SSIEM reflections 2004–2010: the growing stature of our society

door Jakobs, Cornelis
Gepubliceerd in 2010

Introduction to the Komrower Memorial Lecture 2010

door Jakobs, Cornelis
Gepubliceerd in 2011

Neuropsychiatric Morbidity in Adolescent and Adult Succinic Semialdehyde Dehydrogenase Deficiency Patients

door Knerr, Ina, Gibson, K. Michael, Jakobs, Cornelis, Pearl, Phillip L.
Gepubliceerd in 2008

Roth spots in pyridoxine dependent epilepsy

door Bok, Levinus A, Halbertsma, Feico, Kerkhoff, Frank, Jakobs, Cornelis, Duijsters, Carola, Willemsen, Michèl
Gepubliceerd in 2011

Progress in understanding 2-hydroxyglutaric acidurias

door Kranendijk, Martijn, Struys, Eduard A., Salomons, Gajja S., Van der Knaap, Marjo S., Jakobs, Cornelis
Gepubliceerd in 2012

Epilepsy in Succinic Semialdehyde Dehydrogenase Deficiency, a Disorder of GABA Metabolism

door Pearl, Phillip L., Shukla, Lovy, Theodore, William H., Jakobs, Cornelis, Gibson, K. Michael
Gepubliceerd in Brain Dev (2011)

Pyridoxine‐dependent seizures in Dutch patients: diagnosis by elevated urinary alpha‐aminoadipic semialdehyde levels

door Bok, Levinus A, Struys, Eduard, Willemsen, Michel A A P, Been, Jasper V, Jakobs, Cornelis
Gepubliceerd in 2007

Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development

door Jansen, Erwin EW, Struys, Eduard, Jakobs, Cornelis, Hager, Elizabeth, Snead, O Carter, Gibson, K Michael
Gepubliceerd in 2008

The measurement of urinary Δ(1)-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency

door Struys, Eduard A., Bok, Levinus A., Emal, Dina, Houterman, Saskia, Willemsen, Michel A., Jakobs, Cornelis
Gepubliceerd in 2012

Comments on ‘Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures’ in Molecular Genetics and Metabolism' 2014 Mar;111(3):404-7 b...

door van der Stoep, Nienke, Onkenhout, Willem, Prins, Sandra, Struys, Eduard, Jakobs, Cornelis, Peeters-Scholte, Cacha
Gepubliceerd in Mol Genet Metab Rep (2014)

A catabolic block does not sufficiently explain how 2-deoxy-d-glucose inhibits cell growth

door Ralser, Markus, Wamelink, Mirjam M., Struys, Eduard A., Joppich, Christian, Krobitsch, Sylvia, Jakobs, Cornelis, Lehrach, Hans
Gepubliceerd in 2008

Neuropathology in Succinic Semialdehyde Dehydrogenase Deficiency

door Knerr, Ina, Gibson, K. Michael, Murdoch, Geoffrey, Salomons, Gajja S., Jakobs, Cornelis, Combs, Susan, Pearl, Phillip L.
Gepubliceerd in 2010

Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy

door Huck, Jojanneke H. J., Verhoeven, Nanda M., Struys, Eduard A., Salomons, Gajja S., Jakobs, Cornelis, van der Knaap, Marjo S.
Gepubliceerd in 2004

Succinic Semialdehyde Dehydrogenase: Biochemical–Molecular–Clinical Disease Mechanisms, Redox Regulation, and Functional Significance

door Kim, Kyung-Jin, Pearl, Phillip L., Jensen, Kimmo, Snead, O. Carter, Malaspina, Patrizia, Jakobs, Cornelis, Gibson, K. Michael
Gepubliceerd in 2011

Thirty Years Beyond Discovery—Clinical Trials in Succinic Semialdehyde Dehydrogenase Deficiency, a Disorder of GABA Metabolism

door Vogel, Kara R., Pearl, Phillip L., Theodore, William H., McCarter, Robert C., Jakobs, Cornelis, Gibson, K. Michael
Gepubliceerd in J Inherit Metab Dis (2012)

Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors

door Kubo, Shuji, Sun, Maosen, Miyahara, Michio, Umeyama, Kazuhiro, Urakami, Ken-ichi, Yamamoto, Tetsuro, Jakobs, Cornelis, Matsuda, Ichiro, Endo, Fumio
Gepubliceerd in 1998

Familial 6p22.2 Duplication Associates with Mild Developmental Delay and Increased SSADH Activity

door Siggberg, Linda, Mustonen, Aki, Schuit, Robert, Salomons, Gajja S, Roos, Birthe, Gibson, K. Michael, Jakobs, Cornelis, Ignatius, Jaakko, Knuutila, Sakari
Gepubliceerd in 2011

Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

door Struys, Eduard A., Salomons, Gajja S., Achouri, Younes, Van Schaftingen, Emile, Grosso, Salvatore, Craigen, William J., Verhoeven, Nanda M., Jakobs, Cornelis
Gepubliceerd in 2005

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

door Salomons, Gajja S., van Dooren, Silvy J. M., Verhoeven, Nanda M., Cecil, Kim M., Ball, William S., Degrauw, Ton J., Jakobs, Cornelis
Gepubliceerd in 2001

Pyruvate Kinase Triggers a Metabolic Feedback Loop that Controls Redox Metabolism in Respiring Cells

door Grüning, Nana-Maria, Rinnerthaler, Mark, Bluemlein, Katharina, Mülleder, Michael, Wamelink, Mirjam M.C., Lehrach, Hans, Jakobs, Cornelis, Breitenbach, Michael, Ralser, Markus
Gepubliceerd in 2011