JIMD Reports, Volume 27

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The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group von Sirrs, S., Hollak, C., Merkel, M., Sechi, A., Glamuzina, E., Janssen, M. C., Lachmann, R., Langendonk, J., Scarpelli, M., Ben Omran, T., Mochel, F., Tchan, M. C.

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Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD) von Jeyaratnam, Jerold, ter Haar, Nienke M., de Sain-van der Velden, Monique G. M., Waterham, Hans R., van Gijn, Mariëlle E., Frenkel, Joost

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Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs) von Fiumara, Agata, Barone, Rita, Del Campo, Giuliana, Striano, Pasquale, Jaeken, Jaak

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Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6 von Reid, Emma S., Williams, Hywel, Stabej, Polona Le Quesne, James, Chela, Ocaka, Louise, Bacchelli, Chiara, Footitt, Emma J., Boyd, Stewart, Cleary, Maureen A., Mills, Philippa B., Clayton, Peter T.

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The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency von Diekman, Eugene, de Sain-van der Velden, Monique, Waterham, Hans, Kluijtmans, Leo, Schielen, Peter, van Veen, Evert Ben, Ferdinandusse, Sacha, Wijburg, Frits, Visser, Gepke

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SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature) von Maas, Roeltje R., Marina, Adela Della, de Brouwer, Arjan P. M., Wevers, Ron A., Rodenburg, Richard J, Wortmann, Saskia B.

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Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles von Pontoizeau, Clément, Habarou, Florence, Brassier, Anaïs, Veauville-Merllié, Alice, Grisel, Coraline, Arnoux, Jean-Baptiste, Vianey-Saban, Christine, Barouki, Robert, Chadefaux-Vekemans, Bernadette, Acquaviva, Cécile, de Lonlay, Pascale, Ottolenghi, Chris

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No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction von Piekutowska-Abramczuk, Dorota, Kocyła-Karczmarewicz, Beata, Małkowska, Maja, Łuczak, Sylwia, Iwanicka-Pronicka, Katarzyna, Siegmund, Stephanie, Yang, Hua, Wen, Quan, Hoang, Quan V., Silverman, Ronald H., Kowalski, Paweł, Szczypińska, Olga, Czornak, Kamila, Zimowski, Janusz, Płoski, Rafał, Pilch, Jacek, Ciara, Elżbieta, Zaremba, Jacek, Krajewska-Walasek, Małgorzata, Schon, Eric A., Pronicka, Ewa

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Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders von Fernandez-Guerra, Paula, Lund, M., Corydon, T. J., Cornelius, N., Gregersen, N., Palmfeldt, J., Bross, Peter

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Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency von Chantreuil, Julie, Favrais, Géraldine, Fakhri, Nadine, Tardieu, Marine, Roullet-Renoleau, Nicolas, Perez, Thierry, Travers, Nadine, Barantin, Laurent, Morel, Baptiste, Saliba, Elie, Labarthe, François

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Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion von Antoun, Ghadi, McBride, Skye, Vanstone, Jason R., Naas, Turaya, Michaud, Jean, Redpath, Stephanie, McMillan, Hugh J., Brophy, Jason, Daoud, Hussein, Chakraborty, Pranesh, Dyment, David, Holcik, Martin, Harper, Mary-Ellen, Lines, Matthew A.

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Further Delineation of the ALG9-CDG Phenotype von AlSubhi, Sarah, AlHashem, Amal, AlAzami, Anas, Tlili, Kalthoum, AlShahwan, Saad, Lefeber, Dirk, Alkuraya, Fowzan S., Tabarki, Brahim

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Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice von Mazzola, Priscila Nicolao, Bruinenberg, Vibeke, Anjema, Karen, van Vliet, Danique, Dutra-Filho, Carlos Severo, van Spronsen, Francjan J., van der Zee, Eddy A.

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IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia von Stockmann, Henning, Coss, Karen P., Rubio-Gozalbo, M. Estela, Knerr, Ina, Fitzgibbon, Maria, Maratha, Ashwini, Wilson, James, Rudd, Pauline, Treacy, Eileen P.

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Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency von Bala, P., Ferdinandusse, S., Olpin, S. E., Chetcuti, P., Morris, A. A. M.

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