Biomedical

Fatal cerebral edema associated with serine deficiency in CSF

Type of publication: 
Matching Publication
Authors: 
I.M. Keularts, P.L. Leroy, E.M. Rubio-Gozalbo, L.J. Spaapen, B. Weber, B. Dorland, T.J. de Koning, N.M. Verhoeven-Duif
Authors from the NMC: 
Published in: 
Journal of Inherited Metabolic Disease
Date of publication: 
2010/03
Status of the publication: 
Published/accepted
Theme: 
Theme: 
Pages: 
2010; 33 Suppl 3:181-185
DOI: 
10.1007/s10545-010-9067-9

Phase II metabolism of hesperetin by individual UDP-glucuronosyltransferases and sulfotransferases and rat and human tissue samples

Type of publication: 
Matching Publication
Authors: 
W. Brand, M.G. Boersma, H. Bik, E.F. Hoek-van den Hil, J.J.M. Vervoort, D. Barron, W. Meinl, H. Glatt, G. Williamson, P.J. van Bladeren, I.M. Rietjens
Authors from the NMC: 
Published in: 
Drug Metabolism & Disposition
Date of publication: 
2010/01
Status of the publication: 
Published/accepted
Theme: 
Theme: 
Pages: 
2010; 38 (4): 617-625
DOI: 
10.1124/dmd.109.031047

Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients

Type of publication: 
Matching Publication
Authors: 
M. Aldenhoven, T.J. de Koning, F.W. Verheijen, B.H. Prinsen, F.A. Wijburg, A.T. van der Ploeg, M.G. de Sain-van der Velden, J. Boelens
Authors from the NMC: 
Published in: 
Biology of Blood and Marrow Transportation
Date of publication: 
2010/05
Status of the publication: 
Published/accepted
Theme: 

Hurler syndrome (HS), the most severe phenotype in the spectrum of mucopolysaccharidosis type I, is caused by a deficiency of the lysosomal enzyme alpha-L-iduronidase (IDUA).

Theme: 
Pages: 
2010; 16 (5): 701-704
DOI: 
10.1016/j.bbmt.2010.01.006

Liver disease associated with canalicular transport defects: current and future therapies

Type of publication: 
Matching Publication
Authors: 
J.M. Stapelbroek, K.J. van Erpecum, L.W. Klomp, R.H. Houwen
Published in: 
Journal of Hepatology
Date of publication: 
2010/02
Status of the publication: 
Published/accepted
Theme: 
Theme: 
Pages: 
2010; 52 (2): 258-271
DOI: 
10.1016/j.jhep.2009.11.012

Serum insulin-like growth factor-binding protein-2 levels and metabolic and cardiovascular risk factors in young adults and children born small for gestational age

Type of publication: 
Matching Publication
Authors: 
S.W. de Kort, J. van Doorn, A.G. van de Sande, R.W. Leunissen, A.C. Hokken-Koelega
Published in: 
Journal of Clinical Endocrinology & Metabolism
Date of publication: 
2010/02
Status of the publication: 
Published/accepted
Theme: 
Theme: 
Pages: 
2010; 95 (2): 864-871
DOI: 
10.1210/jc.2009-1508

Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate

Type of publication: 
Matching Publication
Authors: 
L.M. van der Velden, J.M. Stapelbroek, E. Krieger, P.V. van den Berghe, R. Berger, P.M. Verhulst, J.C. Holthuis, R.H. Houwen, L.W. Klomp, S.F. van de Graaf
Authors from the NMC: 
Published in: 
Hepatology
Date of publication: 
2010/01
Status of the publication: 
Published/accepted
Theme: 
Theme: 
Pages: 
2010; 51 (1): 286-296
DOI: 
10.1002/hep.23268

Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics

Type of publication: 
Matching Publication
Authors: 
L. Tabatabaie, T.J. de Koning, A.J. Geboers, I.E. van den Berg, R. Berger, L.W. Klomp
Authors from the NMC: 
Published in: 
Human Mutation
Date of publication: 
2009/05
Status of the publication: 
Published/accepted
Theme: 

Three-phosphoglycerate dehydrogenase (3-PGDH) deficiency is a rare recessive inborn error in the biosynthesis of the amino acid L-serine characterized clinically by congenital microcephaly, psychomotor retardation, and intractable seizures. The biochemical abnormalities associated with this disorder are low concentrations of L-serine, D-serine, and glycine in cerebrospinal fluid (CSF).

Theme: 
Pages: 
2009; 30 (5): 749-756
DOI: 
10.1002/humu.20934

Expression of insulin-like growth factor system components in colorectal tissue and its relation with serum IGF levels

Type of publication: 
Matching Publication
Authors: 
A. Vrieling, D.W. Voskuil, A. Bosma, D.M. Majoor, J. van Doorn, A. Cats, A.C. Depla, R. Timmer, B.J. Witteman, J. Wesseling, E. Kampman, L.J. van 't Veer
Published in: 
Growth Hormone & IGF Research
Date of publication: 
2009/04
Status of the publication: 
Published/accepted
Theme: 

CONTEXT:

The insulin-like growth factor (IGF)-system has been implicated in colorectal tumor carcinogenesis. Although both tumor expression levels and serum concentrations of IGF-system components are related to colorectal cancer risk, it is unknown whether IGF levels in tissue and serum are correlated.

Theme: 
Pages: 
2009; 19 (2): 126-135
DOI: 
10.1016/j.ghir.2008.08.004

Phosphorylation of Not4p functions parallel to BUR2 to regulate resistance to cellular stresses in Saccharomyces cerevisiae

Type of publication: 
Matching Publication
Authors: 
N.C. Lau, K.W. Mulder, A.B. Brenkman, S. Mohammed, N.J. van den Broek, A.J. Heck, H.T. Timmers
Authors from the NMC: 
Published in: 
PLoS One
Date of publication: 
2010/04
Status of the publication: 
Published/accepted
Theme: 

BACKGROUND:

The evolutionarily conserved Ccr4-Not and Bur1/2 kinase complexes are functionally related in Saccharomyces cerevisiae. In this study, we further explore the relationship between the subunits Not4p and Bur2p.

Theme: 
Pages: 
2010; 5 (4): e9864
DOI: 
10.1371/journal.pone.0009864

Impaired body weight and tail length gain and altered bone quality after treatment with the aromatase inhibitor exemestane in male rats

Type of publication: 
Matching Publication
Authors: 
S.A. van Gool, J.M. Wit, T. de Schutter, N. de Clerck, A.A. Postnov, S. Kremer Hovinga, J. van Doorn, S.J. Veiga, L.M. Garcia-Segura, M. Karperien
Published in: 
Hormone Research in Paediatrics
Date of publication: 
2010/04
Status of the publication: 
Published/accepted
Theme: 

Background:

Estrogen deficiency induced by aromatase inhibitors may be a novel treatment modality for growth enhancement in short children, but may have adverse effects on bone, brain and reproduction.

Aim:

To assess growth effects and potential adverse effects of aromatase inhibition in male rats.

Theme: 
Pages: 
2010; 73 (5): 376-385
DOI: 
10.1159/000308171