Back to Search
ROBERT DESNICK, PH.D., M.D.
PH.D., M.D.
Clinical Genetics (M.D.) Physician
NPI: 1861460859Individual
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
130912(NY)
Research & Publications (20)
Fabry disease: clinical spectrum and evidence-based enzyme replacement therapy.
PMID 17373219·Nephrol Ther·2006
8-other
Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval.
PMID 15268683·Expert Opin Biol Ther·2004
4-observational
Enzyme replacement and enhancement therapies for lysosomal diseases.
PMID 15190196·J Inherit Metab Dis·2004
6-review
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.
PMID 12585833·Ann Intern Med·2003
6-review
Congenital erythropoietic porphyria: advances in pathogenesis and treatment.
PMID 12060112·Br J Haematol·2002
6-review
Enzyme replacement and enhancement therapies: lessons from lysosomal disorders.
PMID 12459725·Nat Rev Genet·2002
6-review
Enzyme replacement therapy for Fabry disease, an inherited nephropathy.
PMID 11837797·Clin Nephrol·2002
6-review
Fabry disease: clinical features and recent advances in enzyme replacement therapy.
PMID 11692469·Adv Nephrol Necker Hosp·2001
6-review
Fabry disease (alpha-galactosidase A deficiency): renal involvement and enzyme replacement therapy.
PMID 11688379·Contrib Nephrol·2001
6-review
Summary of the Association of Professors of Human and Medical Genetics Fourth Annual Workshop.
PMID 10607959·Am J Med Genet·2000
8-other
CYP2C9*8 is prevalent among African-Americans: implications for pharmacogenetic dosing.
PMID 19663669·Pharmacogenomics·2009
8-other
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
PMID 19387866·J Inherit Metab Dis·2009
4-observational
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).
PMID 19621417·Hum Mutat·2009
8-other
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.
PMID 19218538·Nephrol Dial Transplant·2009
8-other
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.
PMID 18625664·Pediatrics·2008
8-other
Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations.
PMID 18252229·Am J Hum Genet·2008
4-observational
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 1 GUSTAVE L LEVY PL, BOX 1498
NEW YORK, NY 10029 - Phone
- (212) 659-6700
Quick Facts
- NPI
- 1861460859
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
Are you this provider?
Claim Your Profile