Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report by Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, Wuh-Liang Hwu, Wang-Tso Lee, Yin-Hsiu Chien

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A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature by Vincenza Gragnaniello, Silvia Carraro, Laura Rubert, Daniela Gueraldi, Chiara Cazzorla, Pamela Massa, Stefania Zanconato, Alberto B. Burlina

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First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children by Danika Nadeen Senanayake, Eresha. A. Jasinge, Kirit Pindolia, Jithangi Wanigasinghe, Kristin Monaghan, Sharon F. Suchy, Sainan Wei, Subashini Jaysena, Barry Wolf

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Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up by Jeremy Woods, Stephen Cederbaum

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LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots by Mari Ohira, Marianne Barr, Torayuki Okuyama, Ryuichi Mashima

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Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease by L.J. Sremba, R.C. Chang, N.M. Elbalalesy, E.J. Cambray-Forker, J.E. Abdenur

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Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation by Lina Johanna Moreno Giraldo, Ángela María Escudero Rodríguez, Adalberto Sánchez Gómez, José María Satizabal Soto

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A novel pathogenic variant c.44A > G (p. Asp15Gly) in TPM3 causing the phenotype of CMYP4A: A case report by Shanshan Fan, Guangpu Su, Mingfeng Li, Yunmiao Guo, Lei Wang, Jinliang Li

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Early presentation of adult-onset conditions: A dual diagnosis of hereditary hemochromatosis and porphyria cutanea tarda by Alanna Strong, Kierstin Keller, Jamie Merves

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Physiological competition of brain phenylalanine accretion: Initial pharmacokinetic analyses of aminoisobutyric and methylaminoisobutyric acids in Pahenu2−/− mice by Kara R. Vogel, Garrett R. Ainslie, Brian Phillips, Erland Arning, Teodoro Bottiglieri, Danny D. Shen, K. Michael Gibson

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Angelman syndrome and isovaleric acidemia: What is the link? by Alix Lambrecht, Samia Pichard, Hélène Maurey, Nuria Garcia Segarra, Séverine Drunat, Cécile Acquaviva-Bourdain, Sandrine Passemard, Jean-François Benoist, Anne-Laure Fauret-Amsellem, Manuel Schiff

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Response to: Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome by J.B. Eisengart, K.E. King, E. Shapiro, C.B. Whitley, J. Muenzer

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Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency by Carlos Pablo de Fuenmayor-Fernández de la Hoz, Germán Morís, Cecilia Jiménez-Mallebrera, Carmen Badosa, Aurelio Hernández-Laín, Alberto Blázquez Encinar, Miguel Ángel Martín, Cristina Domínguez-González

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Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia by Ailton C. Alves Júnior, Maurício V. Daker, Alexei M.C. Machado, Alan S. Luna, Dirceu C. Valladares Neto, Eugenia R. Valadares

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A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid c... by Kirkland A. Wilson, Yun Zhou, Gary Cunningham, Kimberly Chapman, Marshall Summar, Debra Regier

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Behavioral, social and school functioning in children with Pompe disease by Aditi Korlimarla, Gail A. Spiridigliozzi, Mihaela Stefanescu, Stephanie L. Austin, Priya S. Kishnani

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Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase by Coleman Turgeon, Kari Casas, Ryan Flanagan, Amy White, Dawn Peck, Gisele Bentz Pino, April Studinski Jones, Dimitar Gavrilov, Devin Oglesbee, Matthew J. Schultz, Silvia Tortorelli, Dietrich Matern, Patricia L. Hall

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Successful desensitization of Pegvaliase (Palynziq®) in a patient with phenylketonuria by Meera Patrawala, Merin Kuruvilla, Hong Li

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Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome by Paul A. Dawson, Soohyun Lee, Adam D. Ewing, Johannes B. Prins, Helen S. Heussler

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L-Fucose treatment of FUT8-CDG by Julien H. Park, Janine Reunert, Miao He, Robert G. Mealer, Maxence Noel, Yoshinao Wada, Marianne Grüneberg, Judit Horváth, Richard D. Cummings, Oliver Schwartz, Thorsten Marquardt

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