Literature DB >> 29541953

Think big - think omics.

Ron A Wevers1, Nenad Blau2.   

Abstract

Mesh:

Year:  2018        PMID: 29541953     DOI: 10.1007/s10545-018-0165-4

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


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  10 in total

1.  N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.

Authors:  Lucia Abela; Luke Simmons; Katharina Steindl; Bernhard Schmitt; Massimo Mastrangelo; Pascal Joset; Mihaela Papuc; Heinrich Sticht; Alessandra Baumer; Lisa M Crowther; Déborah Mathis; Anita Rauch; Barbara Plecko
Journal:  J Inherit Metab Dis       Date:  2015-07-15       Impact factor: 4.982

2.  The Assembly Pathway of Mitochondrial Respiratory Chain Complex I.

Authors:  Sergio Guerrero-Castillo; Fabian Baertling; Daniel Kownatzki; Hans J Wessels; Susanne Arnold; Ulrich Brandt; Leo Nijtmans
Journal:  Cell Metab       Date:  2016-10-06       Impact factor: 27.287

3.  Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Authors:  Saskia B Wortmann; Frédéric M Vaz; Thatjana Gardeitchik; Lisenka E L M Vissers; G Herma Renkema; Janneke H M Schuurs-Hoeijmakers; Wim Kulik; Martin Lammens; Christin Christin; Leo A J Kluijtmans; Richard J Rodenburg; Leo G J Nijtmans; Anne Grünewald; Christine Klein; Joachim M Gerhold; Tamas Kozicz; Peter M van Hasselt; Magdalena Harakalova; Wigard Kloosterman; Ivo Barić; Ewa Pronicka; Sema Kalkan Ucar; Karin Naess; Kapil K Singhal; Zita Krumina; Christian Gilissen; Hans van Bokhoven; Joris A Veltman; Jan A M Smeitink; Dirk J Lefeber; Johannes N Spelbrink; Ron A Wevers; Eva Morava; Arjan P M de Brouwer
Journal:  Nat Genet       Date:  2012-06-10       Impact factor: 38.330

Review 4.  The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.

Authors:  Àngels Garcia-Cazorla; Fanny Mochel; Foudil Lamari; Jean-Marie Saudubray
Journal:  J Inherit Metab Dis       Date:  2014-11-21       Impact factor: 4.982

5.  NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

Authors:  Clara D M van Karnebeek; Luisa Bonafé; Xiao-Yan Wen; Maja Tarailo-Graovac; Sara Balzano; Beryl Royer-Bertrand; Angel Ashikov; Livia Garavelli; Isabella Mammi; Licia Turolla; Catherine Breen; Dian Donnai; Valérie Cormier-Daire; Delphine Heron; Gen Nishimura; Shinichi Uchikawa; Belinda Campos-Xavier; Antonio Rossi; Thierry Hennet; Koroboshka Brand-Arzamendi; Jacob Rozmus; Keith Harshman; Brian J Stevenson; Enrico Girardi; Giulio Superti-Furga; Tammie Dewan; Alissa Collingridge; Jessie Halparin; Colin J Ross; Margot I Van Allen; Andrea Rossi; Udo F Engelke; Leo A J Kluijtmans; Ed van der Heeft; Herma Renkema; Arjan de Brouwer; Karin Huijben; Fokje Zijlstra; Torben Heise; Thomas Boltje; Wyeth W Wasserman; Carlo Rivolta; Sheila Unger; Dirk J Lefeber; Ron A Wevers; Andrea Superti-Furga
Journal:  Nat Genet       Date:  2016-05-23       Impact factor: 38.330

6.  Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Authors:  Arjan Pol; G Herma Renkema; Albert Tangerman; Edwin G Winkel; Udo F Engelke; Arjan P M de Brouwer; Kent C Lloyd; Renee S Araiza; Lambert van den Heuvel; Heymut Omran; Heike Olbrich; Marijn Oude Elberink; Christian Gilissen; Richard J Rodenburg; Jörn Oliver Sass; K Otfried Schwab; Hendrik Schäfer; Hanka Venselaar; J Silvia Sequeira; Huub J M Op den Camp; Ron A Wevers
Journal:  Nat Genet       Date:  2017-12-18       Impact factor: 38.330

7.  Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.

Authors:  Lucia Abela; Ronen Spiegel; Lisa M Crowther; Andrea Klein; Katharina Steindl; Sorina Mihaela Papuc; Pascal Joset; Yoav Zehavi; Anita Rauch; Barbara Plecko; Thomas Luke Simmons
Journal:  PLoS One       Date:  2017-05-02       Impact factor: 3.240

8.  HMDB 4.0: the human metabolome database for 2018.

Authors:  David S Wishart; Yannick Djoumbou Feunang; Ana Marcu; An Chi Guo; Kevin Liang; Rosa Vázquez-Fresno; Tanvir Sajed; Daniel Johnson; Carin Li; Naama Karu; Zinat Sayeeda; Elvis Lo; Nazanin Assempour; Mark Berjanskii; Sandeep Singhal; David Arndt; Yonjie Liang; Hasan Badran; Jason Grant; Arnau Serra-Cayuela; Yifeng Liu; Rupa Mandal; Vanessa Neveu; Allison Pon; Craig Knox; Michael Wilson; Claudine Manach; Augustin Scalbert
Journal:  Nucleic Acids Res       Date:  2018-01-04       Impact factor: 16.971

9.  Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism.

Authors:  Jessica J Y Lee; Wyeth W Wasserman; Georg F Hoffmann; Clara D M van Karnebeek; Nenad Blau
Journal:  Genet Med       Date:  2017-07-20       Impact factor: 8.822

10.  Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.

Authors:  Karlien L M Coene; Leo A J Kluijtmans; Ed van der Heeft; Udo F H Engelke; Siebolt de Boer; Brechtje Hoegen; Hanneke J T Kwast; Maartje van de Vorst; Marleen C D G Huigen; Irene M L W Keularts; Michiel F Schreuder; Clara D M van Karnebeek; Saskia B Wortmann; Maaike C de Vries; Mirian C H Janssen; Christian Gilissen; Jasper Engel; Ron A Wevers
Journal:  J Inherit Metab Dis       Date:  2018-02-16       Impact factor: 4.982

  10 in total
  5 in total

1.  Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.

Authors:  Rosa Navarrete; Fátima Leal; Ana I Vega; Ana Morais-López; María Teresa Garcia-Silva; Elena Martín-Hernández; Pilar Quijada-Fraile; Ana Bergua; Inmaculada Vives; Inmaculada García-Jiménez; Raquel Yahyaoui; Consuelo Pedrón-Giner; Amaya Belanger-Quintana; Sinziana Stanescu; Elvira Cañedo; Oscar García-Campos; María Bueno-Delgado; Carmen Delgado-Pecellín; Isidro Vitoria; María Dolores Rausell; Elena Balmaseda; Mari Luz Couce; Lourdes R Desviat; Begoña Merinero; Pilar Rodríguez-Pombo; Magdalena Ugarte; Celia Pérez-Cerdá; Belén Pérez
Journal:  Eur J Hum Genet       Date:  2019-01-09       Impact factor: 4.246

Review 2.  An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders.

Authors:  Jean-Marie Saudubray; Angela Garcia-Cazorla
Journal:  Dialogues Clin Neurosci       Date:  2018-12       Impact factor: 5.986

3.  Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform.

Authors:  Ramon Bonte; Michiel Bongaerts; Serwet Demirdas; Janneke G Langendonk; Hidde H Huidekoper; Monique Williams; Willem Onkenhout; Edwin H Jacobs; Henk J Blom; George J G Ruijter
Journal:  Metabolites       Date:  2019-11-26

4.  Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment.

Authors:  Tessa Wassenberg; Ben P H Geurtz; Leo Monnens; Ron A Wevers; Michèl A Willemsen; Marcel M Verbeek
Journal:  Mol Genet Metab Rep       Date:  2021-04-26

Review 5.  Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.

Authors:  Àngels García-Cazorla; Jean-Marie Saudubray
Journal:  J Inherit Metab Dis       Date:  2018-07-16       Impact factor: 4.982

  5 in total

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