Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
Campeau, Philippe M., Kim, Jaeseung C., Lu, James T., Schwartzentruber, Jeremy A., Abdul-Rahman, Omar A., Schlaubitz, Silke, Murdock, David M., Jiang, Ming-Ming, Lammer, Edward J., Enns, Gregory M., Rhead, William J., Rowland, Jon, Robertson, Stephen P., Cormier-Daire, Valérie, Bainbridge, Matthew N., Yang, Xiang-Jiao, Gingras, Marie-Claude, Gibbs, Richard A., Rosenblatt, David S., Majewski, Jacek, Lee, Brendan H.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders
Enns, Gregory M, Berry, Susan A, Berry, Gerard T, Rhead, William J, Brusilow, Saul W, Hamosh, Ada
Published in The New England journal of medicine (31.05.2007)
Published in The New England journal of medicine (31.05.2007)
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Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B
Ho, Gladys, Yonezawa, Atsushi, Masuda, Satohiro, Inui, Ken-ichi, Sim, Keow G., Carpenter, Kevin, Olsen, Rikke K.J., Mitchell, John J., Rhead, William J., Peters, Gregory, Christodoulou, John
Published in Human mutation (01.01.2011)
Published in Human mutation (01.01.2011)
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Mutation Update for UBE3A Variants in Angelman Syndrome
Sadikovic, Bekim, Fernandes, Priscilla, Zhang, Victor Wei, Ward, Patricia A., Miloslavskaya, Irene, Rhead, William, Rosenbaum, Richard, Gin, Robert, Roa, Benjamin, Fang, Ping
Published in Human mutation (01.12.2014)
Published in Human mutation (01.12.2014)
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Agalsidase Alfa and Kidney Dysfunction in Fabry Disease
WEST, Michael, NICHOLLS, Kathy, SCHIFFMANN, Raphael, MEHTA, Atul, CLARKE, Joe T. R, STEINER, Robert, BECK, Michael, BARSHOP, Bruce A, RHEAD, William, MENSAH, Robert, RIES, Markus
Published in Journal of the American Society of Nephrology (01.05.2009)
Published in Journal of the American Society of Nephrology (01.05.2009)
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Identification of Urine Organic Acids for the Detection of Inborn Errors of Metabolism Using Urease and Gas Chromatography-Mass Spectrometry (GC/MS)
Lo, Stanley F, Pierzchalski, Keely, Young, Velta, Rhead, William J
Published in Methods in molecular biology (Clifton, N.J.) (2022)
Published in Methods in molecular biology (Clifton, N.J.) (2022)
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‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long‐term outcome and effects of expanded newborn screening using tandem mass spectrometry
Dionisi‐Vici, Carlo, Deodato, Federica, Röschinger, Wulf, Rhead, William, Wilcken, Bridget
Published in Journal of inherited metabolic disease (01.04.2006)
Published in Journal of inherited metabolic disease (01.04.2006)
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Characteristic Pulvinar Sign in Pseudo-α-galactosidase Deficiency Syndrome
Farooq, Salman, Hiner, Bradley C, Rhead, William J, Kirschner, Alison La Pean, Chelimsky, Thomas C
Published in JAMA neurology (01.08.2016)
Published in JAMA neurology (01.08.2016)
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National Academy of Clinical Biochemistry Laboratory Medicine Practice Guidelines: Follow-Up Testing for Metabolic Disease Identified by Expanded Newborn Screening Using Tandem Mass Spectrometry; Executive Summary
Dietzen, Dennis J, Rinaldo, Piero, Whitley, Ronald J, Rhead, William J, Hannon, W. Harry, Garg, Uttam C, Lo, Stanley F, Bennett, Michael J
Published in Clinical chemistry (Baltimore, Md.) (01.09.2009)
Published in Clinical chemistry (Baltimore, Md.) (01.09.2009)
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Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease
Messinger, Yoav H., Mendelsohn, Nancy J., Rhead, William, Dimmock, David, Hershkovitz, Eli, Champion, Michael, Jones, Simon A., Olson, Rebecca, White, Amy, Wells, Cara, Bali, Deeksha, Case, Laura E., Young, Sarah P., Rosenberg, Amy S., Kishnani, Priya S.
Published in Genetics in medicine (01.01.2012)
Published in Genetics in medicine (01.01.2012)
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Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin
Van Calcar, Sandra C., Baker, Mei W., Williams, Phillip, Jones, Susan A., Xiong, Blia, Thao, Mai Choua, Lee, Sheng, Yang, Mai Khou, Rice, Greg M., Rhead, William, Vockley, Jerry, Hoffman, Gary, Durkin, Maureen S.
Published in Molecular genetics and metabolism (01.09.2013)
Published in Molecular genetics and metabolism (01.09.2013)
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Journal Article
Targeted Disruption of Mouse Long-Chain Acyl-CoA Dehydrogenase Gene Reveals Crucial Roles for Fatty Acid Oxidation
Kurtz, David M., Rinaldo, Piero, Rhead, William J., Tian, Liqun, Millington, David S., Vockley, Jerry, Hamm, Doug A., Brix, Amy E., Lindsey, J. Russell, Pinkert, Carl A., O'Brien, William E., Wood, Philip A.
Published in Proceedings of the National Academy of Sciences - PNAS (22.12.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (22.12.1998)
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Urea cycle disorders: clinical presentation outside the newborn period
Smith, Wendy, Kishnani, Priya S, Lee, Brendan, Singh, Rani H, Rhead, William J, Sniderman King, Lisa, Smith, Michael, Summar, Marshall
Published in Critical care clinics (01.10.2005)
Published in Critical care clinics (01.10.2005)
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US Newborn Screening System Guidelines II: Follow-up of Children, Diagnosis, Management, and Evaluation Statement of the Council of Regional Networks for Genetic Services (CORN)
Pass, Kenneth A., Lane, Peter A., Fernhoff, Paul M., Hinton, Cynthia F., Panny, Susan R., Parks, John S., Pelias, Mary Z., Rhead, William J., Ross, Sonya I., Wethers, Doris L., Elsas, Louis J.
Published in The Journal of pediatrics (01.10.2000)
Published in The Journal of pediatrics (01.10.2000)
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Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse
COX, Keith B, HAMM, Doug A, MILLINGTON, David S, MATERN, Dietrich, VOCKLEY, Jerry, RINALDO, Piero, PINKERT, Carl A, RHEAD, William J, LINDSEY, J. Russell, WOOD, Philip A
Published in Human molecular genetics (15.09.2001)
Published in Human molecular genetics (15.09.2001)
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Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: An arterial spin tagging study
Moore, David F., Ye, Frank, Brennan, Marie-Luise, Gupta, Surya, Barshop, Bruce A., Steiner, Robert D., Rhead, William J., Brady, Roscoe O., Hazen, Stanley L., Schiffmann, Raphael
Published in Journal of magnetic resonance imaging (01.10.2004)
Published in Journal of magnetic resonance imaging (01.10.2004)
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Nutritional management of urea cycle disorders
Singh, Rani H, Rhead, William J, Smith, Wendy, Lee, Brendan, Sniderman King, Lisa, Summar, Marshall
Published in Critical care clinics (01.10.2005)
Published in Critical care clinics (01.10.2005)
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Rescue from neonatal death in the murine model of hereditary tyrosinemia by glutathione monoethylester and vitamin C treatment
Langlois, Chantale, Jorquera, Rossana, Orejuela, Diana, Bergeron, Anne, Finegold, Milton J., Rhead, William J., Tanguay, Robert M.
Published in Molecular genetics and metabolism (01.03.2008)
Published in Molecular genetics and metabolism (01.03.2008)
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Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency
CORYDON, Morten Juhl, VOCKLEY, Jerry, LEVY, Harvey, SEWELL, Adrian Clive, ROE, Charles, MATERN, Dietrich, DASOUKI, Majed, GREGERSEN, Niels, RINALDO, Piero, RHEAD, William James, KJELDSEN, Margrethe, WINTER, Vibeke, RIGGS, Charles, BABOVIC-VUKSANOVIC, Dusica, SMEITINK, Jan, DE JONG, Jan
Published in Pediatric research (2001)
Published in Pediatric research (2001)
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