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RICARD STEINFELD, M.D.
M.D.
Ph.D. Medical Genetics
NPI: 1669525564Individual
Specialties, Licenses & Credentials
Ph.D. Medical GeneticsPrimary
Medical Genetics, Ph.D. Medical Genetics
Code: 170100000X
MA021362(NJ)
Research & Publications (20)
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
PMID 19525954·Nat Genet·2009
8-other
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.
PMID 19479962·Hum Mutat·2009
6-review
Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.
PMID 19038966·J Biol Chem·2009
8-other
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
PMID 18157819·Hum Mutat·2008
8-other
Detection of tripeptidyl peptidase I activity in living cells by fluorogenic substrates.
PMID 16782851·J Histochem Cytochem·2006
7-preclinical
Cathepsin D deficiency is associated with a human neurodegenerative disorder.
PMID 16685649·Am J Hum Genet·2006
5-case
Conversion and validation of the Teen-Addiction Severity Index (T-ASI) for Internet and automated-telephone self-report administration.
PMID 15783278·Psychol Addict Behav·2005
8-other
Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.
PMID 15706348·EMBO J·2005
7-preclinical
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
PMID 15317752·Hum Mol Genet·2004
7-preclinical
Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria.
PMID 15303001·J Inherit Metab Dis·2004
5-case
Validation of the Addiction Severity Index (ASI) for internet and automated telephone self-report administration.
PMID 15182889·J Subst Abuse Treat·2004
8-other
Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency.
PMID 15028668·Hum Mol Genet·2004
7-preclinical
Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.
PMID 14736728·Glycobiology·2004
8-other
The Advanced Immunization Management (AIM) e-Learning Project.
PMID 14728304·AMIA Annu Symp Proc·2003
8-other
Infantile cobalamin deficiency with cerebral lactate accumulation and sustained choline depletion.
PMID 14598232·Neuropediatrics·2003
5-case
A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.
PMID 12836060·Amino Acids·2003
8-other
Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency.
PMID 12655554·Hum Mutat·2003
8-other
Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots.
PMID 12600970·Clin Chem·2003
8-other
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
PMID 12376936·Am J Med Genet·2002
8-other
Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.
PMID 12174822·Eur J Pediatr·2002
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 1812 OAK TREE RD
EDISON, NJ 08820 - Phone
- (732) 548-0070
Quick Facts
- NPI
- 1669525564
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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