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JENNIFER TOONE, M.D.
M.D.
Emergency Medicine Physician
NPI: 1265640908Individual
Specialties, Licenses & Credentials
Emergency Medicine PhysicianPrimary
Emergency Medicine
Code: 207P00000X
MD60084585(WA)
Research & Publications (17)
Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.
PMID 18282470·Clin Biochem·2008
4-observational
Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations.
PMID 16353254·Am J Med Genet A·2006
8-other
Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update.
PMID 15272469·J Inherit Metab Dis·2004
6-review
The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1.
PMID 15110324·Mol Genet Metab·2004
8-other
Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).
PMID 12948742·Mol Genet Metab·2003
8-other
The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.
PMID 12559847·Mol Genet Metab·2003
5-case
Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).
PMID 12126939·Mol Genet Metab·2002
8-other
Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation.
PMID 12035837·Can J Neurol Sci·2002
5-case
Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy).
PMID 11920907·Prenat Diagn·2002
5-case
Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.
PMID 11708860·Mol Genet Metab·2001
5-case
Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).
PMID 11286506·Mol Genet Metab·2001
8-other
Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.
PMID 11139253·Hum Mutat·2001
8-other
Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.
PMID 10873393·Mol Genet Metab·2000
4-observational
Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses.
PMID 10820402·Prenat Diagn·2000
5-case
Incidence of inborn errors of metabolism in British Columbia, 1969-1996.
PMID 10617747·Pediatrics·2000
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
- 325 9TH AVE
SEATTLE, WA 98104 - Phone
- (206) 744-9888
Quick Facts
- NPI
- 1265640908
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 17
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