S. Ferdinandusse
发表
S. Ferdinandusse,
S. Denis,
L. Ijlst,
2000,
Journal of lipid research.
J. Trent,
W. Isaacs,
S. Ferdinandusse,
2002,
Cancer research.
J. Trent,
W. Isaacs,
S. Ferdinandusse,
2002
.
S. Ferdinandusse,
S. Denis,
R. Wanders,
2018,
Biochimica et biophysica acta. Molecular basis of disease.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2014,
Brain : a journal of neurology.
S. Ferdinandusse,
R. Wanders,
B. van der Zwaag,
2014,
The New England journal of medicine.
J. E. Rees,
P. Vreken,
S. Ferdinandusse,
2000,
Nature Genetics.
S. Ferdinandusse,
J. Abdenur,
J. Pitt,
2020,
Molecular genetics and metabolism reports.
Vladimir G. Gainullin,
E. Bertini,
A. Vanderver,
2020,
Annals of clinical and translational neurology.
S. Ferdinandusse,
R. Wanders,
J. Komen,
2011,
Biochimica et biophysica acta.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2020,
Advances in experimental medicine and biology.
S. Ferdinandusse,
R. Wanders,
R. Houtkooper,
2018,
Reviews in Endocrine and Metabolic Disorders.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2013,
Prenatal diagnosis.
Reilly,
Robert W. Taylor,
S. Ferdinandusse,
2018
.
Robert W. Taylor,
S. Ferdinandusse,
H. Waterham,
2018,
American journal of medical genetics. Part A.
S. Ferdinandusse,
S. Denis,
R. Wanders,
2007
.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2011,
Orphanet journal of rare diseases.
S. Ferdinandusse,
G. van Haaften,
P. V. van Hasselt,
2015,
The New England journal of medicine.
S. Ferdinandusse,
G. van Haaften,
P. V. van Hasselt,
2015,
The New England journal of medicine.
S. Ferdinandusse,
S. Denis,
C. Clarke,
2004,
Neurology.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2000,
Human molecular genetics.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2022,
Journal of inherited metabolic disease.
S. Ferdinandusse,
R. Wanders,
F. Vaz,
2007,
Biochimica et biophysica acta.
S. Ferdinandusse,
R. Wanders,
G. Besley,
1997,
Nature Genetics.
S. Ferdinandusse,
M. Schuelke,
C. Lorenz,
2016,
Movement disorders : official journal of the Movement Disorder Society.
S. Ferdinandusse,
S. Denis,
C. Clarke,
2004,
Neurology.
U. Dillmann,
S. Ferdinandusse,
S. Denis,
2006,
American journal of human genetics.
S. Ferdinandusse,
R. Wanders,
D. M. van den Brink,
2006,
FEBS letters.
N. Drouot,
S. Ferdinandusse,
M. Koenig,
2015,
European Journal of Human Genetics.
S. Ferdinandusse,
C. Hollak,
M. D. De Vries,
2019,
Journal of inherited metabolic disease.
S. Ferdinandusse,
R. Wanders,
M. van Weeghel,
2018,
Orphanet Journal of Rare Diseases.
S. Ferdinandusse,
R. Wanders,
R. Houtkooper,
2020,
Clinical nutrition.
S. Ferdinandusse,
J. Dekker,
H. Büller,
2002,
The Journal of pathology.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2016,
Journal of Inherited Metabolic Disease.
S. Ferdinandusse,
R. Wanders,
L. Ijlst,
2006,
Molecular genetics and metabolism.
S. Ferdinandusse,
S. Denis,
R. Wanders,
2005,
Journal of lipid research.
S. Ferdinandusse,
R. Wanders,
D. M. van den Brink,
2007,
Journal of Lipid Research.
S. Ferdinandusse,
S. Denis,
R. Wanders,
2009,
Journal of Lipid Research.
S. Ferdinandusse,
S. Denis,
M. Durán,
2006,
Annals of neurology.
S. Scherer,
C. Marshall,
A. Lang,
2014,
Neurology.
S. Ferdinandusse,
R. Wanders,
K. Boycott,
2012,
Orphanet Journal of Rare Diseases.
S. Ferdinandusse,
S. Denis,
R. Wanders,
2001,
Journal of lipid research.
T. Strom,
H. Williams,
H. Brunner,
2017,
American journal of human genetics.
E. Bertini,
S. Ferdinandusse,
H. Waterham,
2012,
JIMD reports.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2022,
Physiological reviews.
T. Takken,
K. Clarke,
S. Ferdinandusse,
2020,
Journal of inherited metabolic disease.
S. Ferdinandusse,
M. Langeveld,
G. Visser,
2022,
Journal of inherited metabolic disease.
S. Ferdinandusse,
S. Denis,
G. Dacremont,
2004,
Journal of Lipid Research.
S. Ferdinandusse,
S. Denis,
G. Dacremont,
2003,
Journal of Lipid Research.
S. Ferdinandusse,
R. Wanders,
E. Mayatepek,
2002,
Biochemical and Biophysical Research Communications - BBRC.
S. Ferdinandusse,
S. Denis,
R. Wanders,
2005,
Journal of Biological Chemistry.
S. Ferdinandusse,
S. Denis,
H. Waterham,
2010,
Journal of Medical Genetics.
S. Ferdinandusse,
R. Wanders,
R. Płoski,
2019,
Journal of Applied Genetics.
Brice A P Wilson,
W. Isaacs,
S. Ferdinandusse,
2007,
Journal of medicinal chemistry.
S. Ferdinandusse,
H. Waterham,
B. Poll-The,
2018,
Journal of inherited metabolic disease.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2018,
Journal of Inherited Metabolic Disease.
S. Ferdinandusse,
R. Wanders,
R. Coronel,
2020,
International journal of molecular sciences.
Role of side-chain amidation for the anticholestatic action of nourursodeoxycholic acid in rat liver
S. Ferdinandusse,
R. Wanders,
M. Trauner,
2009
.
S. Ferdinandusse,
R. Wanders,
P. Brites,
2008,
Proceedings of the National Academy of Sciences.
Amy K. Robertson,
D. Cooper,
S. Ferdinandusse,
2018,
American journal of medical genetics. Part A.
S. Ferdinandusse,
M. Schrader,
D. M. Richards,
2020,
bioRxiv.
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy
A. Moser,
F. Eichler,
G. Raymond,
2022,
Neurology.
S. Ferdinandusse,
S. Denis,
R. Wanders,
2003,
Molecular genetics and metabolism.
S. Ferdinandusse,
R. Wanders,
M. Trauner,
2009
.
The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2016,
Journal of Inherited Metabolic Disease.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2014
.
S. Ferdinandusse,
S. Denis,
G. Dacremont,
2004,
Journal of lipid research.
S. Ferdinandusse,
R. Houtkooper,
R. Wanders,
2022,
Journal of Inherited Metabolic Disease.
S. Ferdinandusse,
R. Wanders,
E. Mayatepek,
2004,
Clinica chimica acta; international journal of clinical chemistry.
S. Ferdinandusse,
H. van Lenthe,
W. Kulik,
2020,
Frontiers in Cell and Developmental Biology.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2018
.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2021,
Frontiers in Cell and Developmental Biology.
A. Vanderver,
S. Ferdinandusse,
H. Waterham,
2016,
Journal of Medical Genetics.
S. Ferdinandusse,
K. Boycott,
J. Fletcher,
2022,
Human molecular genetics.
S. Ferdinandusse,
R. Wanders,
R. Houtkooper,
2020,
Journal of lipid and atherosclerosis.
A. Moser,
D. Valle,
G. Jiménez-Sánchez,
2015,
Human molecular genetics.
S. Ferdinandusse,
S. Denis,
G. Dacremont,
2009,
Molecular genetics and metabolism.
S. Ferdinandusse,
H. Waterham,
P. Nikkels,
2017,
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.
S. Ferdinandusse,
R. Wanders,
M. Durán,
2007,
Hepatology.
S. Ferdinandusse,
H. Waterham,
F. Vaz,
2015,
Orphanet Journal of Rare Diseases.
S. Ferdinandusse,
H. Waterham,
S. Rahman,
2013,
Orphanet Journal of Rare Diseases.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2018,
Sub-cellular biochemistry.
S. Ferdinandusse,
H. Waterham,
K. Herzog,
2017,
Journal of Inherited Metabolic Disease.
S. Ferdinandusse,
J. Dekker,
H. Büller,
2002,
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.
Marc Engelen,
S. Ferdinandusse,
B. Poll-The,
2015,
Orphanet Journal of Rare Diseases.
C. Argmann,
S. Ferdinandusse,
S. Denis,
2012,
Journal of Lipid Research.
S. Ferdinandusse,
H. Waterham,
M. S. van der Knaap,
2012,
Neurology.
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
S. Ferdinandusse,
H. Waterham,
W. Newman,
2015,
American journal of human genetics.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2016,
Front. Cell Dev. Biol..
Gerbert A. Jansen,
P. Vreken,
S. Ferdinandusse,
2001
.
P. Vreken,
S. Ferdinandusse,
S. Denis,
2007
.
S. Ferdinandusse,
S. Houten,
2006,
Biochimica et biophysica acta.
P. Vreken,
S. Ferdinandusse,
S. Denis,
2001,
Journal of lipid research.
B. Heijs,
S. Ferdinandusse,
M. van der Graaf,
2020,
Journal of inherited metabolic disease.
S. Ferdinandusse,
S. Denis,
H. Riezman,
2017,
Mitochondrion.
Reddy,
S. Ferdinandusse,
S. Denis,
2007
.
A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase.
S. Ferdinandusse,
S. Denis,
H. Waterham,
2018,
Biochimica et biophysica acta. Molecular basis of disease.
A. Moser,
S. Ferdinandusse,
H. Waterham,
2017,
American journal of human genetics.
S. Ferdinandusse,
F. Vaz,
2017,
Molecular aspects of medicine.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2016,
Biochimica et biophysica acta.
S. Ferdinandusse,
H. Waterham,
H. Rosewich,
2016,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
S. Ferdinandusse,
H. Waterham,
C. Majoie,
2015,
Journal of Inherited Metabolic Disease.
D. Misceo,
S. Ferdinandusse,
H. Waterham,
2015,
Human molecular genetics.
S. Ferdinandusse,
R. Wanders,
2012,
Current drug metabolism.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2006,
Neuropediatrics.
S. Ferdinandusse,
S. Denis,
L. Ijlst,
2002,
American journal of human genetics.
S. Ferdinandusse,
S. Denis,
R. Wanders,
2007
.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2016,
Neuropediatrics.
S. Ferdinandusse,
S. Denis,
R. Wanders,
1999,
Journal of lipid research.
W. Isaacs,
S. Ferdinandusse,
S. Denis,
2005,
The Prostate.
J. Trent,
W. Isaacs,
S. Ferdinandusse,
2002
.
W. Isaacs,
S. Ferdinandusse,
S. Denis,
2003,
Cancer research.
P. Vreken,
S. Ferdinandusse,
H. Waterham,
2001,
Biochemical Society transactions.
P. Vreken,
S. Ferdinandusse,
S. Denis,
2001
.
William E. Byrd,
Gabor T. Marth,
David R. Murdock,
2020,
Genetics in Medicine.
S. Ferdinandusse,
H. Waterham,
K. Falkenberg,
2017,
Molecular genetics and metabolism.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2016,
JIMD reports.
S. Ferdinandusse,
S. Denis,
H. Waterham,
2007
.
S. Ferdinandusse,
2002
.
S. Ferdinandusse,
S. Denis,
L. Ijlst,
1999,
Biochemical and biophysical research communications.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2017,
Journal of Inherited Metabolic Disease.
Georges Dacremont,
Ronald J A Wanders,
S. Ferdinandusse,
2003,
Journal of Lipid Research.
S. Ferdinandusse,
G. Matthijs,
L. Diogo,
2017,
JIMD reports.
S. Ferdinandusse,
R. Wanders,
S. Mellgren,
2015,
Clinical case reports.
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
S. Lovell,
S. Ferdinandusse,
H. van Lenthe,
2019,
Brain : a journal of neurology.
S. Ferdinandusse,
M. Blomqvist,
K. Ahlberg,
2017,
Journal of Medical Case Reports.
N. Drouot,
S. Ferdinandusse,
M. Koenig,
2016,
Journal of Neurology.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2017,
Methods in molecular biology.
S. Ferdinandusse,
K. Boycott,
K. Kernohan,
2017,
European Journal of Human Genetics.
J. E. Rees,
P. Vreken,
S. Ferdinandusse,
2007
.
S. Ferdinandusse,
H. Waterham,
A. V. van Kuilenburg,
2019,
Journal of inherited metabolic disease.
D. Weeks,
S. Ferdinandusse,
D. Dimmock,
2020,
American journal of medical genetics. Part A.
F. Speleman,
J. Vandesompele,
S. Ferdinandusse,
2003,
Advances in experimental medicine and biology.
S. Ferdinandusse,
J. VandeBerg,
J. Vandeberg,
2008,
Metabolism: clinical and experimental.
S. Ferdinandusse,
A. Stray-Pedersen,
P. Rinaldo,
2020,
International Journal of Neonatal Screening.
S. Ferdinandusse,
A. Stray-Pedersen,
P. Rinaldo,
2020,
International journal of neonatal screening.
S. Ferdinandusse,
M. Trauner,
U. Beuers,
2010,
Hepatology.
S. Ferdinandusse,
R. Wanders,
M. Haslbeck,
2014,
PLoS ONE.
S. Ferdinandusse,
R. Wanders,
M. Haslbeck,
2014,
PLoS ONE.
P. Vreken,
S. Ferdinandusse,
Ronald,
2007
.
P. Vreken,
S. Ferdinandusse,
G. Dacremont,
2002,
Journal of lipid research.
P. Grant,
S. Ferdinandusse,
T. Yu,
2020,
American journal of medical genetics. Part A.
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate
S. Ferdinandusse,
R. Wanders,
B. Andresen,
2016,
Journal of Inherited Metabolic Disease.
S. Ferdinandusse,
P. Maton,
J. Caberg,
2016,
Clinical genetics.
S. Ferdinandusse,
R. Wanders,
R. Houtkooper,
2021,
Frontiers in Pharmacology.
A. Moser,
S. Ferdinandusse,
S. Denis,
2007,
Human mutation.
S. Ferdinandusse,
M. Langeveld,
C. Hollak,
2022,
JIMD reports.
S. Ferdinandusse,
R. Wanders,
B. Mclean,
2002,
Journal of neurology, neurosurgery, and psychiatry.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2015,
Genetics in Medicine.
S. Ferdinandusse,
R. Wanders,
P. Brites,
2010,
Biochimica et biophysica acta.
S. Ferdinandusse,
R. Wanders,
A. Nederveen,
2020,
Journal of inherited metabolic disease.
J. Hiltunen,
S. Ferdinandusse,
H. Waterham,
2006,
American journal of human genetics.
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
S. Ferdinandusse,
R. Houtkooper,
M. Pras-Raves,
2020,
Biochimica et biophysica acta. Molecular basis of disease.
S. Ferdinandusse,
H. Waterham,
J. Koster,
2016,
Histochemistry and Cell Biology.
S. Ferdinandusse,
R. Wanders,
A. Boneh,
2015,
Molecular genetics and metabolism.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2019,
Human mutation.
Link,
S. Ferdinandusse,
2007
.
S. Ferdinandusse,
R. Wanders,
D. Kerr,
2017,
Molecular genetics and metabolism.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2019,
Journal of inherited metabolic disease.
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.
S. Ferdinandusse,
R. Wanders,
N. Verhoeven,
1999,
Advances in experimental medicine and biology.
S. Ferdinandusse,
H. Waterham,
H. Blom,
2021,
JIMD reports.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2017,
Molecular genetics and metabolism.
S. Heymans,
H. Brunner,
S. Ferdinandusse,
2017,
European Journal of Human Genetics.
S. Ferdinandusse,
S. Denis,
M. Huigen,
2022,
Molecular genetics and metabolism reports.
S. Ferdinandusse,
N. Darín,
J. Ruiter,
2022,
Journal of inherited metabolic disease.
S. Ferdinandusse,
R. Wanders,
T. Derks,
2019,
Journal of inherited metabolic disease.
S. Ferdinandusse,
H. Waterham,
T. Derks,
2018,
Journal of inherited metabolic disease.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2019
.
S. Ferdinandusse,
H. Waterham,
T. Derks,
2018,
Journal of Inherited Metabolic Disease.
S. Ferdinandusse,
P. Chetcuti,
A. Morris,
2015,
JIMD reports.
S. Ferdinandusse,
H. Waterham,
L. Kluijtmans,
2016,
JIMD reports.
F. Baas,
S. Ferdinandusse,
R. Wanders,
2018,
European Journal of Human Genetics.
S. Ferdinandusse,
N. Longo,
R. Mao,
2018,
JIMD reports.
S. Ferdinandusse,
L. Reneman,
B. Poll-The,
2018,
JIMD reports.
Merel E. Hermans,
S. Ferdinandusse,
A. V. van Kuilenburg,
2022,
Journal of inherited metabolic disease.
J. H. van der Lee,
S. Ferdinandusse,
S. Roosendaal,
2020,
Brain communications.
S. Ferdinandusse,
C. Hollak,
M. D. De Vries,
2020,
Molecular genetics and metabolism.
S. Ferdinandusse,
P. Bonnen,
J. Abdenur,
2015,
Molecular genetics and metabolism.
Preti Jain,
S. Ferdinandusse,
W. Ji,
2021,
American journal of medical genetics. Part A.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2010,
Journal of Neurology, Neurosurgery & Psychiatry.
R. Barker,
S. Ferdinandusse,
R. Wanders,
2008,
Journal of neurology, neurosurgery, and psychiatry.
S. Ferdinandusse,
T. Theelen,
P. Steijlen,
2020,
JIMD reports.
S. Ferdinandusse,
H. Waterham,
L. de Meirleir,
2015,
American journal of medical genetics. Part A.
Meghan C Towne,
S. Ferdinandusse,
C. Brownstein,
2018,
JIMD reports.
S. Ferdinandusse,
H. Waterham,
K. Herzog,
2017,
Journal of Inherited Metabolic Disease.
S. Ferdinandusse,
S. Denis,
G. Dacremont,
2000,
Journal of lipid research.
S. Ferdinandusse,
E. Christensen,
R. Wanders,
2004,
Neurology.
S. Ferdinandusse,
S. Denis,
R. Wanders,
2005,
Journal of Lipid Research.
ACOX3 Dysfunction as a Potential Cause of Recurrent Spontaneous Vasospasm of Internal Carotid Artery
S. Ferdinandusse,
S. Denis,
Ji Eun Lee,
2020,
Translational Stroke Research.
ACOX3 Dysfunction as a Potential Cause of Recurrent Spontaneous Vasospasm of Internal Carotid Artery
S. Ferdinandusse,
S. Denis,
Ji Eun Lee,
2020,
Translational Stroke Research.
S. Ferdinandusse,
R. Wanders,
A. V. Kuilenburg,
2013
.
Newborn screening for primary carnitine deficiency: who will benefit? – a retrospective cohort study
S. Ferdinandusse,
M. Langeveld,
M. D. De Vries,
2023,
Journal of Medical Genetics.
S. Ferdinandusse,
R. Houtkooper,
F. Vaz,
2023,
bioRxiv.
S. Ferdinandusse,
R. Wanders,
M. Langeveld,
2020,
JIMD reports.
S. Ferdinandusse,
S. Mohiddin,
E. Monda,
2023,
European journal of medical genetics.
S. Ferdinandusse,
H. Waterham,
T. Derks,
2018,
Journal of Inherited Metabolic Disease.
S. Ferdinandusse,
S. Denis,
H. Waterham,
2010,
Journal of Medical Genetics.
S. Ferdinandusse,
K. Boycott,
D. Bulman,
2013,
Orphanet Journal of Rare Diseases.
S. Ferdinandusse,
H. Waterham,
R. Wanders,
2003,
Advances in experimental medicine and biology.
S. Ferdinandusse,
D. Cassiman,
F. Vaz,
2022,
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.
S. Ferdinandusse,
G. Salomons,
Frédéric M. Vaz,
2024,
Journal of inherited metabolic disease.
Samantha L. van der Beek,
S. Ferdinandusse,
A. Heijboer,
2022,
Journal of Inherited Metabolic Disease.
S. Ferdinandusse,
M. Vera,
S. Kemp,
2021,
Genes.
S. Ferdinandusse,
A. Bertoli-Avella,
L. Bastaki,
2023,
Molecular genetics & genomic medicine.