Clinical manifestations and management of fatty acid oxidation disorders
Merritt, J. Lawrence, MacLeod, Erin, Jurecka, Agnieszka, Hainline, Bryan
Published in Reviews in endocrine & metabolic disorders (01.12.2020)
Published in Reviews in endocrine & metabolic disorders (01.12.2020)
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Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin
Lasio, M. Laura Duque, Leshinski, Angela C., Ducich, Nicole H., Flore, Leigh Anne, Lehman, April, Shur, Natasha, Jayakar, Parul B., Hainline, Bryan E., Basinger, Alice A., Wilson, William G., Diaz, George A., Erbe, Richard W., Koeberl, Dwight D., Vockley, Jerry, Bedoyan, Jirair K.
Published in Molecular genetics and metabolism (01.06.2023)
Published in Molecular genetics and metabolism (01.06.2023)
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Principal component analysis of urine metabolites detected by NMR and DESI-MS in patients with inborn errors of metabolism
Pan, Zhengzheng, Gu, Haiwei, Talaty, Nari, Chen, Huanwen, Shanaiah, Narasimhamurthy, Hainline, Bryan E, Cooks, R. Graham, Raftery, Daniel
Published in Analytical and bioanalytical chemistry (01.01.2007)
Published in Analytical and bioanalytical chemistry (01.01.2007)
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An Atypical Case of Canavan Disease With Stroke-Like Presentation
Delaney, Katherine E., BA, Kralik, Stephen F., MD, Hainline, Bryan E., MD, PhD, Golomb, Meredith R., MD, MSc
Published in Pediatric neurology (01.02.2015)
Published in Pediatric neurology (01.02.2015)
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Neonatal Graves' disease associated with severe metabolic abnormalities
Lewis, Katherine A, Engle, William, Hainline, Bryan E, Johnson, Nancy, Corkins, Mark, Eugster, Erica A
Published in Pediatrics (Evanston) (01.07.2011)
Published in Pediatrics (Evanston) (01.07.2011)
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Journal Article
1H NMR metabolomics study of age profiling in children
Gu, Haiwei, Pan, Zhengzheng, Xi, Bowei, Hainline, Bryan E., Shanaiah, Narasimhamurthy, Asiago, Vincent, Gowda, G. A. Nagana, Raftery, Daniel
Published in NMR in biomedicine (01.10.2009)
Published in NMR in biomedicine (01.10.2009)
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Class selection of amino acid metabolites in body fluids using chemical derivatization and their enhanced ¹³C NMR
Shanaiah, Narasimhamurthy, Desilva, M. Aruni, Nagana Gowda, G.A, Raftery, Michael A, Hainline, Bryan E, Raftery, Daniel
Published in Proceedings of the National Academy of Sciences - PNAS (10.07.2007)
Published in Proceedings of the National Academy of Sciences - PNAS (10.07.2007)
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Journal Article
High-level Expression of Maize γ-zein Protein in Transgenic Soybean (Glycine max)
Li, Zhiwu, Meyer, Sarah, Essig, Juliane S, Liu, Ying, Schapaugh, Melissa A, Muthukrishnan, S, Hainline, Bryan E, Trick, Harold N
Published in Molecular breeding (01.08.2005)
Published in Molecular breeding (01.08.2005)
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Journal Article
Central Flap Necrosis After LASIK/Reply
Moshirfar, Majid, Meyer, Jay J, Hainline, Bryan C, Price, Marianne O, Price, Francis W, Choi, David M
Published in Journal of refractive surgery (1995) (01.10.2007)
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Published in Journal of refractive surgery (1995) (01.10.2007)
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Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations
Vladutiu, Georgirene D., Quackenbush, Elizabeth J., Hainline, Bryan E., Albers, Simone, Smail, David S., Bennett, Michael J.
Published in The Journal of pediatrics (01.11.2002)
Published in The Journal of pediatrics (01.11.2002)
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Journal Article
IS IT TIME TO MOVE BEYOND ACYLCARNITINE PROFILES? LESSONS FROM THE CLINICAL APPLICATION OF A HIGH-DEFINITION LC-MS/MS ACYLCARNITINE METHOD
Luna, Carolina, Chandler, Griffin, Lah, Melissa, Conboy, Erin, McPheron, Molly, Graham, Brett, Hainline, Bryan, Miller, Marcus
Published in Molecular genetics and metabolism (01.04.2022)
Published in Molecular genetics and metabolism (01.04.2022)
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Journal Article
OP006: Is it time to move beyond acylcarnitine profiles? Lessons from the clinical application of a high-definition LC-MS/MS acylcarnitine method
Luna, Carolina, Griffin, Chandler, Lah, Melissa, Conboy, Erin, McPheron, Molly, Graham, Brett, Hainline, Bryan, Miller, Marcus
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Journal Article
Pyruvate carboxylase deficiency—insights from liver transplantation
Nyhan, William L, Khanna, Ajai, Barshop, Bruce A, Naviaux, Robert K, Precht, Andrew F, Lavine, Joel E, Hart, Marquis A, Hainline, Bryan E, Wappner, Rebecca S, Nichols, Sharon, Haas, Richard H
Published in Molecular genetics and metabolism (01.09.2002)
Published in Molecular genetics and metabolism (01.09.2002)
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Journal Article
IDENTIFYING A MADD-LIKE BIOCHEMICAL IMPOSTER BETTER KNOWN AS FLAVIN ADENINE DINUCLEOTIDE SYNTHASE DEFICIENCY: A RETROSPECTIVE CLIR APPROACH
Stander, Zinandré, Ammous, Zineb, Werker, Joanne, Miller, Marcus, Sapp, Katherine, Hainline, Bryan, Mendelsohn, Bryce, Studinski, April, Schultz, Matthew, Hall, Patricia, Matern, Dietrich, Tortorelli, Silvia, Oglesbee, Devin, Gavrilov, Dimitar
Published in Molecular genetics and metabolism (01.03.2023)
Published in Molecular genetics and metabolism (01.03.2023)
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Journal Article
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Stephenson, Sarah E.M., Costain, Gregory, Blok, Laura E.R., Silk, Michael A., Nguyen, Thanh Binh, Dong, Xiaomin, Alhuzaimi, Dana E., Dowling, James J., Walker, Susan, Amburgey, Kimberly, Hayeems, Robin Z., Rodan, Lance H., Schwartz, Marc A., Picker, Jonathan, Lynch, Sally A., Gupta, Aditi, Rasmussen, Kristen J., Schimmenti, Lisa A., Klee, Eric W., Niu, Zhiyv, Agre, Katherine E., Chilton, Ilana, Chung, Wendy K., Revah-Politi, Anya, Au, P.Y. Billie, Griffith, Christopher, Racobaldo, Melissa, Raas-Rothschild, Annick, Ben Zeev, Bruria, Moutton, Sebastien, Morice-Picard, Fanny, Carmignac, Virginie, Cornaton, Jenny, Marle, Nathalie, Devinsky, Orrin, Stimach, Chandler, Wechsler, Stephanie Burns, Hainline, Bryan E., Sapp, Katie, Willems, Marjolaine, Bruel, Ange-line, Dias, Kerith-Rae, Evans, Carey-Anne, Roscioli, Tony, Sachdev, Rani, Temple, Suzanna E.L., Zhu, Ying, Baker, Joshua J., Scheffer, Ingrid E., Gardiner, Fiona J., Schneider, Amy L., Muir, Alison M., Mefford, Heather C., Crunk, Amy, Heise, Elizabeth M., Millan, Francisca, Monaghan, Kristin G., Person, Richard, Wentzensen, Ingrid M., Cogné, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Vincent, Marie, Besnard, Thomas, Piton, Amelie, Marcelis, Carlo, Kato, Kohji, Koyama, Norihisa, Ogi, Tomoo, Goh, Elaine Suk-Ying, Richmond, Christopher, Amor, David J., Boyce, Jessica O., Morgan, Angela T., Hildebrand, Michael S., Kaspi, Antony, Bahlo, Melanie, Friðriksdóttir, Rún, Katrínardóttir, Hildigunnur, Sulem, Patrick, Stefánsson, Kári, Björnsson, Hans Tómas, Mandelstam, Simone, Morleo, Manuela, Mariani, Milena, Scala, Marcello, Accogli, Andrea, Torella, Annalaura, Capra, Valeria, Wallis, Mathew, Jansen, Sandra, de Haan, Hugoline, Sadedin, Simon, Lim, Sze Chern, White, Susan M., Ascher, David B., Schenck, Annette, Lockhart, Paul J., Christodoulou, John, Tan, Tiong Yang
Published in American journal of human genetics (07.04.2022)
Published in American journal of human genetics (07.04.2022)
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