Publications by authors named "William Rhead"

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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).
Stanley F Lo, Keely Pierzchalski, Velta Young, William J Rhead

Methods Mol Biol· September 2022

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Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
George A Diaz, Andreas Schulze, Nicola Longo, William Rhead, Annette Feigenbaum

Mol Genet Metab· August 2019

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, William Rhead

Nat Genet· January 2017

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Characteristic Pulvinar Sign in Pseudo-α-galactosidase Deficiency Syndrome.
Salman Farooq, Bradley C Hiner, William J Rhead, Alison La Pean Kirschner, Thomas C Chelimsky

JAMA Neurol· August 2016

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Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.
Sandesh C S Nagamani, George A Diaz, William Rhead, Susan A Berry, Cynthia Le Mons

Mol Genet Metab· July 2016

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Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.
Laurie Smith, William Rhead, Joel Charrow, Suma P Shankar, Ashish Bavdekar

Mol Genet Metab· February 2016

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Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
Bianca Russell, Jennifer J Johnston, Leslie G Biesecker, Nancy Kramer, Angela Pickart, William Rhead

Am J Med Genet A· September 2015

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Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
Brendan Lee, George A Diaz, William Rhead, Uta Lichter-Konecki, Annette Feigenbaum

Genet Med· July 2015

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Mutation Update for UBE3A variants in Angelman syndrome.
Bekim Sadikovic, Priscilla Fernandes, Victor Wei Zhang, Patricia A Ward, Irene Miloslavskaya, William Rhead

Hum Mutat· December 2014

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Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.
Susan A Berry, Uta Lichter-Konecki, George A Diaz, Shawn E McCandless, William Rhead

Mol Genet Metab· May 2014

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Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
Sandra C Van Calcar, Mei W Baker, Phillip Williams, Susan A Jones, Blia Xiong, William Rhead

Mol Genet Metab· March 2014

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Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.
Raphael Schiffmann, Markus Ries, Derek Blankenship, Kathy Nicholls, Atul Mehta, William Rhead

Genet Med· December 2013

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Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.
George A Diaz, Lauren S Krivitzky, Masoud Mokhtarani, William Rhead, James Bartley

Hepatology· June 2013

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Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.
Ari Zimran, Gregory M Pastores, Anna Tylki-Szymanska, Derralynn A Hughes, Deborah Elstein, William Rhead

Am J Hematol· March 2013

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Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient.
Khalil I El-Chammas, Narayanan Venkatasubramani, Regan Veith, Neha Sekhri, William Rhead

Am J Med Genet A· May 2012

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Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.
Philippe M Campeau, Jaeseung C Kim, James T Lu, Jeremy A Schwartzentruber, Omar A Abdul-Rahman, William J Rhead

Am J Hum Genet· February 2012

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Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.
Yoav H Messinger, Nancy J Mendelsohn, William Rhead, David Dimmock, Eli Hershkovitz

Genet Med· January 2012

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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.
Gladys Ho, Atsushi Yonezawa, Satohiro Masuda, Ken-ichi Inui, Keow G Sim, William J Rhead

Hum Mutat· January 2011

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Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.
Lynne A Wolfe, Miao He, Jerry Vockley, Nicole Payne, William Rhead

J Inherit Metab Dis· December 2010

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Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control.
Brendan Lee, William Rhead, George A Diaz, Bruce F Scharschmidt, Asad Mian

Mol Genet Metab· July 2010

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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).
Stanley F Lo, Velta Young, William J Rhead

Methods Mol Biol· April 2010

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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.
Dennis J Dietzen, Piero Rinaldo, Ronald J Whitley, William J Rhead, W Harry Hannon

Clin Chem· September 2009

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Agalsidase alfa and kidney dysfunction in Fabry disease.
Michael West, Kathy Nicholls, Atul Mehta, Joe T R Clarke, Robert Steiner, William Rhead

J Am Soc Nephrol· May 2009

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Creating genetics-based infusion centers: a case study of two models.
Dawn J Laney, Amy L White, William J Rhead, Paul Fernhoff

Genet Med· August 2008

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Rescue from neonatal death in the murine model of hereditary tyrosinemia by glutathione monoethylester and vitamin C treatment.
Chantale Langlois, Rossana Jorquera, Diana Orejuela, Anne Bergeron, Milton J Finegold, William J Rhead

Mol Genet Metab· March 2008

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