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Huppke–Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N‐acetylcysteine.
Published in:
Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 6, p. 361, doi. 10.1002/jmd2.12439
By:
- Šikić, Katarina;
- Peters, Tessa M. A.;
- Engelke, Udo;
- Petković Ramadža, Danijela;
- Žigman, Tamara;
- Fumić, Ksenija;
- Davidović, Maša;
- Huljev Frković, Sanda;
- Körmendy, Tibor;
- Martinelli, Diego;
- Novelli, Antonio;
- Lepri, Francesca Romana;
- Wevers, Ron A.;
- Barić, Ivo
Publication type:
Article
Myo-inositol, glucose and zinc status as risk factors for non-syndromic cleft lip with or without cleft palate in offspring: a case–control study.
Published in:
BJOG: An International Journal of Obstetrics & Gynaecology, 2004, v. 111, n. 7, p. 661, doi. 10.1111/j.1471-0528.2004.00171.x
By:
- Krapels, Ingrid P. C.;
- Van Rooij, Iris A. L. M.;
- Wevers, Ron A.;
- Zielhuis, Gerhard A.;
- Spauwen, Paul H. M.;
- Brussel, Wim;
- Steegers-Theunissen, Régine P. M.
Publication type:
Article
Peripheral decarboxylase inhibitors paradoxically induce aromatic L-amino acid decarboxylase.
Published in:
NPJ Parkinson's Disease, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41531-021-00172-z
By:
- van Rumund, Anouke;
- Pavelka, Lukas;
- Esselink, Rianne A. J.;
- Geurtz, Ben P. M.;
- Wevers, Ron A.;
- Mollenhauer, Brit;
- Krüger, Rejko;
- Bloem, Bastiaan R.;
- Verbeek, Marcel M.
Publication type:
Article
Isocitrate dehydrogenase 1-mutated cancers are sensitive to the green tea polyphenol epigallocatechin-3-gallate.
Published in:
Cancer & Metabolism, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40170-019-0198-7
By:
- Peeters, Tom H.;
- Lenting, Krissie;
- Breukels, Vincent;
- van Lith, Sanne A. M.;
- van den Heuvel, Corina N. A. M.;
- Molenaar, Remco;
- van Rooij, Arno;
- Wevers, Ron;
- Span, Paul N.;
- Heerschap, Arend;
- Leenders, William P. J.
Publication type:
Article
CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans.
Published in:
2006
By:
- Albahri, Ziad;
- Marklová, Eliška;
- Dědek, Petr;
- Hojdíková, Helena;
- Fiedler, Zdeněk;
- Lefeber, Dirk;
- Wevers, Ron A;
- Morava, Eva;
- Wopereis, Suzan;
- Marklová, Eliska;
- Dedek, Petr;
- Hojdíková, Helena;
- Fiedler, Zdenek
Publication type:
journal article
Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency.
Published in:
2000
By:
- de Koning, Tom J;
- Duran, Marinus;
- Dorland, Lambertus;
- Jakobs, Cornelis;
- Wevers, Ron A;
- Berger, Ruud;
- Poll-The, Bwee-Tien;
- de Koning, T J;
- Duran, M;
- Dorland, L;
- Jakobs, C;
- Wevers, R A;
- Berger, R;
- Poll-The, B T
Publication type:
Case Study
Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).
Published in:
Frontiers in Human Neuroscience, 2013, v. 7, p. 1, doi. 10.3389/fnhum.2013.00858
By:
- Spilioti, Martha;
- Evangeliou, Athanasios E.;
- Tramma, Despoina;
- Theodoridou, Zoe;
- Metaxas, Spyridon;
- Michailidi, Eleni;
- Bonti, Eleni;
- Frysira, Helen;
- Haidopoulou, A.;
- Asprangathou, Despoina;
- Tsalkidis, Aggelos J.;
- Kardaras, Panagiotis;
- Wevers, Ron A.;
- Jakobs, Cornelis;
- Gibson, K. Michael
Publication type:
Article
Single Point Mutation in Rabenosyn-5 in a Female with Intractable Seizures and Evidence of Defective Endocytotic Trafficking.
Published in:
2014
By:
- Stockler, Sylvia;
- Corvera, Silvia;
- Lambright, David;
- Fogarty, Kevin;
- Nosova, Ekaterina;
- Leonard, Deborah;
- Steinfeld, Robert;
- Ackerley, Cameron;
- Shyr, Casper;
- Au, Nicolas;
- Selby, Kathrin;
- Van Allen, Margot;
- Vallance, Hilary;
- Wevers, Ron;
- Watkins, David;
- Rosenblatt, David;
- Ross, Colin J.;
- Conibear, Elizabeth;
- Wasserman, Wyeth;
- Karnebeek, Clara van
Publication type:
Case Study
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.
Published in:
2014
By:
- Stockler, Sylvia;
- Corvera, Silvia;
- Lambright, David;
- Fogarty, Kevin;
- Nosova, Ekaterina;
- Leonard, Deborah;
- Steinfeld, Robert;
- Ackerley, Cameron;
- Shyr, Casper;
- Au, Nicolas;
- Selby, Kathrin;
- van Allen, Margot;
- Vallance, Hilary;
- Wevers, Ron;
- Watkins, David;
- Rosenblatt, David;
- Ross, Colin J;
- Conibear, Elizabeth;
- Wasserman, Wyeth;
- van Karnebeek, Clara
Publication type:
journal article
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Published in:
2022
By:
- Sumathipala, Dulika;
- Strømme, Petter;
- Fattahi, Zohreh;
- Lüders, Torben;
- Sheng, Ying;
- Kahrizi, Kimia;
- Einarsen, Ingunn Holm;
- Sloan, Jennifer L;
- Najmabadi, Hossein;
- van den Heuvel, Lambert;
- Wevers, Ron A;
- Guerrero-Castillo, Sergio;
- Mørkrid, Lars;
- Valayannopoulos, Vassili;
- Backe, Paul Hoff;
- Venditti, Charles P;
- Karnebeek, Clara D van;
- Nilsen, Hilde;
- Frengen, Eirik;
- Misceo, Doriana
Publication type:
journal article
CAD mutations and uridine-responsive epileptic encephalopathy.
Published in:
2017
By:
- Koch, Johannes;
- Mayr, Johannes A.;
- Alhaddad, Bader;
- Rauscher, Christian;
- Bierau, Jörgen;
- Kovacs-Nagy, Reka;
- Coene, Karlien L. M.;
- Bader, Ingrid;
- Holzhacker, Monika;
- Prokisch, Holger;
- Venselaar, Hanka;
- Wevers, Ron A.;
- Distelmaier, Felix;
- Polster, Tilman;
- Leiz, Steffen;
- Betzler, Cornelia;
- Strom, Tim M.;
- Sperl, Wolfgang;
- Meitinger, Thomas;
- Wortmann, Saskia B.
Publication type:
journal article
Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients.
Published in:
Metabolites (2218-1989), 2024, v. 14, n. 9, p. 479, doi. 10.3390/metabo14090479
By:
- Weerd, Jorine C. van der;
- Wegberg, Annemiek M. J. van;
- Boer, Theo S.;
- Engelke, Udo F. H.;
- Coene, Karlien L. M.;
- Wevers, Ron A.;
- Bakker, Stephan J. L.;
- Blaauw, Pim de;
- Groen, Joost;
- Spronsen, Francjan J. van;
- Heiner-Fokkema, M. Rebecca
Publication type:
Article
PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.
Published in:
Metabolites (2218-1989), 2023, v. 13, n. 11, p. 1141, doi. 10.3390/metabo13111141
By:
- Achleitner, Melanie T.;
- Jans, Judith J. M.;
- Ebner, Laura;
- Spenger, Johannes;
- Konstantopoulou, Vassiliki;
- Feichtinger, René G.;
- Brugger, Karin;
- Mayr, Doris;
- Wevers, Ron A.;
- Thiel, Christian;
- Wortmann, Saskia B.;
- Mayr, Johannes A.
Publication type:
Article
Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline.
Published in:
Metabolites (2218-1989), 2021, v. 11, n. 9, p. 568, doi. 10.3390/metabo11090568
By:
- Hoegen, Brechtje;
- Zammit, Alan;
- Gerritsen, Albert;
- Engelke, Udo F. H.;
- Castelein, Steven;
- van de Vorst, Maartje;
- Kluijtmans, Leo A. J.;
- Huigen, Marleen C. D. G.;
- Wevers, Ron A.;
- van Gool, Alain J.;
- Gilissen, Christian;
- Coene, Karlien L. M.;
- Kulkarni, Purva
Publication type:
Article
Variable Selection in Untargeted Metabolomics and the Danger of Sparsity.
Published in:
Metabolites (2218-1989), 2020, v. 10, n. 11, p. 470, doi. 10.3390/metabo10110470
By:
- Tinnevelt, Gerjen H.;
- Engelke, Udo F.H.;
- Wevers, Ron A.;
- Veenhuis, Stefanie;
- Willemsen, Michel A.;
- Coene, Karlien L.M.;
- Kulkarni, Purva;
- Jansen, Jeroen J.
Publication type:
Article
Lactate infusion as therapeutical intervention: a scoping review.
Published in:
European Journal of Pediatrics, 2022, v. 181, n. 6, p. 2227, doi. 10.1007/s00431-022-04446-3
By:
- van Gemert, Loes A.;
- de Galan, Bastiaan E.;
- Wevers, Ron A.;
- ter Heine, Rob;
- Willemsen, Michèl A.
Publication type:
Article
Erratum to perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet Part A 161A: 578-584.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1618, doi. 10.1002/ajmg.a.36518
By:
- Funke, Simone;
- Gardeitchik, Thatjana;
- Kouwenberg, Dorus;
- Mohamed, Miski;
- Wortmann, Saskia;
- Korsch, Eckhard;
- Adamovicz, Maciej;
- Al‐Gazali, Lihadh;
- Wevers, Ron A.;
- Horvath, Adrien;
- Lefeber, Dirk J.;
- Morava, Eva
Publication type:
Article
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1049, doi. 10.1002/ajmg.a.36392
By:
- Van Asbeck, Ellyze;
- Wolthuis, David F.G.J.;
- Mohamed, Miski;
- Wevers, Ron A.;
- Korenke, Cristoph G.;
- Gardeitchik, Thatjana;
- Morava, Eva
Publication type:
Article
Perinatal and early infantile symptoms in congenital disorders of glycosylation.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 578, doi. 10.1002/ajmg.a.35702
By:
- Funke, Simone;
- Gardeitchik, Thatjana;
- Kouwenberg, Dorus;
- Mohamed, Miski;
- Wortmann, Saskia B.;
- Korsch, Eckhard;
- Adamowicz, Maciej;
- Al‐Gazali, Lihadh;
- Wevers, Ron A.;
- Horvath, Adrienne;
- Lefeber, Dirk J.;
- Morava, Éva
Publication type:
Article
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Published in:
Nature Genetics, 2008, v. 40, n. 1, p. 32, doi. 10.1038/ng.2007.45
By:
- Kornak, Uwe;
- Reynders, Ellen;
- Dimopoulou, Aikaterini;
- van Reeuwijk, Jeroen;
- Fischer, Bjoern;
- Rajab, Anna;
- Budde, Birgit;
- Nürnberg, Peter;
- Foulquier, Francois;
- Lefeber, Dirk;
- Urban, Zsolt;
- Gruenewald, Stephanie;
- Annaert, Wim;
- Brunner, Han G.;
- van Bokhoven, Hans;
- Wevers, Ron;
- Morava, Eva;
- Matthijs, Gert;
- Van Maldergem, Lionel;
- Mundlos, Stefan
Publication type:
Article
Molecular characterization of testicular adrenal rest tumors in congenital adrenal hyperplasia: lesions with both adrenocortical and leydig cell features.
Published in:
2015
By:
- Smeets, Evelien E J W;
- Span, Paul N;
- van Herwaarden, Antonius E;
- Wevers, Ron A;
- Hermus, Ad R M M;
- Sweep, Fred C G J;
- Claahsen-van der Grinten, Hedi L
Publication type:
Journal Article
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.
Published in:
2011
By:
- Morava, Eva;
- Kühnisch, Jirko;
- Drijvers, Jefte M;
- Robben, Joris H;
- Cremers, Cor;
- van Setten, Petra;
- Branten, Amanda;
- Stumpp, Sabine;
- de Jong, Alphons;
- Voesenek, Krysta;
- Vermeer, Sascha;
- Heister, Angelien;
- Claahsen-van der Grinten, Hedi L;
- O'Neill, Charles W;
- Willemsen, Michèl A;
- Lefeber, Dirk;
- Deen, Peter M T;
- Kornak, Uwe;
- Kremer, Hannie;
- Wevers, Ron A
Publication type:
journal article
SUCNR1-mediated chemotaxis of macrophages aggravates obesity-induced inflammation and diabetes.
Published in:
Diabetologia, 2017, v. 60, n. 7, p. 1304, doi. 10.1007/s00125-017-4261-z
By:
- Diepen, Janna;
- Robben, Joris;
- Hooiveld, Guido;
- Carmone, Claudia;
- Alsady, Mohammad;
- Boutens, Lily;
- Bekkenkamp-Grovenstein, Melissa;
- Hijmans, Anneke;
- Engelke, Udo;
- Wevers, Ron;
- Netea, Mihai;
- Tack, Cees;
- Stienstra, Rinke;
- Deen, Peter
Publication type:
Article
A spectroscopic test suggests that fragment ion structure annotations in MS/MS libraries are frequently incorrect.
Published in:
Communications Chemistry, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42004-024-01112-7
By:
- van Tetering, Lara;
- Spies, Sylvia;
- Wildeman, Quirine D. K.;
- Houthuijs, Kas J.;
- van Outersterp, Rianne E.;
- Martens, Jonathan;
- Wevers, Ron A.;
- Wishart, David S.;
- Berden, Giel;
- Oomens, Jos
Publication type:
Article
Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma.
Published in:
Scientific Reports, 2016, p. 30486, doi. 10.1038/srep30486
By:
- van Lith, Sanne A. M.;
- Navis, Anna C.;
- Lenting, Krissie;
- Verrijp, Kiek;
- Schepens, Jan T. G.;
- Hendriks, Wiljan J. A. J.;
- Schubert, Nil A.;
- Venselaar, Hanka;
- Wevers, Ron A.;
- van Rooij, Arno;
- Wesseling, Pieter;
- Molenaar, Remco J.;
- van Noorden, Cornelis J. F.;
- Pusch, Stefan;
- Tops, Bastiaan;
- Leenders, William P. J.
Publication type:
Article
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses.
Published in:
PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138622
By:
- Langereis, Eveline J.;
- Wagemans, Tom;
- Kulik, Wim;
- Lefeber, Dirk J.;
- van Lenthe, Henk;
- Oussoren, Esmee;
- van der Ploeg, Ans T.;
- Ruijter, George J.;
- Wevers, Ron A.;
- Wijburg, Frits A.;
- van Vlies, Naomi
Publication type:
Article
Towards the Disease Biomarker in an Individual Patient Using Statistical Health Monitoring.
Published in:
PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0092452
By:
- Engel, Jasper;
- Blanchet, Lionel;
- Engelke, Udo F. H.;
- Wevers, Ron A.;
- Buydens, Lutgarde M. C.
Publication type:
Article
Optimized Metabolomic Approach to Identify Uremic Solutes in Plasma of Stage 3–4 Chronic Kidney Disease Patients.
Published in:
PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0071199
By:
- Mutsaers, Henricus A. M.;
- Engelke, Udo F. H.;
- Wilmer, Martijn J. G.;
- Wetzels, Jack F. M.;
- Wevers, Ron A.;
- van den Heuvel, Lambertus P.;
- Hoenderop, Joost G.;
- Masereeuw, Rosalinde
Publication type:
Article
Identification of Novel Translational Urinary Biomarkers for Acetaminophen-Induced Acute Liver Injury Using Proteomic Profiling in Mice.
Published in:
PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049524
By:
- van Swelm, Rachel P. L.;
- Laarakkers, Coby M. M.;
- van der Kuur, Ellen C.;
- Morava-Kozicz, Eva;
- Wevers, Ron A.;
- Augustijn, Kevin D.;
- Touw, Daan J.;
- Sandel, Maro H.;
- Masereeuw, Rosalinde;
- Russel, Frans G. M.
Publication type:
Article
Cerebrospinal Fluid Glucose and Lactate: Age-Specific Reference Values and Implications for Clinical Practice.
Published in:
PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042745
By:
- Leen, Wilhelmina G.;
- Willemsen, Michel A.;
- Wevers, Ron A.;
- Verbeek, Marcel M.;
- Mendelson, John E.
Publication type:
Article
Ovarian Cyst Fluid of Serous Ovarian Tumors Contains Large Quantities of the Brain Amino Acid N-acetylaspartate.
Published in:
PLoS ONE, 2010, v. 5, n. 4, p. 1, doi. 10.1371/journal.pone.0010293
By:
- Kolwijck, Eva;
- Wevers, Ron A.;
- Engelke, Udo F.;
- Woudenberg, Jannes;
- Bulten, Johan;
- Blom, Henk J.;
- Massuger, Leon F. A. G.
Publication type:
Article
Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.
Published in:
Metabolic Brain Disease, 2016, v. 31, n. 3, p. 587, doi. 10.1007/s11011-015-9778-6
By:
- Sass, Jörn;
- Vaithilingam, Jathana;
- Gemperle-Britschgi, Corinne;
- Delnooz, Cathérine;
- Kluijtmans, Leo;
- Warrenburg, Bart;
- Wevers, Ron
Publication type:
Article
Muscle function in a patient with Brody's disease.
Published in:
1999
By:
- De Ruiter, Cornelis J.;
- Wevers, Ron A.;
- Van Engelen, Baziel G.M.;
- Verdijk, Peter W.L.;
- De Haan, Arnold;
- De Ruiter, C J;
- Wevers, R A;
- Van Engelen, B G;
- Verdijk, P W;
- De Haan, A
Publication type:
journal article
Long-term outcome in pyridoxine-dependent epilepsy.
Published in:
Developmental Medicine & Child Neurology, 2012, v. 54, n. 9, p. 849, doi. 10.1111/j.1469-8749.2012.04347.x
By:
- BOK, LEVINUS A;
- HALBERTSMA, FEICO J;
- HOUTERMAN, SASKIA;
- WEVERS, RON A;
- VREESWIJK, CHARLOTTE;
- JAKOBS, CORNELIS;
- STRUYS, EDUARD;
- VAN DER HOEVEN, JOHAN H;
- SIVAL, DEBORAH A;
- WILLEMSEN, MICHÈL A
Publication type:
Article
The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP.
Published in:
PLoS Genetics, 2020, v. 16, n. 7, p. 1, doi. 10.1371/journal.pgen.1008884
By:
- Szeri, Flora;
- Lundkvist, Stefan;
- Donnelly, Sylvia;
- Engelke, Udo F. H.;
- Rhee, Kyu;
- Williams, Charlene J.;
- Sundberg, John P.;
- Wevers, Ron A.;
- Tomlinson, Ryan E.;
- Jansen, Robert S.;
- van de Wetering, Koen
Publication type:
Article
Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunction.
Published in:
NMR in Biomedicine, 2010, v. 23, n. 4, p. 353, doi. 10.1002/nbm.1468
By:
- Zannolli, Raffaella;
- Buoni, Sabrina;
- Tassini, Maria;
- De Nicola, Anna;
- Betti, Gianni;
- De Felice, Claudio;
- Orsi, Alessandra;
- Varetti, Maria Concetta;
- Ferrara, Francesco;
- Messina, Mario;
- Giannini, Cosimo;
- Mohn, Angelika;
- Chiarelli, Francesco;
- Liberati, Marco;
- Strambi, Mirella;
- Funghini, Silvia;
- Vivi, Antonio;
- Wevers, Ron A.;
- Hayek, Joseph
Publication type:
Article
N-acetyl resonances in in vivo and in vitro NMR spectroscopy of cystic ovarian tumors.
Published in:
NMR in Biomedicine, 2009, v. 22, n. 10, p. 1093, doi. 10.1002/nbm.1417
By:
- Kolwijck, Eva;
- Engelke, Udo F.;
- van der Graaf, Marinette;
- Heerschap, Arend;
- Blom, Henk J.;
- Hadfoune, M'Hamed;
- Buurman, Wim A.;
- Massuger, Leon F.;
- Wevers, Ron A.
Publication type:
Article
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.
Published in:
NMR in Biomedicine, 2009, v. 22, n. 5, p. 538, doi. 10.1002/nbm.1367
By:
- Engelke, Udo F. H.;
- Tassini, Maria;
- Hayek, Joseph;
- de Vries, Maaike;
- Bilos, Appie;
- Vivi, Antonio;
- Valensin, Gianni;
- Buoni, Sabrina;
- Zannolli, Raffaella;
- Brussel, Wim;
- Kremer, Berry;
- Salomons, Gajja S.;
- Veendrick-Meekes, Monique J. B. M.;
- Kluijtmans, Leo A. J.;
- Morava, Éva;
- Wevers, Ron A.
Publication type:
Article
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.
Published in:
NMR in Biomedicine, 2008, v. 21, n. 2, p. 138, doi. 10.1002/nbm.1170
By:
- Engelke, Udo F. H.;
- Sass, Jörn Oliver;
- Van Coster, Rudy N.;
- Gerlo, Erik;
- Olbrich, Heike;
- Krywawych, Stefan;
- Calvin, Jacqui;
- Hart, Claire;
- Omran, Heymut;
- Wevers, Ron A.
Publication type:
Article
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism.
Published in:
NMR in Biomedicine, 2006, v. 19, n. 2, p. 271, doi. 10.1002/nbm.1018
By:
- Engelke, Udo F. H.;
- Kremer, Berry;
- Kluijtmans, Leo A. J.;
- van der Graaf, Marinette;
- Morava, Eva;
- Loupatty, Ference J.;
- Wanders, Ronald J. A.;
- Moskau, Detlef;
- Loss, Sandra;
- van den Bergh, Erik;
- Wevers, Ron A.
Publication type:
Article
Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional 1H and two-dimensional 1H-13C NMR.
Published in:
NMR in Biomedicine, 2005, v. 18, n. 5, p. 331, doi. 10.1002/nbm.966
By:
- Engelke, Udo F. H.;
- Tangerman, Albert;
- Willemsen, Michèl A. A. P.;
- Moskau, Detlef;
- Loss, Sandra;
- Mudd, S. Harvey;
- Wevers, Ron A.
Publication type:
Article
In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism.
Published in:
NMR in Biomedicine, 2001, v. 14, n. 3, p. 167, doi. 10.1002/nbm.690
By:
- Moolenaar, Sytske H.;
- Knaap, Marjo S. van der;
- Engelke, Udo F. H.;
- Pouwels, Petra J. W.;
- Janssen-Zijlstra, Fokje S. M.;
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High-resolution proton nuclear magnetic resonance spectroscopy of ovarian cyst fluid.
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Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
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Journal of Magnetic Resonance Imaging, 2013, v. 37, n. 4, p. 974, doi. 10.1002/jmri.23852
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Monitoring creatine and phosphocreatine by C MR spectroscopic imaging during and after C4 creatine loading: a feasibility study.
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Amino Acids, 2016, v. 48, n. 8, p. 1857, doi. 10.1007/s00726-016-2294-0
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Lactobacilli and acidosis in children with short small bowel.
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Publication type:
journal article
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.
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Human Genetics, 2000, v. 106, n. 5, p. 538, doi. 10.1007/s004390050022
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Article
metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes.
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NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0132-5
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- Wasserman, Wyeth;
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Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
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European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1051, doi. 10.1038/ejhg.2014.239
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Article
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
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European Journal of Human Genetics, 2014, v. 22, n. 7, p. 888, doi. 10.1038/ejhg.2013.154
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