检索结果 - Martin Lindner

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  1. 1
    Metagenomic abundance estimation and diagnostic testing on species level

    Metagenomic abundance estimation and diagnostic testing on species level 由 Martin Lindner, Bernhard Y. Renard

    出版 2012
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  2. 2
    Living with an inborn error of metabolism detected by newborn screening—Parents’ perspectives on child development and impact on family life

    Living with an inborn error of metabolism detected by newborn screening—Parents’ perspectives on child development and impact on family life 由 Gwendolyn Gramer, Gisela Haege, Esther M. Glahn, Georg F. Hoffmann, Martin Lindner, Peter Burgard

    出版 2013
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  3. 3
    Neonatal Screening for Congenital Metabolic and Endocrine Disorders

    Neonatal Screening for Congenital Metabolic and Endocrine Disorders 由 Anja Lüders, Oliver Blankenstein, Inken Brockow, Regina Ensenauer, Martin Lindner, Andreas Schulze, U Nennstiel‐Ratzel

    出版 2021
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  4. 4
    Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

    Clinical and neurocognitive outcome in symptomatic isovaleric acidemia 由 Sarah C. Grünert, U. Wendel, Martin Lindner, Michael Leichsenring, Karl Otfried Schwab, Jerry Vockley, W. Lehnert, Regina Ensenauer

    出版 2012
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  5. 5
    Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism

    Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolis... 由 Johannes Zschocke, Jos P.N. Ruiter, Jochen Brand, Martin Lindner, Georg F. Hoffmann, Ronald J. A. Wanders, Ertan Mayatepek

    出版 2000
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  6. 6
    Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

    Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency 由 Marcel R. Zurflüh, Johannes Zschocke, Martin Lindner, François Feillet, Céline Chéry, Alberto Burlina, Raymond C. Stevens, Beat Thöny, Nenad Blau

    出版 2007
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  7. 7
    A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document

    A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document 由 Martina C. Cornel, Tessel Rigter, Stephanie S. Weinreich, Peter Burgard, Georg F. Hoffmann, Martin Lindner, J.G. Loeber, Kathrin Rupp, Domenica Taruscio, Luciano Vittozzi

    出版 2013
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  8. 8
    Next-generation sequencing of microbial cell-free DNA for rapid noninvasive diagnosis of infectious diseases in immunocompromised hosts

    Next-generation sequencing of microbial cell-free DNA for rapid noninvasive diagnosis of infectious diseases in immunocompromised hosts 由 José F. Camargo, Asim A. Ahmed, Martin Lindner, Michele I. Morris, Shweta Anjan, Anthony D. Anderson, Clara E. Prado, Sudeb C. Dalai, Octavio Martínez, Krishna V. Komanduri

    出版 2020
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  9. 9
    Next-generation sequencing of microbial cell-free DNA for rapid noninvasive diagnosis of infectious diseases in immunocompromised hosts

    Next-generation sequencing of microbial cell-free DNA for rapid noninvasive diagnosis of infectious diseases in immunocompromised hosts 由 José F. Camargo, Asim A. Ahmed, Martin Lindner, Michele I. Morris, Shweta Anjan, Anthony D. Anderson, Clara E. Prado, Sudeb C. Dalai, Octavio Martínez, Krishna V. Komanduri

    出版 2019
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  10. 10
    One Liver for Four Children: First Clinical Series of Liver Cell Transplantation for Severe Neonatal Urea Cycle Defects

    One Liver for Four Children: First Clinical Series of Liver Cell Transplantation for Severe Neonatal Urea Cycle Defects 由 Jochen Meyburg, Anibh M. Das, Friederike Hoerster, Martin Lindner, H. Kriegbaum, Guido Engelmann, Jan Schmidt, Michael Ott, Andrea Pettenazzo, Thomas Luecke, Harald Bertram, Georg F. Hoffmann, Alberto Burlina

    出版 2009
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  11. 11
    A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

    A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions 由 Holger Lerche, Christian Biervert, Alexi K. Alekov, Lothar Schleithoff, Martin Lindner, Werner Klingler, Frank Bretschneider, Nenad Mitrović, Karin Jurkat‐Rott, Harald Bode, F. Lehmann‐Horn, Ortrud K. Steinlein

    出版 1999
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  12. 12
    Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

    Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany * 由 Martin Lindner, Gwendolyn Gramer, Gisela Haege, Junmin Fang‐Hoffmann, Karl Otfried Schwab, Uta Tacke, Friedrich K. Trefz, Eugen Mengel, U. Wendel, Michael Leichsenring, Peter Burgard, Georg F. Hoffmann

    出版 2011
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  13. 13
    Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

    Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis 由 Carmen Dı́ez-Fernández, Véronique Rüfenacht, Saikat Santra, Allan M. Lund, René Santer, Martin Lindner, Trine Tangeraas, Caroline Unsinn, Pascale de Lonlay, Alberto Burlina, Clara van Karnebeek, Johannes Häberle

    出版 2016
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  14. 14
    Plasma Microbial Cell-Free DNA Sequencing from over 15,000 Patients Identified a Broad Spectrum of Pathogens

    Plasma Microbial Cell-Free DNA Sequencing from over 15,000 Patients Identified a Broad Spectrum of Pathogens 由 Sarah Y. Park, Eliza J Chang, Nathan A. Ledeboer, Kevin Messacar, Martin Lindner, Shivkumar Venkatasubrahmanyam, Judith C. Wilber, Marla Lay Vaughn, Sivan Bercovici, Bradley A. Perkins, Frederick S. Nolte

    出版 2023
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  15. 15
    Suggested guidelines for the diagnosis and management of urea cycle disorders

    Suggested guidelines for the diagnosis and management of urea cycle disorders 由 Johannes Häberle, Nathalie Boddaert, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Martina Huemer, Daniela Karall, Diego Martinelli, Pablo Crespo, René Santer, Aude Servais, Vassili Valayannopoulos, Martin Lindner, Vicente Rubio, Carlo Dionisi‐Vici

    出版 2012
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  16. 16
    Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

    Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options 由 Christian Staufner, Martin Lindner, Carlo Dionisi‐Vici, Peter Freisinger, Dries Dobbelaere, Claire Douillard, Nawal Makhseed, Beate K. Straub, Kimia Kahrizi, Diana Ballhausen, Giancarlo la Marca, Stefan Kölker, Dorothea Haas, Georg F. Hoffmann, Sarah C. Grünert, Henk J. Blom

    出版 2015
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  17. 17
    Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias

    Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias 由 Anna T. Reischl‐Hajiabadi, Elena Schnabel, Florian Gleich, Katharina Mengler, Martin Lindner, Peter Burgard, Roland Posset, Svenja Lommer‐Steinhoff, Sarah C. Grünert, Eva Thimm, Peter Freisinger, Julia B. Hennermann, Johannes Krämer, Gwendolyn Gramer, Dominic Lenz, Stine Christ, Friederike Hörster, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker, Ulrike Mütze

    出版 2024
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  18. 18
    Management and outcome in 75 individuals with long‐chain fatty acid oxidation defects: results from a workshop

    Management and outcome in 75 individuals with long‐chain fatty acid oxidation defects: results from a workshop 由 Ute Spiekerkoetter, Martin Lindner, René Santer, Marissa Grotzke, Matthias R. Baumgartner, Hansjosef Boehles, Anibh M. Das, Claudia M. Haase, Julia B. Hennermann, Daniela Karall, H. de Klerk, Ina Knerr, Hans-Georg Koch, Barbara Plecko, Wulf Röschinger, Karl Otfried Schwab, D. Scheible, Frits A. Wijburg, Johannes Zschocke, Ertan Mayatepek, U. Wendel

    出版 2009
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  19. 19
    Clinical presentation and outcome in a series of 88 patients with the cblC defect

    Clinical presentation and outcome in a series of 88 patients with the cblC defect 由 Sabine Fischer, Martina Huemer, Matthias R. Baumgartner, Federica Deodato, Diana Ballhausen, Avihu Boneh, Alberto Burlina, R. Cerone, Paula Garcia, Gülden Gökçay, Stephanie Grünewald, Johannes Häberle, Jaak Jaeken, David Ketteridge, Martin Lindner, Hanna Mandel, Diego Martinelli, Esmeralda Martins, Karl Otfried Schwab, Sarah C. Gruenert, Bernd Schwahn, L. Sztriha, Maren Tomaske, Friedrich K. Trefz, Laura Vilarinho, David S. Rosenblatt, Brian Fowler, Carlo Dionisi‐Vici

    出版 2014
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  20. 20
    Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

    Newborn screening and disease variants predict neurological outcome in isovaleric aciduria 由 Ulrike Mütze, Lucy Henze, Florian Gleich, Martin Lindner, Sarah C. Grünert, Ute Spiekerkoetter, René Santer, Holger Blessing, Eva Thimm, Regina Ensenauer, Johannes Weigel, Skadi Beblo, Maria Arélin, Julia B. Hennermann, Thorsten Marquardt, Iris Marquardt, Peter Freisinger, Johannes Krämer, Andrea Dieckmann, Natalie Weinhold, Mareike Keller, Magdalena Walter, Katharina A. Schiergens, Esther M. Maier, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker

    出版 2021
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