Back to Search
WILLIAM NYHAN, M.D., PH.D.
M.D., PH.D.
Pediatrics Physician
NPI: 1710041462Individual
Specialties, Licenses & Credentials
Pediatrics PhysicianPrimary
Pediatrics
Code: 208000000X
C30911(CA)
Research & Publications (20)
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
PMID 18550408·Mol Genet Metab·2008
5-case
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency.
PMID 19357990·J Inherit Metab Dis·2009
5-case
Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver.
PMID 12111189·Eur J Pediatr·2002
5-case
The effects of alanine ingestion on metabolic responses to exercise in cyclists.
PMID 18850309·Amino Acids·2009
2-rct
'Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up'.
PMID 18811705·Dev Med Child Neurol·2008
5-case
Variable expression of HPRT deficiency in 5 members of a family with the same mutation.
PMID 18779430·Arch Neurol·2008
5-case
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome.
PMID 16680273·Saudi Med J·2006
5-case
Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry.
PMID 16613999·Clin Chem·2006
8-other
Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines.
PMID 15935074·J Neurochem·2005
4-observational
Behavioral aspects of Lesch-Nyhan disease and its variants.
PMID 16174310·Dev Med Child Neurol·2005
8-other
Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.
PMID 15862283·Mol Genet Metab·2005
5-case
The spectrum of mutations causing HPRT deficiency: an update.
PMID 15571220·Nucleosides Nucleotides Nucleic Acids·2004
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 7910 FROST ST, STE 200
SAN DIEGO, CA 92123 - Phone
- (619) 543-7800
Quick Facts
- NPI
- 1710041462
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
Are you this provider?
Claim Your Profile