C. Jakobs
发表
U. Engelke,
L. Kluijtmans,
R. Wevers,
2010,
Biochimica et biophysica acta.
W. Kanhai,
G. Salomons,
Joseph D. T. Ndika,
2014,
Biochimica et biophysica acta.
A. Pop,
G. Salomons,
E. Rosenberg,
2012,
Molecular genetics and metabolism.
K. de Meer,
W. van Dijk,
C. Jakobs,
2003,
Glycoconjugate Journal.
J. Jaeken,
C. Koeleman,
W. van Dijk,
2001
.
C. Ince,
N. Verhoeven,
E. Struys,
2004,
Cardiovascular research.
Charles E. Schwartz,
Roger E. Stevenson,
R. Stevenson,
2006,
Human Genetics.
N. Matsumoto,
H. Osaka,
H. Saitsu,
2012,
Molecular genetics and metabolism.
C. Schwartz,
T. Degrauw,
T. Kleefstra,
2007,
Human mutation.
M. L. Cardoso,
L. Vilarinho,
N. Verhoeven,
2004,
Molecular genetics and metabolism.
B. Maranda,
J. Abdenur,
S. Korman,
2010,
Human mutation.
H. Lehrach,
A. Soldatov,
M. Ralser,
2011,
Antioxidants & redox signaling.
New insights into creatine transporter deficiency: the importance of recycling creatine in the brain
G. Salomons,
C. Jakobs,
K. Gibson,
2013,
Journal of Inherited Metabolic Disease.
R. Surtees,
O. Bodamer,
S. Stöckler‐Ipsiroglu,
2002,
Clinical chemistry.
A. Ribes,
R. Artuch,
P. Póo-Argüelles,
2006,
Journal of Inherited Metabolic Disease.
L. Vilarinho,
G. Salomons,
E. Rosenberg,
2007,
Molecular genetics and metabolism.
D. Cheillan,
C. Vianey‐Saban,
C. Jakobs,
2004,
Clinical chemistry.
T. Degrauw,
G. Salomons,
E. Rosenberg,
2006,
Journal of Inherited Metabolic Disease.
J. Barkovich,
M. Wirt,
G. Salomons,
2012,
Molecular genetics and metabolism.
P. Pouwels,
G. Sinclair,
S. Stockler,
2012,
Molecular genetics and metabolism.
M. L. Cardoso,
L. Vilarinho,
P. Domingues,
2004,
Clinica chimica acta; international journal of clinical chemistry.
D. Turnbull,
R. Appleton,
D. Isherwood,
2007,
Journal of Inherited Metabolic Disease.
R. Battini,
S. Stöckler‐Ipsiroglu,
N. Verhoeven,
2003,
Clinical chemistry.
A. Munnich,
C. Schwartz,
P. Pouwels,
2013,
Journal of Medical Genetics.
C. Yalçınkaya,
K. Gibson,
P. Pearl,
2004,
Clinical Neurophysiology.
C. Jakobs,
X. Wang,
D. V. Bawle,
2003,
Journal of Inherited Metabolic Disease.
R. Hegele,
Y. Chien,
W. Hwu,
2009,
Molecular genetics and metabolism.
L. Vilarinho,
N. Verhoeven,
G. Salomons,
2006,
Molecular genetics and metabolism.
P. Scheltens,
N. Schoonenboom,
N. Verhoeven,
2005,
Neuroscience Letters.
D. Rating,
J. Zschocke,
G. Hoffmann,
2018,
Brain : a journal of neurology.
A. Tylki-Szymańska,
C. Fung,
V. Valayannopoulos,
2012,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
A. Tylki-Szymańska,
G. Salomons,
M. Wamelink,
2009,
Molecular genetics and metabolism.
E. Struys,
M. Wamelink,
C. Jakobs,
2008,
Journal of Inherited Metabolic Disease.
H. Blom,
U. Engelke,
R. Wevers,
2008,
Human mutation.
N. Verhoeven,
E. Struys,
E. Jansen,
2007,
Journal of Inherited Metabolic Disease.
G. Peters,
M. Fukushima,
F. Kruyt,
2010,
Biochemical pharmacology.
B. Slotman,
T. K. van den Berg,
F. Kruyt,
2003,
British Journal of Cancer.
J. Sass,
I. Knerr,
A. Rauch,
2006,
Molecular genetics and metabolism.
C. Peeters-Scholte,
E. Struys,
N. van der Stoep,
2014,
Molecular genetics and metabolism reports.
A. Amorim,
F. Santorelli,
M. L. Cardoso,
2005,
Human mutation.
Axel Kowald,
Edda Klipp,
Hans Lehrach,
2007,
Journal of biology.
M. Tekin,
N. Blau,
B. Thöny,
2011,
Molecular genetics and metabolism.
L. Diogo,
P. Garcia,
E. Struys,
2013,
Epileptic disorders : international epilepsy journal with videotape.
H. Blom,
T. Vilboux,
E. Levtchenko,
2011,
Molecular genetics and metabolism.
L. Garosi,
C. Jakobs,
A. de Lahunta,
2003,
Journal of veterinary internal medicine.
S. Houterman,
M. Willemsen,
L. Bok,
2012,
Journal of Inherited Metabolic Disease.
K. Gibson,
E. Struys,
E. Jansen,
2005,
Journal of Inherited Metabolic Disease.
K. Gibson,
D. Gavrilov,
G. Hoganson,
2007,
Journal of Inherited Metabolic Disease.
T. Obata,
H. Osaka,
K. Kurosawa,
2010,
Journal of Inherited Metabolic Disease.
J. Miyazaki,
Tetsurou Yamamoto,
I. Matsuda,
1997,
The Journal of Biological Chemistry.
K. Gibson,
S. Kölker,
J. Okun,
2007,
Neurochemistry International.
K. Gibson,
N. Verhoeven,
E. Struys,
2005,
Journal of Inherited Metabolic Disease.
Hans Lehrach,
Markus Ralser,
H. Lehrach,
2009,
Nature Biotechnology.
R. Castro,
Madalena Barroso,
I. Rivera,
2012,
Amino Acids.
Robert Kleta,
Bernd Wollnik,
G. Usala,
2007,
American journal of human genetics.
H. Lehrach,
S. Krobitsch,
M. Ralser,
2008,
Proceedings of the National Academy of Sciences.
F. Barkhof,
C. Polman,
B. Uitdehaag,
2007,
Journal of Neurology.
W. Kanhai,
G. Salomons,
Joseph D. T. Ndika,
2014,
Gene.
Nathalie Boddaert,
Arnold Munnich,
A. Munnich,
2012,
Journal of Inherited Metabolic Disease.
P. Pouwels,
M. Knaap,
G. Mancini,
2008,
neurogenetics.
D. Knol,
F. Aarsen,
P. Pouwels,
2011,
Journal of Inherited Metabolic Disease.
An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study
D. Zafeiriou,
J. Celli,
J. D. den Dunnen,
2010,
Human mutation.
Pyruvate Kinase Triggers a Metabolic Feedback Loop that Controls Redox Metabolism in Respiring Cells
H. Lehrach,
M. Ralser,
M. Rinnerthaler,
2011,
Cell metabolism.
M. Knaap,
K. Gibson,
S. Korman,
2009,
Journal of Inherited Metabolic Disease.
K. Gibson,
E. Struys,
G. Salomons,
2009,
Journal of Inherited Metabolic Disease.
N. Verhoeven,
M. Wamelink,
C. Jakobs,
2005,
Journal of Inherited Metabolic Disease.
V. Valayannopoulos,
M. Wamelink,
C. Jakobs,
2014
.
M. Gonzalès,
J. Saudubray,
E. Struys,
2008,
Prenatal Diagnosis.
P. Waters,
B. Plecko,
S. Stockler-Ipsiroglu,
2009,
Molecular genetics and metabolism.
G. Salomons,
M. Wamelink,
C. Jakobs,
2012
.
V. Valayannopoulos,
M. Wamelink,
C. Jakobs,
2012
.
M. Burch,
M. Dixon,
G. Salomons,
2010,
Journal of Inherited Metabolic Disease.
William S. Ball,
W. Ball,
T. Degrauw,
2001,
American journal of human genetics.
M. Schapiro,
T. Degrauw,
K. Cecil,
2002,
Neuropediatrics.
P. Vreken,
M. Durán,
E. Holme,
1999,
Human Genetics.
J. Constans,
N. Verhoeven,
C. Jakobs,
2005,
Journal of Inherited Metabolic Disease.
M. Born,
R. Rzem,
M. Veiga-da-Cunha,
2006
.
S. D. Jong,
C. Pérez-Cerdá,
M. Ugarte,
2010,
Journal of Inherited Metabolic Disease.
H. Lehrach,
M. Ralser,
E. Struys,
2009
.
Hans Lehrach,
Markus Ralser,
H. Lehrach,
2010,
Journal of Molecular Medicine.
N. Verhoeven,
E. Struys,
C. Jakobs,
2002,
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.
M. Knaap,
M. S. van der Knaap,
N. Verhoeven,
2001,
American journal of human genetics.
O. Snead,
G. Barceló-Coblijn,
K. Gibson,
2007,
Biochimica et biophysica acta.
B. Thöny,
C. Jakobs,
D. Rokicki,
2009,
Journal of Inherited Metabolic Disease.
H. Lehrach,
S. Krobitsch,
M. Ralser,
2008,
Proceedings of the National Academy of Sciences.
E. Van Obberghen,
C. Jakobs,
G. Salomons,
2004,
Molecular genetics and metabolism.
W. Kanhai,
G. Salomons,
Joseph D. T. Ndika,
2014,
Biochimica et biophysica acta.
G. Salomons,
C. Jakobs,
G. I. Escalera,
2010,
Anales de pediatria.
O. Hardiman,
M. King,
G. Salomons,
2009,
Journal of Neurology.
M. Knaap,
K. Gibson,
G. Salomons,
2009,
Journal of Inherited Metabolic Disease.