Works matching IS 01418955 AND DT 2018 AND VI 41 AND IP 3

Results: 26

Flux analysis of inborn errors of metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 309, doi. 10.1007/s10545-017-0124-5
By:
- Reijngoud, D.-J.
Publication type:
Article
Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 415, doi. 10.1007/s10545-017-0129-0
By:
- Körver-Keularts, Irene M. L. W.;
- Wang, Ping;
- Waterval, Huub W. A. H.;
- Kluijtmans, Leo A. J.;
- Wevers, Ron A.;
- Langhans, Claus-Dieter;
- Scott, Camilla;
- Habets, Daphna D. J.;
- Bierau, Jörgen
Publication type:
Article
The rendering of human phenotype and rare diseases in ICD-11.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 563, doi. 10.1007/s10545-018-0172-5
By:
- Chute, Christopher G.
Publication type:
Article
Think big — think omics.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 281, doi. 10.1007/s10545-018-0165-4
By:
- Wevers, Ron A.;
- Blau, Nenad
Publication type:
Article
Recognizable phenotypes in CDG.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 541, doi. 10.1007/s10545-018-0156-5
By:
- Ferreira, Carlos R.;
- Altassan, Ruqaia;
- Marques-Da-Silva, Dorinda;
- Francisco, Rita;
- Jaeken, Jaak;
- Morava, Eva
Publication type:
Article
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 533, doi. 10.1007/s10545-018-0174-3
By:
- Pantel, Jean T.;
- Zhao, Max;
- Mensah, Martin A.;
- Hajjir, Nurulhuda;
- Hsieh, Tzung-Chien;
- Hanani, Yair;
- Fleischer, Nicole;
- Kamphans, Tom;
- Mundlos, Stefan;
- Gurovich, Yaron;
- Krawitz, Peter M.
Publication type:
Article
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 457, doi. 10.1007/s10545-017-0126-3
By:
- Piraud, Monique;
- Pettazzoni, Magali;
- Lavoie, Pamela;
- Ruet, Séverine;
- Pagan, Cécile;
- Cheillan, David;
- Latour, Philippe;
- Vianey-Saban, Christine;
- Auray-Blais, Christiane;
- Froissart, Roseline
Publication type:
Article
Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 555, doi. 10.1007/s10545-017-0125-4
By:
- Lee, Jessica J. Y.;
- Gottlieb, Michael M.;
- Lever, Jake;
- Jones, Steven J. M.;
- Blau, Nenad;
- van Karnebeek, Clara D. M.;
- Wasserman, Wyeth W.
Publication type:
Article
Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 367, doi. 10.1007/s10545-018-0161-8
By:
- Martens, Jonathan;
- Berden, Giel;
- Bentlage, Herman;
- Coene, Karlien L. M.;
- Engelke, Udo F.;
- Wishart, David;
- van Scherpenzeel, Monique;
- Kluijtmans, Leo A. J.;
- Wevers, Ron A.;
- Oomens, Jos
Publication type:
Article
Multiomics tools for the diagnosis and treatment of rare neurological disease.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 425, doi. 10.1007/s10545-018-0154-7
By:
- Crowther, L. M.;
- Poms, M.;
- Plecko, Barbara
Publication type:
Article
The functional genomics laboratory: functional validation of genetic variants.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 297, doi. 10.1007/s10545-018-0146-7
By:
- Rodenburg, Richard J.
Publication type:
Article
Clinical glycomics for the diagnosis of congenital disorders of glycosylation.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 499, doi. 10.1007/s10545-018-0144-9
By:
- Abu Bakar, Nurulamin;
- Lefeber, Dirk J.;
- van Scherpenzeel, Monique
Publication type:
Article
Inborn errors of metabolism and the human interactome: a systems medicine approach.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 285, doi. 10.1007/s10545-018-0140-0
By:
- Woidy, Mathias;
- Muntau, Ania C.;
- Gersting, Søren W.
Publication type:
Article
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 435, doi. 10.1007/s10545-018-0139-6
By:
- Graham, Emma;
- Lee, Jessica;
- Price, Magda;
- Tarailo-Graovac, Maja;
- Matthews, Allison;
- Engelke, Udo;
- Tang, Jeffrey;
- Kluijtmans, Leo A. J.;
- Wevers, Ron A.;
- Wasserman, Wyeth W.;
- van Karnebeek, Clara D. M.;
- Mostafavi, Sara
Publication type:
Article
Targeted versus untargeted omics — the CAFSA story.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 447, doi. 10.1007/s10545-017-0134-3
By:
- del Mar Amador, Maria;
- Colsch, Benoit;
- Lamari, Foudil;
- Jardel, Claude;
- Ichou, Farid;
- Rastetter, Agnès;
- Sedel, Frédéric;
- Jourdan, Fabien;
- Frainay, Clément;
- Wevers, Ronald A.;
- Roze, Emmanuel;
- Depienne, Christel;
- Junot, Christophe;
- Mochel, Fanny
Publication type:
Article
The role of the Human Metabolome Database in inborn errors of metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 329, doi. 10.1007/s10545-018-0137-8
By:
- Mandal, Rupasri;
- Chamot, Danuta;
- Wishart, David S.
Publication type:
Article
“Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 525, doi. 10.1007/s10545-017-0133-4
By:
- Kremer, Laura S.;
- Wortmann, Saskia B.;
- Prokisch, Holger
Publication type:
Article
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 337, doi. 10.1007/s10545-017-0131-6
By:
- Coene, Karlien L. M.;
- Kluijtmans, Leo A. J.;
- van der Heeft, Ed;
- Engelke, Udo F. H.;
- de Boer, Siebolt;
- Hoegen, Brechtje;
- Kwast, Hanneke J. T.;
- van de Vorst, Maartje;
- Huigen, Marleen C. D. G.;
- Keularts, Irene M. L. W.;
- Schreuder, Michiel F.;
- van Karnebeek, Clara D. M.;
- Wortmann, Saskia B.;
- de Vries, Maaike C.;
- Janssen, Mirian C. H.;
- Gilissen, Christian;
- Engel, Jasper;
- Wevers, Ron A.
Publication type:
Article
Promises and pitfalls of untargeted metabolomics.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 355, doi. 10.1007/s10545-017-0130-7
By:
- Gertsman, Ilya;
- Barshop, Bruce A.
Publication type:
Article
Chemical glycomics enrichment: imaging the recycling of sialic acid in living cells.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 515, doi. 10.1007/s10545-017-0118-3
By:
- Gilormini, Pierre André;
- Lion, Cédric;
- Vicogne, Dorothée;
- Guérardel, Yann;
- Foulquier, François;
- Biot, Christophe
Publication type:
Article
Plasma lipidomics as a diagnostic tool for peroxisomal disorders.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 489, doi. 10.1007/s10545-017-0114-7
By:
- Herzog, Katharina;
- Pras-Raves, Mia L.;
- Ferdinandusse, Sacha;
- Vervaart, Martin A. T.;
- Luyf, Angela C. M.;
- van Kampen, Antoine H. C.;
- Wanders, Ronald J. A.;
- Waterham, Hans R.;
- Vaz, Frédéric M.
Publication type:
Article
The role of the clinician in the multi-omics era: are you ready?
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 571, doi. 10.1007/s10545-017-0128-1
By:
- van Karnebeek, Clara D. M.;
- Wortmann, Saskia B.;
- Tarailo-Graovac, Maja;
- Langeveld, Mirjam;
- Ferreira, Carlos R.;
- van de Kamp, Jiddeke M.;
- Hollak, Carla E.;
- Wasserman, Wyeth W.;
- Waterham, Hans R.;
- Wevers, Ron A.;
- Haack, Tobias B.;
- Wanders, Ronald J.A.;
- Boycott, Kym M.
Publication type:
Article
Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 407, doi. 10.1007/s10545-017-0109-4
By:
- Václavík, Jan;
- Coene, Karlien L. M.;
- Vrobel, Ivo;
- Najdekr, Lukáš;
- Friedecký, David;
- Karlíková, Radana;
- Mádrová, Lucie;
- Petsalo, Aleksanteri;
- Engelke, Udo F. H.;
- van Wegberg, Annemiek;
- Kluijtmans, Leo A. J.;
- Adam, Tomáš;
- Wevers, Ron A.
Publication type:
Article
Advances in metabolome information retrieval: turning chemistry into biology. Part II: biological information recovery.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 393, doi. 10.1007/s10545-017-0080-0
By:
- Tebani, Abdellah;
- Afonso, Carlos;
- Bekri, Soumeya
Publication type:
Article
Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 479, doi. 10.1007/s10545-017-0076-9
By:
- Herzog, Katharina;
- Pras-Raves, Mia L.;
- Ferdinandusse, Sacha;
- Vervaart, Martin A. T.;
- Luyf, Angela C. M.;
- van Kampen, Antoine H. C.;
- Wanders, Ronald J. A.;
- Waterham, Hans R.;
- Vaz, Frédéric M.
Publication type:
Article
Advances in metabolome information retrieval: turning chemistry into biology. Part I: analytical chemistry of the metabolome.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 379, doi. 10.1007/s10545-017-0074-y
By:
- Tebani, Abdellah;
- Afonso, Carlos;
- Bekri, Soumeya
Publication type:
Article