Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study von Almontashiri, Naif A. M., Zha, Li, Young, Kim, Law, Terence, Kellogg, Mark D., Bodamer, Olaf A., Peake, Roy W. A.

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Cotinine in children admitted for asthma and readmission von Howrylak, Judie A, Spanier, Adam J, Huang, Bin, Peake, Roy W A, Kellogg, Mark D, Sauers, Hadley, Kahn, Robert S

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New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin von Alhebbi, Hamoud, Peer-Zada, Abdul Ali, Al-Hussaini, Abdulrahman A, Algubaisi, Sara, Albassami, Awad, AlMasri, Nasser, Alrusayni, Yasir, Alruzug, Ibrahim M, Alharby, Essa, Samman, Manar A, Ayoub, Syed Zubair, Maddirevula, Sateesh, Peake, Roy W A, Alkuraya, Fowzan S, Wali, Sami, Almontashiri, Naif A M

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Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease von de Moraes, Mariana B. M., de Souza, Hygor M. R., de Oliveira, Maria L. C., Peake, Roy W. A., Scalco, Fernanda B., Garrett, Rafael

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Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease von Shamsi, Monis Bilal, Saleh, Mohamed, Almuntashri, Makki, Alharby, Essa, Samman, Manar, Peake, Roy W. A., Al-Fadhli, Fatima M., Alasmari, Ali, Faqeih, Eissa A., Almontashiri, Naif A. M.

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Assessment of Glucocerebrosidase Enzyme Activity in Parkinson Disease Using Multiple Approaches von Ortega, Roberto A., Bodamer, Olaf, Peake, Roy W.A., Raymond, Deborah, Bressman, Susan B., Saunders‐Pullman, Rachel

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EDTA improves stability of whole blood C-peptide and insulin to over 24 hours at room temperature von McDonald, Timothy J, Perry, Mandy H, Peake, Roy W A, Pullan, Nicola J, O'Connor, John, Shields, Beverley M, Knight, Beatrice A, Hattersley, Andrew T

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Family hardships and serum cotinine in children with asthma von Spanier, Adam J, Beck, Andrew F, Huang, Bin, McGrady, Meghan E, Drotar, Dennis D, Peake, Roy W A, Kellogg, Mark D, Kahn, Robert S

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Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia von Haskovic, Minela, Derks, Britt, van der Ploeg, Liesbeth, Trommelen, Jorn, Nyakayiru, Jean, van Loon, Luc J C, Mackinnon, Sabrina, Yue, Wyatt W, Peake, Roy W A, Zha, Li, Demirbas, Didem, Qi, Wanshu, Huang, Xiaoping, Berry, Gerard T, Achten, Jelle, Bierau, Jörgen, Rubio-Gozalbo, M Estela, Coelho, Ana I

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Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort von Alharby, Essa, Faqeih, Eissa A., Saleh, Mohammed, Alameer, Seham, Almuntashri, Makki, Pastore, Annalisa, Samman, Manar A., Alnawfal, Abdullah M., Hashem, Mais, Zaytuni, Dimah, Alharbi, Ghadeer, Almannai, Mohammed, Alasmari, Ali, Mahmoud, Adel A., Alwadei, Ali H., Jad, Lamya, AlOtaibi, Ali, Al-Hakami, Fahad, Eyaid, Wafaa, Alkuraya, Fowzan S., Alfadhel, Majid, Peake, Roy W. A., Almontashiri, Naif A. M.

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Author Correction: Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study von Almontashiri, Naif A. M., Zha, Li, Young, Kim, Law, Terence, Kellogg, Mark D., Bodamer, Olaf A., Peake, Roy W. A.

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Newborn Screening for Lysosomal Storage Disorders: Quo Vadis? von Peake, Roy W A, Marsden, Deborah L, Bodamer, Olaf A, Gelb, Michael H, Millington, David S, Wijburg, Frits

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Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity von Berhe, Simon, Heeney, Matthew M, Campagna, Dean R, Thompson, John F, White, Eric J, Ross, Tristen, Peake, Roy Wa, Hanrahan, Jeffery D, Rodriguez, Vilmarie, Renaud, Deborah L, Patnaik, Mrinal S, Chang, Eugenia, Bottomley, Sylvia S, Fleming, Mark D

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Commentary on Severe Hyperhomocysteinemia in a Patient with Parkinson Disease von Peake, Roy W A

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“Teaching for the masses”—The e-Learning revolution von Peake, Roy W A

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Untargeted Metabolomics for Inborn Errors of Metabolism: Development and Evaluation of a Sustainable Reference Material for Correcting Inter-Batch Variability von Garrett, Rafael, Ptolemy, Adam S, Pickett, Sara, Kellogg, Mark D, Peake, Roy W A

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A retrospective study of adult patients with noncirrhotic hyperammonemia von Stergachis, Andrew B., Mogensen, Kris M., Khoury, Charbel C., Lin, Alexander P., Peake, Roy WA, Baker, Joshua J., Barkoudah, Ebrahim, Sahai, Inderneel, Sweetser, David A., Berry, Gerard T., Krier, Joel B.

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Turbulent Flow Liquid Chromatography-Tandem Mass Spectrometry Methods for Antiepileptic Drug Quantitation in Serum von Ptolemy, Adam S., Peake, Roy W. A., Kellogg, Mark D.

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Diagnostic Odyssey in a Child with Red-Colored Urine and Proteinuria von Guarino, Brianna, Ptolemy, Adam S, Baum, Michelle A, Palma, Melinda J, Kellogg, Mark D, Peake, Roy W A

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Towards a random-access LC-MS/MS model for busulfan analysis von Peake, Roy W.A., Law, Terence, Esposito, Christopher L., Kellogg, Mark D.

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