UCSD Rady Childrenandapos;s Hospital San Diego
Pediatrics
Dr. William L. Nyhan Jr., MD
|
|
Give Review
Dr. William L. Nyhan Jr. works in the field of Pediatrics. He graduated from Columbia University College of Physicians & Surgeons. Columbia University College of Physicians & Surgeons is one of the top medical schools in the US. Columbia University College of Physicians & Surgeons is ranked 8 in research and 52 in primary care medicine He received awards:"Elected Member". William Nyhan has written publications. He has 21 publications published with PubMed. The lastest paper is: 'A clinical trial of safety and tolerability for the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease.'
Publications
- A clinical trial of safety and tolerability for the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease.
- Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome.
- Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria.
- Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
- Identification of Novel Mutations in the Human HPRT Gene.
- On being a Doctor... "and describe a disease not previously reported, Lesch--Nyhan disease".
- Lesch-Nyhan Syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA.
- Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.
- Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members.
- Variable expression of HPRT deficiency in 5 members of a family with the same mutation.
- CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
- Fatal initial adult-onset presentation of urea cycle defect.
- Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry.
- Domino liver transplantation in maple syrup urine disease.
- Disorders of purine and pyrimidine metabolism.
- Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.
- Chronic treatment of mitochondrial disease patients with dichloroacetate.
- The role of methionine in ethylmalonic encephalopathy with petechiae.
- Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection.
- Pyruvate carboxylase deficiency--insights from liver transplantation.
Schools
Columbia University College of Physicians And Surgeons
Grace New Haven Community Hospital
University Ill College Med
Doctors Specialties
- Pediatrics
Accepted Insurances
Awards
- Elected Member
Education
-
Yale-New Haven Hospital -
Columbia University College of Physicians & Surgeons
Hospital
-
UC San Diego Health -
Rady Children's Hospital - San Diego
Helpful Reviews
Similar Doctors
|
|
Dr. Erin E. Studer, MD |
|
|
Dr. Beti Nissan, MD |
|
|
Dr. Christian F. Archambault, MD
 This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Amira Baker, MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Amy E. Grimm, MD |
|
|
Dr. Jillian M. Wall, MD |