prof. of pediatrics and pathology, medical college of wisconsin
Medical Genetics
Dr. William Rhead, MD
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William Rhead, MD practices Medical Genetics. He graduated from University of California San Diego School of Medicine. University of California San Diego School of Medicine is ranked 17/19 in Research/PrimaryCare. He has 1 awards "Regional Top Doctor". William Rhead is also a published physician. He has 101 publication published. The most recent publication is: Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. William Rhead is registered with Medicare and accepts Medicare payments.
Publications
- Glutamine and hyperammonemic crises in patients with urea cycle disorders.
- Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
- Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes.
- 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 th...
- Population pharmacokinetic modeling and dosing simulations of nitrogen-scavenging compounds: disposition of glycerol phenylbutyrate and sodium phenylbutyrate in adult ...
- Novel B3GALTL mutations in classic Peters Plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.
- Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.
- Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
- Pancreatic insufficiency in Toriello-Carey syndrome: Report of a second patient.
- Evaluation of liver fatty acid oxidation in the leptin-deficient obese mouse.
- Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.
- 2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen.
- ''Classical'' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using ...
- Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
- Urea cycle disorders: clinical presentation outside the newborn period.
- Genetic counseling issues in urea cycle disorders.
- Nutritional management of urea cycle disorders.
- Considerations in the difficult-to-manage urea cycle disorder patient.
- Unmasked adult-onset urea cycle disorders in the critical care setting.
- Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study.
- The call from the newborn screening laboratory: frustration in the afternoon.
- Genitopatellar syndrome: expanding the phenotype.
- Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.
- Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control.
- Identification of urine organic acids for the detection of inborn errors of metabolism using urease and gas chromatography-mass spectrometry (GC-MS).
- National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening usi...
- Agalsidase alfa and kidney dysfunction in Fabry disease.
- Creating genetics-based infusion centers: a case study of two models.
- Rescue from neonatal death in the murine model of hereditary tyrosinemia by glutathione monoethylester and vitamin C treatment.
- Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome.
- Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.
- Ammonia control in children with urea cycle disorders (UCDs); phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate.
- Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.
- Tetrahydrobiopterin deficiency in human rabies.
- Phenylketonuria in adulthood: a collaborative study.
- Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the m...
- Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
- US newborn screening system guidelines II: follow-up of children, diagnosis, management, and evaluation. Statement of the Council of Regional Networks for Genetic Serv...
- Lessons learned from the mouse model of short-chain acyl-CoA dehydrogenase deficiency.
- Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case finding.
- Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy.
- Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation.
- Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities.
- Analysis of carnitine esters by radio-high performance liquid chromatography in cultured skin fibroblasts from patients with mitochondrial fatty acid oxidation disorders.
- Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
- Deficient muscle carnitine transport in primary carnitine deficiency.
- Functional correction of short-chain acyl-CoA dehydrogenase deficiency in transgenic mice: implications for gene therapy of human mitochondrial enzyme deficiencies.
- Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
- Prenatal ultrasound findings in hydrolethalus: continuing difficulties in diagnosis.
- A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase.
- Multiple acyl-coenzyme A dehydrogenation disorder responsive to riboflavin: substrate oxidation, flavin metabolism, and flavoenzyme activities in fibroblasts.
- Transient improvement of congenital lactic acidosis in a male infant with pyruvate decarboxylase deficiency treated with dichloroacetate.
- Evidence for intermediate channeling in mitochondrial beta-oxidation.
- Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.
- Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients.
- Formation of a novel arachidonic acid metabolite in peroxisomes.
- Glutaric aciduria type II: in vitro studies on substrate oxidation, acyl-CoA dehydrogenases, and electron-transferring flavoprotein in cultured skin fibroblasts.
- Novel tritium release assays for isovaleryl-CoA and butyryl-CoA dehydrogenases.
- Isovaleryl-CoA dehydrogenase: demonstration in rat liver mitochondria by ion exchange chromatography and isoelectric focusing.
- Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia.
- Dicarboxylic aciduria: deficient [1-14C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts.
- Fatal infantile cardiac glycogenosis without acid maltase deficiency presenting as congenital hydrops.
- Abetalipoproteinemia. Report of an unusual patient.
- Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic--adipic aciduria.
- An intraoral nighttime feeding attachment for patients with glycogen storage disease, types I and III.
- Risks of long-term ascorbic acid overdosage.
- Interpretation of the methylene blue reduction test of human plasma and the possible cancer protecting effect of selenium.
- Vitamin E, selenium, and the sudden infant death syndrome.
- Letter: Determinants of ascorbic acid levels.
- Letter: Sudden infant deaths and deficiencies in diet.
- Letter: Sudden death in infancy and vitamin E deficiency.
- Ascorbic acid abuse: effects on long term ingestion of excessive amounts on blood levels and urinary excretion.
- The selenium catalyzed reduction of methylene blue by thiols.
- Selenium in human plasma: levels in blood proteins and behavior upon dialysis, acidification, and reduction.
- 14C-labeled substrate catabolism by human diploid fibroblasts derived from infants and adults.
- Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.
- Multiple congenital anomalies syndrome with myopathy in chromosome 16 abnormality.
- Complementation analysis of fatty acid oxidation disorders.
- Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.
- The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A...
- Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segment.
- Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders.
- Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients.
- Long-chain acyl-coenzyme A dehydrogenase deficiency: biochemical studies in fibroblasts from three patients.
- Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.
- L-pipecolic acid oxidation in the rabbit and cynomolgus monkey. Evidence for differing organellar locations and cofactor requirements in each species.
- Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship.
- Peroxisomal L-pipecolic acid oxidation is deficient in liver from Zellweger syndrome patients.
- Purified U5 small nuclear ribonucleoprotein can relieve the inhibition of spliceosome assembly and splicing by snRNP-free nuclear proteins.
- Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
- A murine model for short-chain acyl-CoA dehydrogenase deficiency.
- Juvenile multiple sclerosis-like episodes associated with a defect of mitochondrial beta oxidation.
- Riboflavin responsive glutaric aciduria type II.
- Screening for inborn errors of fatty acid oxidation in cultured fibroblasts: an overview.
- Defect in fatty acid oxidation: laboratory and pathologic findings in a patient.
- Species variation in organellar location and activity of L-pipecolic acid oxidation in mammals.
- Inborn errors of fatty acid oxidation in man.
- A case of glutaric acidemia type II (severe multiple acyl-CoA dehydrogenation disorder) with subsequent prenatal exclusion in a sibling.
- The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene.
- An atypical case of cytochrome c oxidase deficiency with biochemical heterogeneity in fibroblasts.
Schools
University Of California
University Nc School Med
Memorial Hospital
Yale University
Doctors Specialties
- Medical Genetics
- Pediatrics
Accepted Insurances
Awards
- Regional Top Doctor
Education
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University of North Carolina Hospitals -
University of California San Diego School of Medicine
Hospital
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Children's Hospital of Wisconsin
Drug Facts
| NPI NUMBER | 1861445512 | |
| NPPES Provider LastName | RHEAD | |
| NPPES Provider FirstName | WILLIAM | |
| NPPES Provider ZIPCode | 532264874 | |
| NPPES Provider State | WI | |
| Specialty Description | Pediatric Medicine | |
| Total Claim Count | 36.0 | |
| Distinct Opioid Count | 0.0 | |
| Opioid Claim Count | 0.0 | |
| Percent Opioid Claims | 0.0 |
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1861445512 |
| Last Name Of The Provider | RHEAD |
| First Name Of The Provider | WILLIAM |
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