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William Rhead

Research Profile

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Philippe Campeau; Valérie Cormier-Daire; Gregory M Enns; Richard A Gibbs; Marie-Claude Gingras; Ming-Ming Jiang; Jaeseung C Kim; Edward J Lammer; James T Lu; Jacek Majewski; David M Murdock; William J Rhead; Stephen P Robertson; David S Rosenblatt; Jon Rowland; Silke Schlaubitz; Jeremy A Schwartzentruber; Xiang-Jiao Yang; Omar A Abdul-Rahman; Matthew N Bainbridge; Brendan H Lee
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.
Brendan Lee; William J Rhead; George A Diaz; Bruce F Scharschmidt; Asad Mian; Oleg Shchelochkov; J F Marier; Martin Beliveau; Joseph Mauney; Klara Dickinson; Antonia Martinez; Sharron Gargosky; Masoud Mokhtarani; Susan A Berry
Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control.
Stanley F Lo; Velta Young; William J Rhead
Identification of urine organic acids for the detection of inborn errors of metabolism using urease and gas chromatography-mass spectrometry (GC-MS).

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All Publications

2012: Philippe Campeau; Valérie Cormier-Daire; Gregory M Enns; Richard A Gibbs; Marie-Claude Gingras; Ming-Ming Jiang; Jaeseung C Kim; Edward J Lammer; James T Lu; Jacek Majewski; David M Murdock; William J Rhead; Stephen P Robertson; David S Rosenblatt; Jon Rowland; Silke Schlaubitz; Jeremy A Schwartzentruber; Xiang-Jiao Yang; Omar A Abdul-Rahman; Matthew N Bainbridge; Brendan H Lee
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.
American journal of human genetics 2012;90(2):282-9.
2010: Brendan Lee; William J Rhead; George A Diaz; Bruce F Scharschmidt; Asad Mian; Oleg Shchelochkov; J F Marier; Martin Beliveau; Joseph Mauney; Klara Dickinson; Antonia Martinez; Sharron Gargosky; Masoud Mokhtarani; Susan A Berry
Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control.
Molecular genetics and metabolism 2010;100(3):221-8.
2010: Stanley F Lo; Velta Young; William J Rhead
Identification of urine organic acids for the detection of inborn errors of metabolism using urease and gas chromatography-mass spectrometry (GC-MS).
Methods in molecular biology (Clifton, N.J.) 2010;603():433-43.
2009: Rodney E Willoughby; T Opladen; T Maier; William J Rhead; S Schmiedel; J Hoyer; C Drosten; C E Rupprecht; K Hyland; G F Hoffmann
Tetrahydrobiopterin deficiency in human rabies.
Journal of inherited metabolic disease 2009;32(1):65-72.
2008: Dawn J Laney; Amy L White; William J Rhead; Paul M FERNHOFF
Creating genetics-based infusion centers: a case study of two models.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(8):626-32.
2008: Chantale Langlois; Rossana Jorquera; Diana Orejuela; Anne Bergeron; Milton J Finegold; William J Rhead; Robert M Tanguay
Rescue from neonatal death in the murine model of hereditary tyrosinemia by glutathione monoethylester and vitamin C treatment.
Molecular genetics and metabolism 2008;93(3):306-13.
2007: Gregory M Enns; Susan A Berry; Gerard T Berry; William J Rhead; Saul W Brusilow; Ada Hamosh
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.
The New England journal of medicine 2007;356(22):2282-92.
2006: William J Rhead
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
Journal of inherited metabolic disease 2006;29(2-3):370-7.
2005: Wendy Smith; Priya S Kishnani; Brendan Lee; Rani H Singh; William J Rhead; Lisa Sniderman King; Michael Smith; Marshall Summar
Urea cycle disorders: clinical presentation outside the newborn period.
Critical care clinics 2005;21(4 Suppl):S9-17.
2005: Lisa Sniderman King; Rani H Singh; William J Rhead; Wendy Smith; Brendan Lee; Marshall Summar
Genetic counseling issues in urea cycle disorders.
Critical care clinics 2005;21(4 Suppl):S37-44.
2005: Rani H Singh; William J Rhead; Wendy Smith; Brendan Lee; Lisa Sniderman King; Marshall Summar
Nutritional management of urea cycle disorders.
Critical care clinics 2005;21(4 Suppl):S27-35.
2005: Brendan Lee; Rani H Singh; William J Rhead; Lisa Sniderman King; Wendy Smith; Marshall Summar
Considerations in the difficult-to-manage urea cycle disorder patient.
Critical care clinics 2005;21(4 Suppl):S19-25.
2005: Marshall Summar; Frederick Barr; Sheila Dawling; Wendy Smith; Brendan Lee; Rani H Singh; William J Rhead; Lisa Sniderman King; Brian W Christman
Unmasked adult-onset urea cycle disorders in the critical care setting.
Critical care clinics 2005;21(4 Suppl):S1-8.
2004: David F Moore; Frank Ye; Marie-Luise Brennan; Surya Gupta; Bruce A Barshop; Robert D Steiner; William J Rhead; Roscoe O Brady; Stanley L Hazen; Raphael Schiffmann
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study.
Journal of magnetic resonance imaging : JMRI 2004;20(4):674-83.
2004: William J Rhead; Mira Irons
The call from the newborn screening laboratory: frustration in the afternoon.
Pediatric clinics of North America 2004;51(3):803-18, xii.
2003: Caroline A Lifchez; William J Rhead; Steven R Leuthner; Mark S Lubinsky
Genitopatellar syndrome: expanding the phenotype.
American journal of medical genetics. Part A 2003;122A(1):80-3.
2002: Amy E Brix; Ada Elgavish; Tim Nagy; Barbara A Gower; William J Rhead; Philip A Wood
Evaluation of liver fatty acid oxidation in the leptin-deficient obese mouse.
Molecular genetics and metabolism 2002;75(3):219-26.
2001: Keith B Cox; Doug A Hamm; David S Millington; Dietrich Matern; Jerry Vockley; Piero Rinaldo; Carl A Pinkert; William J Rhead; J Russell Lindsey; Philip A Wood
Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.
Human molecular genetics 2001;10(19):2069-77.
2001: Morten J Corydon; Jerry Vockley; Piero Rinaldo; William J Rhead; M Kjeldsen; Vibeke Winter; C Riggs; Dusica Babovic-Vuksanovic; jan smeitink; J De Jong; H Levy; Adrian C Sewell; Charles R Roe; Dietrich Matern; M Dasouki; Niels Gregersen
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
Pediatric research 2001;49(1):18-23.
1999: Ingrid Tein; R H Haslam; William J Rhead; M J Bennett; Lawrence E Becker; Jerry Vockley
Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy.
Neurology 1999;52(2):366-72.
1999: Philip A Wood; C L Kelly-Kurtz; M E Hinsdale; Doug A Hamm; William J Rhead
Lessons learned from the mouse model of short-chain acyl-CoA dehydrogenase deficiency.
Advances in experimental medicine and biology 1999;466():395-402.
1998: Donald M Kurtz; Piero Rinaldo; William J Rhead; Liqun Tian; David S Millington; Jerry Vockley; Doug A Hamm; Amy E Brix; J Russell Lindsey; Carl A Pinkert; W E O'Brien; Philip A Wood
Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(26):15592-7.
1997: Roser Pons; R Carrozzo; Ingrid Tein; Winsome F Walker; Linda J Addonizio; William J Rhead; Armand F Miranda; Salvatore DiMauro; Darryl C De Vivo
Deficient muscle carnitine transport in primary carnitine deficiency.
Pediatric research 1997;42(5):583-7.
1997: C L Kelly; William J Rhead; W K Kutschke; Amy E Brix; Doug A Hamm; Carl A Pinkert; J Russell Lindsey; Philip A Wood
Functional correction of short-chain acyl-CoA dehydrogenase deficiency in transgenic mice: implications for gene therapy of human mitochondrial enzyme deficiencies.
Human molecular genetics 1997;6(9):1451-5.