F. V. van Spronsen
发表
Christian Gilissen,
Alexander Hoischen,
Ron A Wevers,
2012,
Human molecular genetics.
R. Pfundt,
C. Biot,
R. Rodenburg,
2018,
Human molecular genetics.
L. Kluijtmans,
A. Heijboer,
A. Boelen,
2020,
JIMD reports.
H. Waterham,
T. Derks,
M. D. De Vries,
2019,
Journal of inherited metabolic disease.
Y. Chien,
T. Coşkun,
K. Bhattacharya,
2019,
Molecular genetics and metabolism.
J. Burgerhof,
C. Hollak,
N. Blau,
2013,
Orphanet Journal of Rare Diseases.
N. Blau,
A. Macdonald,
M. Giovannini,
2009,
Molecular genetics and metabolism.
M. Veiga-da-Cunha,
S. Wortmann,
T. Derks,
2020,
Blood.
Hubertus C M T Prinsen,
M. Huigen,
L. Kluijtmans,
2020,
JIMD reports.
Anne-Lise Bjørke Monsen,
D. Reijngoud,
F. V. van Spronsen,
2011,
Molecular genetics and metabolism.
F. V. van Spronsen,
A. Bélanger-Quintana,
F. Spronsen,
2011,
JIMD reports.
G. Enns,
F. V. van Spronsen,
2010,
Molecular genetics and metabolism.
M. Nelen,
R. Sinke,
M. Dollé,
2022,
International journal of neonatal screening.
S. Santra,
A. Macdonald,
S. Evans,
2019,
Orphanet Journal of Rare Diseases.
N. Blau,
S. Santra,
A. Macdonald,
2015,
Molecular genetics and metabolism.
N. Blau,
D. Reijngoud,
F. V. van Spronsen,
2010,
Molecular genetics and metabolism.
P. Sijens,
A. Schulze,
C. Jakobs,
2007,
Molecular genetics and metabolism.
N. Longo,
C. V. van Karnebeek,
B. Maranda,
2014,
Molecular genetics and metabolism.
M. Oudkerk,
P. Sijens,
F. V. van Spronsen,
2005,
Molecular genetics and metabolism.
Irene J. Hoogeveen,
F. de Boer,
T. Derks,
2018,
Journal of Inherited Metabolic Disease.
W. Kamps,
R. Tamminga,
D. Lefeber,
2008,
Pediatric hematology and oncology.
G. Matthijs,
R. Wevers,
S. Wortmann,
2011,
Biochimica et biophysica acta.
N. Blau,
S. Huijbregts,
A. Macdonald,
2017,
Orphanet Journal of Rare Diseases.
N. Borges,
E. Ramos,
D. Quelhas,
2012,
Molecular genetics and metabolism.
S. Tims,
T. Coşkun,
Rani H. Singh,
2018,
Expert Opinion on Orphan Drugs.
Rani H. Singh,
A. Macdonald,
J. Rocha,
2018,
Nutrition Research Reviews.
M. Heiner-Fokkema,
T. Derks,
A. Macdonald,
2014,
Orphanet Journal of Rare Diseases.
P. Sauer,
D. Reijngoud,
F. V. van Spronsen,
2007,
Nutrition.
R. Koch,
F. V. van Spronsen,
M. Rijn,
2001,
The American journal of clinical nutrition.
T. Derks,
T. D. de Koning,
G. Visser,
2016,
Neonatology.
C. Hollak,
S. Demirdas,
A. Bosch,
2013,
Orphanet Journal of Rare Diseases.
R. Lachmann,
R. Manara,
A. Burlina,
2019,
Journal of inherited metabolic disease.
C. Hollak,
M. Heiner-Fokkema,
M. Vries,
2011,
Molecular genetics and metabolism.
J. Giltay,
B. Poll-The,
J. Smeitink,
1996,
Human heredity.
N. Blau,
A. Macdonald,
M. Giovannini,
2010,
Molecular genetics and metabolism.
D. Rizopoulos,
J. Jans,
M. D. De Vries,
2020,
Clinical nutrition.
J. V. van Zanden,
M. Heiner-Fokkema,
A. M. Muller Kobold,
2021,
Pediatric Research.
H. Waterham,
M. Heiner-Fokkema,
T. Derks,
2014,
Pediatrics.
Y. Wada,
J. Veltman,
C. Stanley,
2014,
The New England journal of medicine.
S. Huijbregts,
A. Macdonald,
V. Leuzzi,
2022,
Nutrients.
L. Meiners,
G. Schwarz,
T. Derks,
2017,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
M. Heiner-Fokkema,
M. D. De Vries,
F. V. van Spronsen,
2019,
Molecular Genetics and Metabolism.
S. Santra,
A. Macdonald,
S. Evans,
2019,
Nutrients.
T. Derks,
A. Macdonald,
A. Daly,
2017,
JIMD reports.
P. Sauer,
D. Reijngoud,
F. V. van Spronsen,
2011,
Annals of Nutrition and Metabolism.
P. Sauer,
D. Reijngoud,
F. V. van Spronsen,
2011,
Molecular genetics and metabolism.
H. Heymans,
T. V. van Dijk,
D. Reijngoud,
1993,
Pediatrics.
J. Kimpen,
R. V. van Elburg,
F. V. van Spronsen,
1996,
The Pediatric infectious disease journal.
C. Hollak,
F. Eyskens,
D. Cassiman,
2022,
Journal of inherited metabolic disease.
M. Heiner-Fokkema,
M. van Faassen,
I. Kema,
2018,
The Journal of nutritional biochemistry.
L. D. de Sonneville,
S. Huijbregts,
J. J. van der Meere,
2014,
The Journal of pediatrics.
V. Stoppioni,
J. Vockley,
B. Burton,
2020,
American journal of human genetics.
E. Zee,
A. Martynyuk,
F. V. van Spronsen,
2010,
Molecular genetics and metabolism.
M. Langeveld,
J. Jans,
M. D. De Vries,
2019,
Journal of inherited metabolic disease.
H. Heymans,
D. Reijngoud,
F. Stellaard,
1998,
The Journal of clinical investigation.
M. Heiner-Fokkema,
I. Kema,
F. V. van Spronsen,
2021,
Molecular genetics and metabolism.
Aurora Martínez,
M. Heiner-Fokkema,
M. van Faassen,
2019,
Nutrients.
C. Hollak,
L. D. de Sonneville,
S. Huijbregts,
2018,
Molecular genetics and metabolism.
C. Hollak,
L. D. de Sonneville,
S. Huijbregts,
2017,
Behavior Genetics.
S. Puglisi‐Allegra,
M. Heiner-Fokkema,
E. Zee,
2016,
The American journal of clinical nutrition.
A. Bosch,
F. V. van Spronsen,
M. Giżewska,
2012,
Annals of Nutrition and Metabolism.
P. Sauer,
D. Reijngoud,
F. V. van Spronsen,
2005,
Archives of Disease in Childhood.
J. Burgerhof,
S. Huijbregts,
F. Rutsch,
2021,
Pediatric Research.
M. Heiner-Fokkema,
T. Derks,
C. Volker-Touw,
2019,
Molecular genetics and metabolism.
M. Oudkerk,
P. Sijens,
J. D. de Groot,
2009,
Molecular genetics and metabolism.
N. Maurits,
L. Meiners,
P. Sijens,
2009,
Journal of magnetic resonance imaging : JMRI.
M. Oudkerk,
L. Meiners,
P. Sijens,
2006,
Molecular genetics and metabolism.
M. Oudkerk,
D. Reijngoud,
P. Sijens,
2006,
Molecular genetics and metabolism.
R. Koch,
F. V. van Spronsen,
P. G. Smit,
2001,
Journal of Inherited Metabolic Disease.
S. Waisbren,
D. White,
F. V. van Spronsen,
2010,
Molecular genetics and metabolism.
L. Kluijtmans,
R. Wevers,
O. Bonnot,
2018,
Journal of Inherited Metabolic Disease.
F. Chiarotti,
V. Leuzzi,
Francesca Nardecchia,
2019,
Journal of Medical Genetics.
M. D. De Vries,
M. Janssen,
F. V. van Spronsen,
2018,
Molecular Genetics and Metabolism.
A. Diepstra,
B. Beck,
R. Berger,
2016,
Pediatric Nephrology.
M. Heiner-Fokkema,
S. Huijbregts,
I. Kema,
2021,
Molecular genetics and metabolism.
M. Heiner-Fokkema,
A. Vogel,
F. V. van Spronsen,
2019,
Nutrients.
M. Heiner-Fokkema,
T. Derks,
E. Zee,
2015,
Molecular genetics and metabolism.
D. Reijngoud,
F. V. van Spronsen,
M. van Rijn,
2010,
Journal of Inherited Metabolic Disease.
Irene J. Hoogeveen,
F. de Boer,
M. Heiner-Fokkema,
2015,
JIMD reports.
J. Saris,
M. Kruijshaar,
A. T. van der Ploeg,
2016,
European Journal of Human Genetics.
D. Reijngoud,
K. Niezen-Koning,
F. V. van Spronsen,
2007,
Molecular genetics and metabolism.
N. Blau,
S. Huijbregts,
A. Burlina,
2017,
The lancet. Diabetes & endocrinology.
F. V. van Spronsen,
2011,
Journal of inherited metabolic disease.
L. Kluijtmans,
M. Heiner-Fokkema,
D. Reijngoud,
2016,
JIMD reports.
J. H. van der Lee,
C. Hollak,
P. Bisschop,
2017,
Annals of Nutrition and Metabolism.
A. Macdonald,
K. Ross,
S. Evans,
2015,
Molecular genetics and metabolism.
R. Sokol,
J. Saudubray,
E. Sokal,
1999,
European Journal of Pediatrics.
H. Heymans,
T. V. van Dijk,
D. Reijngoud,
1996,
The American journal of clinical nutrition.
A. Federico,
C. V. van Karnebeek,
C. Hollak,
2018,
Orphanet Journal of Rare Diseases.
J. H. van der Lee,
C. Hollak,
M. Wagenmakers,
2020,
Journal of inherited metabolic disease.
N. Blau,
B. Thöny,
G. Hoffmann,
2017,
Journal of Medical Genetics.
J. van der Meer,
W. Geven,
F. V. van Spronsen,
2004,
Placenta.
J. Sergeant,
L. D. de Sonneville,
S. Huijbregts,
2011,
Journal of Inherited Metabolic Disease.
S. Huijbregts,
V. Leuzzi,
A. Bosch,
2011,
Molecular genetics and metabolism.
C. Hollak,
M. Heiner-Fokkema,
C. Harding,
2019,
Pediatric Drugs.
Melissa L McPheeters,
Mary Lou Lindegren,
Anita MacDonald,
2014,
Molecular genetics and metabolism.
C. V. van Karnebeek,
L. Tseng,
L. Bok,
2021,
European journal of paediatric neurology.
J. Bierau,
F. V. van Spronsen,
D. Habets,
2012,
JIMD reports.
J. Pruim,
A. Paans,
D. Reijngoud,
2009,
Molecular genetics and metabolism.
C. V. van Karnebeek,
M. Stojiljkovic,
P. Mathisen,
2019,
Nutrients.
N. Blau,
A. Macdonald,
M. Giovannini,
2010,
Pediatrics.
E. J. van der Jagt,
A. Gouw,
H. Verkade,
2015,
Pediatrics.
H. Mandel,
M. Hochuli,
J. Jordan,
2014,
Orphanet Journal of Rare Diseases.
A. T. van der Ploeg,
P. V. van Hasselt,
F. Wijburg,
2006,
Molecular genetics and metabolism.
F. Wijburg,
F. V. van Spronsen,
C. Bijleveld,
2005,
Journal of pediatric gastroenterology and nutrition.
J. Sergeant,
L. D. de Sonneville,
L. Sonneville,
2002,
Journal of Inherited Metabolic Disease.
A. Moser,
S. Ferdinandusse,
H. Waterham,
2017,
American journal of human genetics.
K. Niezen-Koning,
F. V. van Spronsen,
O. V. van Diggelen,
2007,
Molecular genetics and metabolism.
F. Maillot,
L. Chabraoui,
F. V. van Spronsen,
2021,
The Journal of pediatrics.
K. Scheffler,
D. Berg,
A. Padovani,
2020,
Neurology.
N. Blau,
S. Huijbregts,
A. Burlina,
2017
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C. Hollak,
L. D. de Sonneville,
S. Huijbregts,
2016,
Journal of Inherited Metabolic Disease.
N. Blau,
T. Coşkun,
A. Burlina,
2015,
European Journal of Pediatrics.
N. Borges,
E. Ramos,
J. Rocha,
2013,
Molecular genetics and metabolism.
M. L. Cardoso,
N. Borges,
J. Rocha,
2010,
Annals of Nutrition and Metabolism.
A. Bos,
F. V. van Spronsen,
J. Bruggink,
2009,
Early human development.
F. de Boer,
T. Derks,
F. V. van Spronsen,
2013,
Molecular genetics and metabolism.
J. Vockley,
S. Wortmann,
T. Derks,
2020,
Genetics in Medicine.
D. Counotte,
F. V. van Spronsen,
Vibeke M. Bruinenberg,
2019,
PloS one.
B. Wolffenbuttel,
F. V. van Spronsen,
C. Lubout,
2022,
Nutrients.
Joana Falcão Salles,
F. V. van Spronsen,
S. Vink,
2022,
Frontiers in Nutrition.
Paul E Sijens,
L. Meiners,
P. Sijens,
2009,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
H. Heymans,
T. V. van Dijk,
D. Reijngoud,
1996,
Pediatrics.
A. Attali,
F. V. van Spronsen,
Martijn C. de Wilde,
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Nutrients.
Pedro Rebelo-Guiomar,
M. Minczuk,
G. Pruijn,
2018,
Nature Communications.
S. Grünert,
Irene J. Hoogeveen,
F. de Boer,
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Journal of inherited metabolic disease.
V. Fidler,
H. Heymans,
P. Clayton,
1994,
Hepatology.
J. Pennings,
F. V. van Spronsen,
Willem G. van Ginkel,
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Advances in experimental medicine and biology.
J. Burgerhof,
M. Heiner-Fokkema,
S. Santra,
2019,
Nutrients.
R. Slart,
F. V. van Spronsen,
M. van Rijn,
2012,
Molecular genetics and metabolism.
M. Langeveld,
T. Coşkun,
S. Huijbregts,
2021,
Molecular genetics and metabolism.
N. Blau,
A. Macdonald,
F. V. van Spronsen,
2011,
Molecular Genetics and Metabolism.
F. V. van Spronsen,
P. Verkerk,
P. Verkerk,
1994,
Archives of disease in childhood.
M. Gordijn,
A. Macdonald,
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Front. Neurol..
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Molecular genetics and metabolism.
J. R. Kuipers,
M. Cornel,
S. Verloove-vanhorick,
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The Journal of pediatrics.
M. Heiner-Fokkema,
E. Zee,
M. van Faassen,
2015,
PloS one.
J. Burgerhof,
M. Heiner-Fokkema,
A. Macdonald,
2017,
Journal of Inherited Metabolic Disease.
F. Eyskens,
D. Cassiman,
S. Huijbregts,
2016,
Orphanet Journal of Rare Diseases.
G. Visser,
F. Wijburg,
F. V. van Spronsen,
2016,
European Journal of Pediatrics.
F. V. van Spronsen,
2010,
Nature Reviews Endocrinology.
M. Heiner-Fokkema,
T. Derks,
F. V. van Spronsen,
2015,
JIMD reports.
Joana Falcão Salles,
F. V. van Spronsen,
E. A. van der Zee,
2020,
Frontiers in Endocrinology.
J. Sergeant,
L. D. de Sonneville,
L. Sonneville,
2003,
Neuropsychology.
M. Heiner-Fokkema,
E. Zee,
F. V. van Spronsen,
2016,
Front. Behav. Neurosci..
J. Koelman,
J. D. de Vries,
J. Spikman,
2016,
Orphanet Journal of Rare Diseases.
Nenad Blau,
Roberto Cerone,
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Pediatrics.
R. Rodenburg,
M. Schuelke,
B. Lucke,
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Annals of neurology.
Pedro Rebelo-Guiomar,
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Nature Communications.
B. Wolffenbuttel,
M. Heiner-Fokkema,
F. V. van Spronsen,
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Orphanet Journal of Rare Diseases.
E. Rings,
D. Reijngoud,
M. D. De Vries,
2010,
Journal of Inherited Metabolic Disease.
M. Heiner-Fokkema,
F. V. van Spronsen,
P. de Blaauw,
2020,
Nutrients.
S. Huijbregts,
F. V. van Spronsen,
Willem G. van Ginkel,
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Advances in experimental medicine and biology.
H. Maurice‐Stam,
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F. Wijburg,
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Journal of Inherited Metabolic Disease.
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A. Bassett,
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Psychological Medicine.
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Molecular genetics and metabolism.
C. Hollak,
L. D. de Sonneville,
S. Huijbregts,
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Molecular genetics and metabolism.
A. Das,
F. V. van Spronsen,
U. Meyer,
2017,
Advances in experimental medicine and biology.
T. Coşkun,
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Orphanet Journal of Rare Diseases.
M. W. van der Molen,
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Journal of Inherited Metabolic Disease.
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Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.
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Journal of the American Dietetic Association.
C. Hollak,
L. D. de Sonneville,
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Molecular genetics and metabolism.
M. Heiner-Fokkema,
M. D. De Vries,
F. V. van Spronsen,
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Molecular genetics and metabolism.
T. Derks,
B. C. Teixeira,
C. Dutra-filho,
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Molecular genetics and metabolism reports.
J. Sergeant,
L. D. de Sonneville,
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Developmental neuropsychology.
M. Heiner-Fokkema,
F. V. van Spronsen,
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Orphanet Journal of Rare Diseases.
F. V. van Spronsen,
C. Dionisi Vici,
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Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.
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Neuropsychology.
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Nutrients.
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JIMD reports.
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Orphanet Journal of Rare Diseases.
H. Maurice‐Stam,
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Molecular genetics and metabolism.
Newborn screening for primary carnitine deficiency: who will benefit? – a retrospective cohort study
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Journal of Medical Genetics.
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Orphanet Journal of Rare Diseases.
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PloS one.
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Front. Neurol..
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Orphanet Journal of Rare Diseases.
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International journal of neonatal screening.
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Molecular genetics and metabolism.
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Journal of Neurology, Neurosurgery, and Psychiatry.
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Molecular genetics and metabolism.
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JIMD reports.
Y. Wada,
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The New England journal of medicine.
M. Heiner-Fokkema,
J. Zsiros,
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International Journal of Neonatal Screening.
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M. Span,
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European Journal of Pediatrics.
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bioRxiv.
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Journal of inherited metabolic disease.
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Nutrients.