Ngā hua rapu kaituhi :: APM

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Lipidomics—Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases mā Martina Zandl‐Lang, Barbara Plecko, Harald Köfeler

I whakaputaina 2023

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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2

New insights into human lysine degradation pathways with relevance to pyridoxine‐dependent epilepsy due to antiquitin deficiency mā Lisa M. Crowther, Déborah Mathis, Martin Poms, Barbara Plecko

I whakaputaina 2019

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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3

Disorders affecting vitamin B<sub>6</sub> metabolism mā Matthew P. Wilson, Barbara Plecko, Philippa B. Mills, Peter T. Clayton

I whakaputaina 2019

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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4

Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation mā Andrea Skrabl‐Baumgartner, Barbara Plecko, Wolfgang M. Schmidt, N. König, Michael S. Hershfield, U Gruber‐Sedlmayr, Min Ae Lee‐Kirsch

I whakaputaina 2017

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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5

Neonatal Seizures—Are We there Yet? mā Georgia Ramantani, Bernhard Schmitt, Barbara Plecko, Ronit Pressler, Gabriele Wohlrab, Katrin Klebermass‐Schrehof, Cornelia Hagmann, Francesco Pisani, Geraldine B. Boylan

I whakaputaina 2019

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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6

Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD) mā Daniela Karall, Michaela Brunner‐Krainz, Katharina Kogelnig, Vassiliki Konstantopoulou, Esther M. Maier, Dorothea Möslinger, Barbara Plecko, Wolfgang Sperl, Barbara Volkmar, Sabine Scholl‐Bürgi

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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7

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency mā Lucia Abela, Ronen Spiegel, Lisa M. Crowther, Andrea Klein, Katharina Steindl, Sorina Mihaela Papuc, Pascal Joset, Yoav Zehavi, Anita Rauch, Barbara Plecko, Thomas L. Simmons

I whakaputaina 2017

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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8

Multi-omics profiling in spinal muscular atrophy (SMA): investigating lipid and metabolic alterations through longitudinal CSF analysis of Nusinersen-treated patients mā Martina Zandl‐Lang, Thomas Züllig, Michael Holzer, Thomas O. Eichmann, Barbara Darnhofer, Annette Schwerin-Nagel, Joachim Zobel, Harald Haidl, Ariane Biebl, Harald Köfeler, Barbara Plecko

I whakaputaina 2025

Whiwhi kuputuhi katoa
Artigo

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9

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome mā Mateusz Kolanczyk, Peter Krawitz, Jochen Hecht, Anna Hupalowska, Marta Miączyńska, Katrin Marschner, Claire Schlack, Denise Emmerich, Karolina Kobus, Uwe Kornak, Peter N. Robinson, Barbara Plecko, Gernot Grangl, Sabine Uhrig, Stefan Mundlos, Denise Horn

I whakaputaina 2014

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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10

Pyridoxine responsiveness in novel mutations of the <i>PNPO</i> gene mā Barbara Plecko, Karl Paul, Philippa B. Mills, Peter T. Clayton, Eduard Paschke, Oliver Maier, Oswald Hasselmann, G. Schmiedel, Simone Kanz, Mary Connolly, Nicole I. Wolf, Eduard A. Struys, Sylvia Stöckler, Lucia Abela, Doris Hofer

I whakaputaina 2014

Whiwhi kuputuhi katoa
Artigo

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11

De novo<i>SCN1A</i>mutations are a major cause of severe myoclonic epilepsy of infancy mā Lieve Claes, Berten Ceulemans, Dominique Audenaert, Katrien Smets, Ann Löfgren, Jurgen Del‐Favero, Sirpa Ala‐Mello, Lina Basel‐Vanagaite, Barbara Plecko, Salmo Raskin, Paul Thiry, Nicole I. Wolf, Christine Van Broeckhoven, Peter De Jonghe

I whakaputaina 2003

Whiwhi kuputuhi katoa
Artigo

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12

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes mā Anaïs Begemann, Mario A. Acuña, Markus Zweier, Marie Vincent, Katharina Steindl, Ruxandra Bachmann‐Gagescu, Annette Hackenberg, Lucia Abela, Barbara Plecko, Judith Kroell-Seger, Alessandra Baumer, Kazuhiro Yamakawa, Yushi Inoue, Reza Asadollahi, Heinrich Sticht, Hanns Ulrich Zeilhofer, Anita Rauch

I whakaputaina 2019

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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13

eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs mā Marjo S. van der Knaap, Carola G.M. van Berkel, Jochen Herms, Rudy Van Coster, Martina Baethmann, Sakkubai Naidu, Eugen Boltshauser, Michèl A.A.P. Willemsen, Barbara Plecko, Georg F. Hoffmann, Christopher G. Proud, Gert C. Scheper, Jan C. Pronk

I whakaputaina 2003

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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14

Predictors of and attitudes toward counseling about SUDEP and other epilepsy risk factors among Austrian, German, and Swiss neurologists and neuropediatricians mā Adam Strzelczyk, Gerda Zschebek, Sebastian Bauer, Christoph Baumgartner, Martin Grond, Anke Hermsen, Matthias Kieslich, Günter Krämer, Gerhard Kurlemann, Theodor W. May, Patrick May, Bernd A. Neubauer, Margarete Pfäfflin, Barbara Plecko, Philippe Ryvlin, Susanne Schubert‐Bast, Hermann Stefan, Eugen Trinka, Susanne Knake, Carola Seifart, Felix Rosenow

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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15

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency mā Sarah Verheyen, Jasmin Blatterer, Michael R. Speicher, Gandham SriLakshmi Bhavani, Geert‐Jan Boons, Mai-Britt Ilse, Dominik Andrae, Jens Sproß, Frédéric M. Vaz, Susanne Gerit Kircher, Laura Posch-Pertl, Daniela Baumgartner, Torben Lübke, Hitesh Shah, Ali Al Kaissi, Katta M. Girisha, Barbara Plecko

I whakaputaina 2021

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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16

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase mā Celeste Decker, Zi‐Fan Yu, Roberto Giugliani, Ida Vanessa Döederlein Schwartz, Nathalie Guffon, Elisa Leão Teles, Clara Sá-Miranda, J. E. Wraith, Michael Beck, Laila Arash, Maurizio Scarpa, David Ketteridge, John J. Hopwood, Barbara Plecko, Robert D. Steiner, Chester B. Whitley, Paige Kaplan, Stuart J. Swiedler, Susan E. Conrad, Paul Harmatz

I whakaputaina 2010

Whiwhi kuputuhi katoa
Artigo

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17

Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials mā Clara van Karnebeek, Hans Hartmann, Sravan Jaggumantri, Levinus A. Bok, Barb Cheng, Mary Connolly, Curtis R. Coughlin, Anibh M. Das, Sídney M. Gospe, Cornelis Jakobs, Johanna H. van der Lee, Saadet Mercimek‐Mahmutoglu, Uta Meyer, Eduard A. Struys, Graham Sinclair, Johan Van Hove, Jean-Paul Collet, Barbara Plecko, Sylvia Stöckler

I whakaputaina 2012

Whiwhi kuputuhi katoa
Artigo

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18

Management and outcome in 75 individuals with long‐chain fatty acid oxidation defects: results from a workshop mā 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

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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19

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency mā Uwe Ahting, Johannes A. Mayr, Arnaud Vanlander, Steven Hardy, Saikat Santra, Christine Makowski, Charlotte L. Alston, Franz Zimmermann, Lucia Abela, Barbara Plecko, Marianne Rohrbach, Stephanie Spranger, Sara Seneca, Boris Rolinski, Angela Hagendorff, Maja Hempel, Wolfgang Sperl, Thomas Meitinger, Joél Smet, Robert W. Taylor, Rudy Van Coster, Peter Freisinger, Holger Prokisch, Tobias B. Haack

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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20

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long‐term pulmonary function in patients treated with recombinant human <i>N</i>‐acetylgalactosamine 4‐sulfat... mā Paul Harmatz, Zi‐Fan Yu, Roberto Giugliani, Ida Vanessa Döederlein Schwartz, Nathalie Guffon, Elisa Leão Teles, Clara Sá-Miranda, J. E. Wraith, Michael Beck, Laila Arash, Maurizio Scarpa, David Ketteridge, John J. Hopwood, Barbara Plecko, Robert D. Steiner, Chester B. Whitley, Paige Kaplan, Stuart J. Swiedler, Karen Hardy, Kenneth I. Berger, Celeste Decker

I whakaputaina 2010

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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