Search Results - Sacha Ferdinandusse
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Peroxisomes and bile acid biosynthesis by Sacha Ferdinandusse, Sander M. Houten
Published 2006Revisão -
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Human disorders of peroxisome metabolism and biogenesis by Hans R. Waterham, Sacha Ferdinandusse, Ronald J. A. Wanders
Published 2015Revisão -
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Bile acids: the role of peroxisomes by Sacha Ferdinandusse, Simone Denis, Phyllis L. Faust, Ronald J. A. Wanders
Published 2009Revisão -
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Disorders of fatty acid homeostasis by Frédéric M. Vaz, Sacha Ferdinandusse, Gajja S. Salomons, Ronald J. A. Wanders
Published 2024Revisão -
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The physiological functions of human peroxisomes by Ronald J. A. Wanders, Myriam Baes, Daniela Ribeiro, Sacha Ferdinandusse, Hans R. Waterham
Published 2022Revisão -
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Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy by Sacha Ferdinandusse, Panagiotis Kostopoulos, Simone Denis, H. Rusch, Henk Overmars, Ulrich Dillmann, Wolfgang Reith, Dorothea Haas, Ronald J. A. Wanders, M. Durán, Martin Marziniak
Published 2006Artigo -
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Evaluation of C26:0‐lysophosphatidylcholine and C26:0‐carnitine as diagnostic markers for Zellweger spectrum disorders by Femke C. C. Klouwer, Sacha Ferdinandusse, Henk van Lenthe, Wim Kulik, Ronald J. A. Wanders, Bwee Tien Poll‐The, Hans R. Waterham, Frédéric M. Vaz
Published 2017Artigo -
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Clinical, biochemical, and mutational spectrum of peroxisomal acyl–coenzyme A oxidase deficiency by Sacha Ferdinandusse, Simone Denis, Eveline M. Hogenhout, Janet Koster, Carlo W.T. van Roermund, Lodewijk IJlst, Ann B. Moser, Ronald J. A. Wanders, Hans R. Waterham
Published 2007Artigo
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Biology
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Biochemistry
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Peroxisome
Internal medicine
Genetics
Endocrinology
Chemistry
Enzyme
Peroxisomal disorder
Zellweger syndrome
Mutation
Receptor
Compound heterozygosity
Membrane
Phospholipid
Beta oxidation
Fatty acid
Metabolism
Mitochondrion
Newborn screening
Pediatrics
Cell biology
Exome sequencing
Phenotype
Plasmalogen
Carnitine
Exon
Adrenoleukodystrophy