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SEYMOUR PACKMAN, M.D.
M.D.
NPI: 1972545275Individual
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
G33787(CA)
Clinical Biochemical Genetics Physician
Medical Genetics — Clinical Biochemical Genetics
Code: 207SG0202X
G33787(CA)
Research & Publications (20)
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.
PMID 19218538·Nephrol Dial Transplant·2009
8-other
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
PMID 18979180·J Inherit Metab Dis·2008
8-other
Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male.
PMID 19669271·Hepatol Int·2008
8-other
Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study.
PMID 18312448·Clin Genet·2008
8-other
Psychosocial issues in families affected by maple syrup urine disease.
PMID 17703353·J Genet Couns·2007
8-other
Executive functioning in children and adolescents with phenylketonuria.
PMID 17594394·Clin Genet·2007
8-other
Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease.
PMID 17539908·Clin Genet·2007
3-trial
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial.
PMID 17179052·Ann Intern Med·2007
4-observational
Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).
PMID 16931768·Mol Pharmacol·2006
8-other
Psychological complications of patients with Gaucher disease.
PMID 16601875·J Inherit Metab Dis·2006
8-other
Galactosaemia: early treatment with an elemental formula.
PMID 15877205·J Inherit Metab Dis·2005
5-case
Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle.
PMID 16143021·Clin Genet·2005
5-case
Pediatric malignancies. Case 2. Peripheral T-cell lymphoma in an adolescent with unsuspected Gaucher disease.
PMID 16034056·J Clin Oncol·2005
5-case
Marinesco-Sjögren syndrome in a male with mild dysmorphism.
PMID 15633176·Am J Med Genet A·2005
5-case
Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.
PMID 12872841·J Inherit Metab Dis·2003
8-other
T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease.
PMID 12748094·AJNR Am J Neuroradiol·2003
8-other
Periventricular heterotopia associated with chromosome 5p anomalies.
PMID 12654978·Neurology·2003
5-case
Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency.
PMID 12637287·AJNR Am J Neuroradiol·2003
8-other
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.
PMID 12594532·Hum Genet·2003
5-case
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.
PMID 12585833·Ann Intern Med·2003
6-review
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 533 PARNASSUS AVE
SAN FRANCISCO, CA 94143 - Phone
- (415) 476-2871
Quick Facts
- NPI
- 1972545275
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 2
- Locations
- 1
- Publications
- 20
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