional Protein
by
Ferdinandusse, S.
,
van Grunsven, E.G.
,
Oostheim, W.
,
Denis, S.
,
Hogenhout, E.M.
,
IJlst, L.
,
van Roermund, C.W.T.
,
Waterham, H.R.
,
Goldfischer, S.
,
Wanders, R.J.A.
Published in
American journal of human genetics
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Peroxisomal Bifunctional Protein Deficiency Revisited: Resolution of Its True Enzymatic and Molecular Basis
by
van Grunsven, E.G.
,
van Berkel, E.
,
Mooijer, P.A.W.
,
Watkins, P.A.
,
Moser, H.W.
,
Suzuki, Y.
,
Jiang, L.L.
,
Hashimoto, T.
,
Hoefler, G.
,
Adamski, J.
,
Wanders, R.J.A.
Published in
American journal of human genetics
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Complementation Analysis of Fibroblasts from Peroxisomal Fatty Acid Oxidation Deficient Patients Shows High Frequency of Bifunctional Enzyme Deficiency Plus Intragenic Complementat...
by
van Grunsven, E.G.
,
van Roermund, C.W.T.
,
Denis, S.
,
Wanders, R.J.A.
Published in
Biochemical and biophysical research communications
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American Journal Of Human Genetics
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Am J Hum Genet
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Biochemical And Biophysical Research Communications
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Journal Of Lipid Research
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Molecular And Cellular Endocrinology
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Humans
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Life Sciences & Biomedicine
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Multienzyme Complexes - Genetics
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17-Hydroxysteroid Dehydrogenases
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3-Hydroxyacyl Coa Dehydrogenases - Deficiency
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3-Hydroxyacyl Coa Dehydrogenases - Genetics
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Enoyl-Coa Hydratase
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Hydro-Lyases - Genetics
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Multienzyme Complexes - Deficiency
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Peroxisomal Multifunctional Protein-2
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Fatty Acids - Metabolism
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Hydro-Lyases - Deficiency
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