Carnitine transport and fatty acid oxidation von Longo, Nicola, Frigeni, Marta, Pasquali, Marzia

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Direct bone effects of calcimimetics in chronic kidney disease? von Mazzaferro, Sandro, Pasquali, Marzia

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Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG) von Pasquali, Marzia, Yu, Chunli, Coffee, Bradford

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Global Analysis of Plasma Lipids Identifies Liver-Derived Acylcarnitines as a Fuel Source for Brown Fat Thermogenesis von Simcox, Judith, Geoghegan, Gisela, Maschek, John Alan, Bensard, Claire L., Pasquali, Marzia, Miao, Ren, Lee, Sanghoon, Jiang, Lei, Huck, Ian, Kershaw, Erin E., Donato, Anthony J., Apte, Udayan, Longo, Nicola, Rutter, Jared, Schreiber, Renate, Zechner, Rudolf, Cox, James, Villanueva, Claudio J.

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Oxygen extraction ratio to identify patients at increased risk of intradialytic hypotension von Rotondi, Silverio, Tartaglione, Lida, De Martini, Natalia, Bagordo, Domenico, Caissutti, Sara, Pasquali, Marzia, Muci, Maria Luisa, Mazzaferro, Sandro

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Inflammation, Oxidative Stress, and Bone in Chronic Kidney Disease in the Osteoimmunology Era von Mazzaferro, Sandro, Bagordo, Domenico, De Martini, Natalia, Pasquali, Marzia, Rotondi, Silverio, Tartaglione, Lida, Stenvinkel, Peter

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Quantitative urine amino acid analysis using liquid chromatography tandem mass spectrometry and aTRAQ ® reagents von Held, Patrice K., White, Laura, Pasquali, Marzia

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Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism von Coelho, David, Kim, Jaeseung C, Miousse, Isabelle R, Fung, Stephen, du Moulin, Marcel, Buers, Insa, Suormala, Terttu, Burda, Patricie, Frapolli, Michele, Stucki, Martin, Nürnberg, Peter, Thiele, Holger, Robenek, Horst, Höhne, Wolfgang, Longo, Nicola, Pasquali, Marzia, Mengel, Eugen, Watkins, David, Shoubridge, Eric A, Majewski, Jacek, Rosenblatt, David S, Fowler, Brian, Rutsch, Frank, Baumgartner, Matthias R

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Interactions of sclerostin with FGF23, soluble klotho and vitamin D in renal transplantation von Tartaglione, Lida, Pasquali, Marzia, Rotondi, Silverio, Muci, Maria Luisa, Leonangeli, Cristiana, Farcomeni, Alessio, Fassino, Valeria, Mazzaferro, Sandro

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Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes von Eisengart, Julie B., Pierpont, Elizabeth I., Kaizer, Alexander M., Rudser, Kyle D., King, Kelly E., Pasquali, Marzia, Polgreen, Lynda E., Dickson, Patricia I., Le, Steven Q., Miller, Weston P., Tolar, Jakub, Orchard, Paul J., Lund, Troy C.

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MADD-like pattern of acylcarnitines associated with sertraline use von Ingoglia, Filippo, Tanfous, Mohsen, Ellezam, Benjamin, Anderson, Katherine J., Pasquali, Marzia, Botto, Lorenzo D.

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Soluble α-Klotho Serum Levels in Chronic Kidney Disease von Mazzaferro, Sandro, Farcomeni, Alessio, Leonangeli, Cristiana, Mandanici, Giusy, Muci, Maria Luisa, Tartaglione, Lida, Pasquali, Marzia, Rotondi, Silverio, Sales, Silvia

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Creatine metabolism in patients with urea cycle disorders von Ingoglia, Filippo, Chong, Jean-Leon, Pasquali, Marzia, Longo, Nicola

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P011: X-linked adrenoleukodystrophy after implementation of newborn screening: A reference laboratory perspective von Prinzi, Julia, Pasquali, Marzia, Palmquist, Rachel, Wong, Kristen, Francis, Stephanie

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News on Biomarkers in CKD‐MBD von Mazzaferro, Sandro, MD, Tartaglione, Lida, MD, Rotondi, Silverio, MD, Bover, Jordi, Goldsmith, David, Pasquali, Marzia, MD, PhD

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Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective von Prinzi, Julia, Pasquali, Marzia, Hobert, Judith A, Palmquist, Rachel, Wong, Kristen N, Francis, Stephanie, De Biase, Irene

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Bone biopsy in chronic kidney disease: still neglected and in need of revitalization von Mazzaferro, Sandro, Pasquali, Marzia

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Use of Steroid Profiling by UPLC-MS/MS as a Second Tier Test in Newborn Screening for Congenital Adrenal Hyperplasia: The Utah Experience von Schwarz, Elisabeth, Liu, Aiping, Randall, Harper, Haslip, Christa, Keune, Fay, Murray, Mary, Longo, Nicola, Pasquali, Marzia

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Diagnosing mucopolysaccharidosis IVA von Wood, Timothy C., Harvey, Katie, Beck, Michael, Burin, Maira Graeff, Chien, Yin-Hsiu, Church, Heather J., D’Almeida, Vânia, van Diggelen, Otto P., Fietz, Michael, Giugliani, Roberto, Harmatz, Paul, Hawley, Sara M., Hwu, Wuh-Liang, Ketteridge, David, Lukacs, Zoltan, Miller, Nicole, Pasquali, Marzia, Schenone, Andrea, Thompson, Jerry N., Tylee, Karen, Yu, Chunli, Hendriksz, Christian J.

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O01: Outcomes of newborn screening for mucopolysaccharidosis type I: Boston Children’s Hospital single center experience von Siddharth, Aishwarya, Grassie, Christina, Michl, Emma, Peake, Roy, Bodamer, Olaf, Steet, Richard, Pasquali, Marzia, Pollard, Laura

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