William J. Rhead

Pediatrics

1500 Highland Ave
Madison, WI 53705

Last Updated: 09/26/2026

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Found 20 publications

Identification of Urine Organic Acids for the Detection of Inborn Errors of Metabolism Using Urease and Gas Chromatography-Mass Spectrometry (GC/MS).

Identification of Urine Organic Acids for the Detection of Inborn Errors of Metabolism Using Urease and Gas Chromatography-Mass Spectrometry (GC/MS).

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

Published: September 20, 2022

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.

Journal: Molecular genetics and metabolism

Published: May 01, 2019

Characteristic Pulvinar Sign in Pseudo-α-galactosidase Deficiency Syndrome.

Characteristic Pulvinar Sign in Pseudo-α-galactosidase Deficiency Syndrome.

Journal: JAMA neurology

Published: June 21, 2016

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Journal: Nature genetics

Published: April 04, 2016

Glutamine and hyperammonemic crises in patients with urea cycle disorders.

Glutamine and hyperammonemic crises in patients with urea cycle disorders.

Journal: Molecular genetics and metabolism

Published: September 21, 2015

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.

Journal: Molecular genetics and metabolism

Published: August 02, 2015

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.

Journal: Molecular genetics and metabolism

Published: March 10, 2015

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Journal: American journal of medical genetics. Part A

Published: November 10, 2014

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 13, 2014

Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.

Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.

Journal: Molecular genetics and metabolism

Published: January 14, 2014

Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio.

Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio.

Journal: Molecular genetics and metabolism

Published: September 26, 2013

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

Journal: Clinical genetics

Published: May 23, 2013

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Last Updated: 09/26/2026