1 to 10 of 15 literature results

• 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.

  BACKGROUND: Almost all newborns in the US are screened at birth for multiple inborn errors of metabolism using tandem mass spectrometry. Screening tes…

  Authors: Dennis J Dietzen, Piero Rinaldo, Ronald J Whitley, William J Rhead, W Harry Hannon, Uttam C Garg, Stanley F Lo, Michael J Bennett

  Source: Clinical chemistry. 2009 Sep

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• Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.

  As judged by tandem mass spectrometry blood spot screening, the incidence of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is 1:14 600 (CI 95%…

  Authors: William J Rhead

  Source: Journal of inherited metabolic disease. 2006 Apr-Jun

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• Rescue from neonatal death in the murine model of hereditary tyrosinemia by glutathione monoethylester and vitamin C treatment.

  Hereditary tyrosinemia type 1 (HT1) is a recessive disease caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH) that catalyzes the…

  Authors: Chantale Langlois, Rossana Jorquera, Diana Orejuela, Anne Bergeron, Milton J Finegold, William J Rhead, Robert M Tanguay

  Source: Molecular genetics and metabolism. 2008 Mar

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• The call from the newborn screening laboratory: frustration in the afternoon.

  Newborn screening programs in the United States are evolving in concert with technologic advances in analytic chemistry and medicine. Many more disord…

  Authors: William J Rhead, Mira Irons

  Source: Pediatric clinics of North America. 2004 Jun

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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).

  A patient suspected of an inborn error of metabolism will commonly have urine organic acid analysis performed as part of their workup. The traditional…

  Authors: Stanley F Lo, Velta Young, William J Rhead

  Source: Methods in molecular biology (Clifton, N.J.). 2010

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• Nutritional management of urea cycle disorders.

  Nutritional management of patients who have urea cycle disorders is one of the most challenging tasks in clinical nutrition. The degree to which prote…

  Authors: Rani H Singh, William J Rhead, Wendy Smith, Brendan Lee, Lisa Sniderman King, Marshall Summar

  Source: Critical care clinics. 2005 Oct

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• Genetic counseling issues in urea cycle disorders.

  The goal of counseling families that have a urea cycle disorder (UCD) is to facilitate the process of scientific understanding, emotional acceptance, …

  Authors: Lisa Sniderman King, Rani H Singh, William J Rhead, Wendy Smith, Brendan Lee, Marshall L Summar

  Source: Critical care clinics. 2005 Oct

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• Urea cycle disorders: clinical presentation outside the newborn period.

  Although most commonly associated with infancy, the majority of individuals with urea cycle disorders (UCDs) present outside the neonatal period, freq…

  Authors: Wendy Smith, Priya S Kishnani, Brendan Lee, Rani H Singh, William J Rhead, Lisa Sniderman King, Michael Smith, Marshall Summar

  Source: Critical care clinics. 2005 Oct

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• Considerations in the difficult-to-manage urea cycle disorder patient.

  Today, patients with urea cycle disorder (UCD) may survive well beyond infancy. The goal of keeping them in consistent nitrogen balance can be undermi…

  Authors: Brendan Lee, Rani H Singh, William J Rhead, Lisa Sniderman King, Wendy Smith, Marshall L Summar

  Source: Critical care clinics. 2005 Oct

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• Unmasked adult-onset urea cycle disorders in the critical care setting.

  Most often, urea cycle disorders have been described as acute onset hyperammonemia in the newborn period; however, there is a growing awareness that u…

  Authors: Marshall L Summar, Frederick Barr, Sheila Dawling, Wendy Smith, Brendan Lee, Rani H Singh, William J Rhead, Lisa Sniderman King, Brian W Christman

  Source: Critical care clinics. 2005 Oct

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