2022 Overview of Metabolic Epilepsies by Birute Tumiene, Carlos R. Ferreira, Clara D. M. van Karnebeek

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A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND) by Hilde A. G. Warmerdam, Elise A. Termeulen-Ferreira, Laura A. Tseng, Jessica Y. Lee, Agnies M. van Eeghen, Agnies M. van Eeghen, Carlos R. Ferreira, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek

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Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9 by Imke M.E. Schuurmans, Ka M. Wu, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto

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Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9 by Imke M.E. Schuurmans, Ka M. Wu, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto

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Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing) by Elise A. Ferreira, Elise A. Ferreira, Mark J. N. Buijs, Mark J. N. Buijs, Robin Wijngaard, Robin Wijngaard, Joost G. Daams, Mareen R. Datema, Marc Engelen, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Machteld M. Oud, Machteld M. Oud, Frédéric M. Vaz, Frédéric M. Vaz, Mirjam M. C. Wamelink, Saskia N. van der Crabben, Mirjam Langeveld

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D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial by Peter Witters, Hans Andersson, Jaak Jaeken, Laura Tseng, Clara D. M. van Karnebeek, Dirk J. Lefeber, David Cassiman, Eva Morava

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NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum by Bibiche den Hollander, Bibiche den Hollander, Bibiche den Hollander, Anne Rasing, Merel A. Post, Merel A. Post, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Michèl A. Willemsen, Dirk J. Lefeber, Dirk J. Lefeber, Dirk J. Lefeber, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek

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Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy by Phillip A. Richmond, Frans van der Kloet, Frans van der Kloet, Frederic M. Vaz, Frederic M. Vaz, David Lin, Anuli Uzozie, Anuli Uzozie, Emma Graham, Michael Kobor, Sara Mostafavi, Perry D. Moerland, Philipp F. Lange, Philipp F. Lange, Antoine H. C. van Kampen, Antoine H. C. van Kampen, Wyeth W. Wasserman, Marc Engelen, Marc Engelen, Stephan Kemp, Stephan Kemp, Stephan Kemp, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek

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Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app by Eva M. M. Hoytema van Konijnenburg, Saskia B. Wortmann, Marina J. Koelewijn, Laura A. Tseng, Roderick Houben, Sylvia Stöckler-Ipsiroglu, Carlos R. Ferreira, Clara D. M. van Karnebeek

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Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan by Muhammad Wasim, Muhammad Wasim, Haq Nawaz Khan, Haq Nawaz Khan, Hina Ayesha, Susanna M. I. Goorden, Frederic M. Vaz, Clara D. M. van Karnebeek, Fazli Rabbi Awan, Fazli Rabbi Awan

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Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy by Bhavi P. Modi, Kate L. Del Bel, Susan Lin, Mehul Sharma, Phillip A. Richmond, Clara D. M. van Karnebeek, Edmond S. Chan, Vishal Avinashi, Wingfield E. Rehmus, Catherine M. Biggs, Wyeth W. Wasserman, Stuart E. Turvey

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De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy by Maja Tarailo‐Graovac, Farah R. Zahir, Irena Zivkovic, Michelle Moksa, Kathryn Selby, Sunita Sinha, Corey Nislow, Sylvia G. Stockler‐Ipsiroglu, Ruth Sheffer, Ann Saada‐Reisch, Jan M. Friedman, Clara D. M. vanKarnebeek, Gabriella A. Horvath

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The malate-aspartate shuttle is important for de novo serine biosynthesis by Melissa H. Broeks, Nils W.F. Meijer, Denise Westland, Marjolein Bosma, Johan Gerrits, Hannah M. German, Jolita Ciapaite, Clara D.M. van Karnebeek, Ronald J.A. Wanders, Fried J.T. Zwartkruis, Nanda M. Verhoeven-Duif, Judith J.M. Jans

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Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy by Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Tanya N. Nelson, Corneliu Bolbocean, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer

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Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability by Farah R. Zahir, Jill C. Mwenifumbo, Hye-Jung E. Chun, Emilia L. Lim, Clara D. M. Van Karnebeek, Madeline Couse, Karen L. Mungall, Leora Lee, Nancy Makela, Linlea Armstrong, Cornelius F. Boerkoel, Sylvie L. Langlois, Barbara M. McGillivray, Steven J. M. Jones, Jan M. Friedman, Marco A. Marra

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Adult GAMT deficiency: A literature review and report of two siblings by Bhavi P. Modi, Haq Nawaz Khan, Robin van der Lee, Muhammad Wasim, Charlotte A. Haaxma, Phillip A. Richmond, Britt Drögemöller, Suleman Shah, Gajja Salomons, Frans M. van der Kloet, Fred M. Vaz, Saskia N. van der Crabben, Colin J. Ross, Wyeth W. Wasserman, Clara D.M. van Karnebeek, Fazli Rabbi Awan

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Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism by Rianne E. van Outersterp, Sam J. Moons, Udo F. H. Engelke, Herman Bentlage, Tessa M. A. Peters, Arno van Rooij, Marleen C. D. G. Huigen, Siebolt de Boer, Ed van der Heeft, Leo A. J. Kluijtmans, Clara D. M. van Karnebeek, Ron A. Wevers, Giel Berden, Jos Oomens, Thomas J. Boltje, Karlien L. M. Coene, Jonathan Martens

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Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echoc... by Annemarijne R.J. Veenvliet, Mark R. Garrelfs, Floris E.A. Udink ten Cate, Sacha Ferdinandusse, Simone Denis, Sabine A. Fuchs, Marit Schwantje, Rosa Geurtzen, Annemiek M.J. van Wegberg, Marleen C.D.G. Huigen, Leo A.J. Kluijtmans, Ronald J.A. Wanders, Terry G.J. Derks, Lonneke de Boer, Riekelt H. Houtkooper, Maaike C. de Vries, Clara D.M. van Karnebeek

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