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ANNETTE FEIGENBAUM, M.D.
M.D.
Medical Biochemical Genetics
NPI: 1902187859Individual
Specialties, Licenses & Credentials
Medical Biochemical GeneticsPrimary
Medical Genetics — Medical Biochemical Genetics
Code: 207SG0207X
C54803(CA)
Research & Publications (20)
Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness.
PMID 16955414·Am J Med Genet A·2006
8-other
Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.
PMID 14699612·Am J Med Genet A·2004
8-other
Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.
PMID 19184109·Hum Genet·2009
5-case
Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.
PMID 19520270·Pediatr Neurol·2009
5-case
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
PMID 19157942·Mol Genet Metab·2009
6-review
A novel mitochondrial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosis.
PMID 19568996·Neuropediatrics·2008
5-case
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency.
PMID 18825706·Liver Transpl·2008
1-meta
Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.
PMID 18848477·J AAPOS·2008
5-case
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.
PMID 18925679·Am J Med Genet A·2008
5-case
Proposal of a set of model polymer additives designed for confocal FRAP diffusion experiments.
PMID 18928296·J Agric Food Chem·2008
8-other
Stepwise developmental regression associated with novel CACNA1A mutation.
PMID 18940563·Pediatr Neurol·2008
5-case
Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.
PMID 17693179·Lancet·2007
3-trial
Sorption of aroma compounds in PET and PVC during the storage of a strawberry syrup.
PMID 17852385·Food Addit Contam·2007
8-other
Contamination of packaged food by substances migrating from a direct-contact plastic layer: Assessment using a generic quantitative household scale methodology.
PMID 17164219·Food Addit Contam·2007
8-other
Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology.
PMID 17620549·Neurology·2007
8-other
A child with an underrecognized form of developmental delay: a congenital disorder of glycosylation.
PMID 17116901·CMAJ·2006
5-case
Inner ear dysplasia is common in children with Down syndrome (trisomy 21).
PMID 17146381·Laryngoscope·2006
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
Via practice · 2 locations total
- Address
- 7920 FROST ST STE 200
SAN DIEGO, CA 92123 - Phone
- (858) 576-1700
Quick Facts
- NPI
- 1902187859
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 2
- Publications
- 20
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