Search Results - "WEVERS, R. A"

Genotype-Specific Differences in the Tumor Metabolite Profile of Pheochromocytoma and Paraganglioma Using Untargeted and Targeted Metabolomics by Rao, J. U, Engelke, U. F. H, Sweep, F. C. G. J, Pacak, K, Kusters, B, Goudswaard, A. G, Hermus, A. R. M. M, Mensenkamp, A. R, Eisenhofer, G, Qin, N, Richter, S, Kunst, H. P. M, Timmers, H. J. L. M, Wevers, R. A

“…Context and Objective: Pheochromocytomas and paragangliomas (PGLs) are neuroendocrine tumors of sympathetic or parasympathetic paraganglia. Nearly 40% of PGLs…”
Get full text

Early life adversity and serotonin transporter gene variation interact at the level of the adrenal gland to affect the adult hypothalamo-pituitary-adrenal axis by van der Doelen, R H A, Deschamps, W, D'Annibale, C, Peeters, D, Wevers, R A, Zelena, D, Homberg, J R, Kozicz, T

“…The short allelic variant of the serotonin transporter (5-HTT) promoter-linked polymorphic region (5-HTTLPR) has been associated with the etiology of major…”
Get full text

Adipose tissue thickness affects in vivo quantitative near-IR spectroscopy in human skeletal muscle by van Beekvelt, M C, Borghuis, M S, van Engelen, B G, Wevers, R A, Colier, W N

“…The influence of adipose tissue thickness (ATT) on near-IR spectroscopy (NIRS) measurements in vivo was studied in the human flexor digitorum superficialis…”
Get more information

Mevalonate kinase deficiency: Evidence for a phenotypic continuum by SIMON, A, KREMER, H. P. H, WEVERS, R. A, SCHEFFER, H, DE JONG, J. G, VAN DER MEER, J. W. M, DRENTH, J. P. H

“…Both mevalonic aciduria, characterized by psychomotor retardation, cerebellar ataxia, recurrent fever attacks, and death in early childhood, and…”
Get full text

Ophthalmological abnormalities in children with congenital disorders of glycosylation type I by Morava, E, Wosik, H N, Sykut-Cegielska, J, Adamowicz, M, Guillard, M, Wevers, R A, Lefeber, D J, Cruysberg, J R M

“…Children with congenital disorders of glycosylation (CDG) type Ia frequently present with ocular involvement and visual loss. Little is known, however, about…”
Get more information

Identification of Pseudomonas aeruginosa and Aspergillus fumigatus mono- and co-cultures based on volatile biomarker combinations by Neerincx, A H, Geurts, B P, Habets, M F J, Booij, J A, van Loon, J, Jansen, J J, Buydens, L M C, van Ingen, J, Mouton, J W, Harren, F J M, Wevers, R A, Merkus, P J F M, Cristescu, S M, Kluijtmans, L A J

“…Volatile organic compound (VOC) analysis in exhaled breath is proposed as a non-invasive method to detect respiratory infections in cystic fibrosis patients…”
Get more information

3-Methylglutaconic aciduria type I redefined: A syndrome with late-onset leukoencephalopathy by WORTMANN, S. B, KREMER, B. H, WILCKEN, B, CRUYSBERG, J. R, DAS, A. M, MORAVA, E, WEVERS, R. A, GRAHAM, A, WILLEMSEN, M. A, LOUPATTY, F. J, HOGG, S. L, ENGELKE, U. F, KLUIJTMANS, L. A, WANDERS, R. J, ILLSINGER, S

“…3-Methylglutaconic aciduria type I is a rare inborn error of leucine catabolism. It is thought to present in childhood with nonspecific symptoms; it was even…”
Get full text

Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency by SCHILLER, A, WEVERS, R. A, STEENBERGEN, G. C. H, BLAU, N, JUNG, H. H

“…The authors report the long-term course of two siblings with L-dopa responsive dystonia (DRD) associated with a compound heterozygous mutation in the tyrosine…”
Get full text

Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model by Binkhorst, M., Wortmann, S. B., Funke, S., Kozicz, T., Wevers, R. A., Morava, E.

“…Fetal alcohol spectrum disorder (FASD) is an umbrella term used to describe the craniofacial dysmorphic features, malformations, and disturbances in growth,…”
Get full text

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? by ORNGREEN, M. C, SCHELHAAS, H. J, JEPPESEN, T. D, AKMAN, H. O, WEVERS, R. A, ANDERSEN, S. T, TER LAAK, H. J, VAN DIGGELEN, O. P, DIMAURO, S, VISSING, J

“…It is unclear to what extent muscle phosphorylase b kinase (PHK) deficiency is associated with exercise-related symptoms and impaired muscle metabolism,…”
Get full text

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases by MOCHEL, F, ENGELKE, U. F. H, SEGUIN, F, WEVERS, R. A, SCHIFFMANN, R, BARRITAULT, J, YANG, B, MCNEILL, N. H, THOMPSON, J. N, VANDERVER, A, WOLF, N. I, WILLEMSEN, M. A, VERHEIJEN, F. W

“…To investigate body fluids of patients with undiagnosed leukodystrophies using in vitro (1)H-NMR spectroscopy (H-NMRS). We conducted a cross-sectional study…”
Get full text

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA) by Mochel, F., Sedel, F., Vanderver, A., Engelke, U. F. H., Barritault, J., Yang, B. Z., Kulkarni, B., Adams, D. R., Clot, F., Ding, J. H., Kaneski, C. R., Verheijen, F. W., Smits, B. W., Seguin, F., Brice, A., Vanier, M. T., Huizing, M., Schiffmann, R., Durr, A., Wevers, R. A.

“…In order to identify new metabolic abnormalities in patients with complex neurodegenerative disorders of unknown aetiology, we performed high resolution in…”
Get full text

Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism by Moolenaar, S H, Engelke, U F H, Wevers, R A

“…Proton nuclear magnetic resonance (NMR) spectroscopy of body fluids has been successfully applied to the field of inborn errors of metabolism. This technique…”
Get more information

Substrate deprivation therapy in juvenile Sandhoff disease by Wortmann, S. B., Lefeber, D. J., Dekomien, G., Willemsen, M. A. A. P., Wevers, R. A., Morava, E.

“…Summary Substrate deprivation therapy has been successfully applied in a number of lysosomal storage diseases, such as Gaucher disease. So far only limited…”
Get full text

Dopa-responsive dystonia: a clinical and molecular genetic study by Bandmann, O, Valente, E M, Holmans, P, Surtees, R A, Walters, J H, Wevers, R A, Marsden, C D, Wood, N W

“…We have studied the GTP-cyclohydrolase 1 (GCH-1) gene in 30 patients with the diagnosis of clinically definite (n = 20) or possible (n = 10) dopa-responsive…”
Get more information

Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps by Morava, É., Wosik, H., Kárteszi, J., Guillard, M., Adamowicz, M., Sykut-Cegielska, J., Hadzsiev, K., Wevers, R. A., Lefeber, D. J.

“…Summary Congenital disorder of glycosylation type I (CDG I) represent a rapidly growing group of inherited multisystem disorders with 13 genetically…”
Get full text

Decreased bone density and treatment in patients with autosomal recessive cutis laxa by Noordam, C, Funke, S, Knoers, NV, Jira, P, Wevers, RA, Urban, Z, Morava, E

“…Aim: Due to the occasional association pathological fractures and osteoporosis we evaluated four patients with cutis laxa syndrome for skeletal anomalies…”
Get full text

Clinical and biochemical presentation of siblings with COG‐7 deficiency, a lethal multiple O‐ and N‐glycosylation disorder by Spaapen, L. J. M., Bakker, J. A., der Meer, S. B., Sijstermans, H. J., Steet, R. A., Wevers, R. A., Jaeken, J.

“…Summary Congenital disorders of glycosylation (CDG) represent a group of inherited multiorgan diseases caused by defects in the biosynthesis of glycoproteins…”
Get full text

Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF by WOLF, N. I, WILLEMSEN, M. A. A. P, ENGELKE, U. F, VAN DER KNAAP, M. S, POUWELS, P. J. W, HARTING, I, ZSCHOCKE, J, SISTERMANS, E. A, RATING, D, WEVERS, R. A

“…Two unrelated girls had early onset of nystagmus and epilepsy, absent psychomotor development, and almost complete absence of myelin on cerebral MRI. The…”
Get full text

Meningoencephalitis caused by Streptococcus pneumoniae: a diagnostic and therapeutic challenge : Diagnosis with diffusion-weighted MRI leading to treatment with corticosteroids by JORENS, Philippe G, PARIZEL, Paul M, DEMEY, Hendrik E, SMETS, Katrien, JADOUL, Kris, VERBEEK, M. M, WEVERS, R. A, CRAS, Patrick

“…Streptococcus pneumoniae is a common cause of bacterial meningitis but only rarely causes other infections such as brain abscess, encephalitis,…”
Get full text