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ELLEN SIDRANSKY, M.D.
M.D.
NPI: 1467756585Individual
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
MD17189(DC)
Research & Publications (20)
Dosing enzyme replacement therapy for Gaucher disease: older, but are we wiser?
PMID 19265747·Genet Med·2009
8-other
Therapy for Gaucher disease: don't stop thinking about tomorrow.
PMID 17084653·Mol Genet Metab·2007
6-review
Heterozygosity for a Mendelian disorder as a risk factor for complex disease.
PMID 16965318·Clin Genet·2006
6-review
A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.
PMID 15024629·J Hum Genet·2004
4-observational
Glucocerebrosidase mutation H255Q appears to be exclusively in cis with D409H: structural implications.
PMID 19459886·Clin Genet·2009
8-other
The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism.
PMID 19425057·Mov Disord·2009
6-review
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal.
PMID 18160183·Neurobiol Aging·2009
8-other
A new resorufin-based alpha-glucosidase assay for high-throughput screening.
PMID 19371716·Anal Biochem·2009
8-other
Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase.
PMID 19521690·Anal Bioanal Chem·2009
8-other
The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease.
PMID 18541817·Arch Neurol·2008
8-other
Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease.
PMID 18571543·J Pediatr·2008
8-other
Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3.
PMID 18347322·Neurology·2008
5-case
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.
PMID 18852351·Arch Neurol·2008
8-other
Optimization and validation of two miniaturized glucocerebrosidase enzyme assays for high throughput screening.
PMID 19075603·Comb Chem High Throughput Screen·2008
4-observational
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.
PMID 18332251·Arch Neurol·2008
4-observational
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
PMID 18338393·Hum Mutat·2008
6-review
Treating patients with Gaucher disease and parkinsonism: misrepresentation in a title.
PMID 17350320·Parkinsonism Relat Disord·2008
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
- 351A213 CONVENT DR
BETHESDA, MD 20892 - Phone
- (301) 451-0901
Quick Facts
- NPI
- 1467756585
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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