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RAPHAEL SCHIFFMANN, M.D.
M.D.
Neurology with Special Qualifications in Child Neurology Physician
NPI: 1700037603IndividualAccepts Medicare
Specialties, Licenses & Credentials
Neurology with Special Qualifications in Child Neurology PhysicianPrimary
Psychiatry & Neurology — Neurology with Special Qualifications in Child Neurology
Code: 2084N0402X
N1441(TX)
CMS Specialties
PrimaryNEUROLOGY
Education
OTHER
Class of 1980
Research & Publications (20)
Invited article: an MRI-based approach to the diagnosis of white matter disorders.
PMID 19237705·Neurology·2009
8-other
Management of neuronopathic Gaucher disease: revised recommendations.
PMID 19655269·J Inherit Metab Dis·2009
6-review
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.
PMID 19218538·Nephrol Dial Transplant·2009
8-other
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).
PMID 19153153·Brain·2009
4-observational
Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19.
PMID 19133694·Am J Med Genet A·2009
5-case
Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease.
PMID 19169844·J Inherit Metab Dis·2009
8-other
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
PMID 18955168·DNA Repair (Amst)·2009
5-case
Falsely elevated urinary Gb3 (globotriaosylceramide, CTH, GL3).
PMID 19243984·Mol Genet Metab·2009
8-other
Time series proteome profiling to study endoplasmic reticulum stress response.
PMID 18435558·J Proteome Res·2008
8-other
Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3.
PMID 18347322·Neurology·2008
5-case
Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease.
PMID 18339188·Acta Paediatr·2008
8-other
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.
PMID 18698230·Pharmacogenet Genomics·2008
8-other
Randomized, controlled trial of miglustat in Gaucher's disease type 3.
PMID 19067373·Ann Neurol·2008
3-trial
Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder.
PMID 18519871·Neurology·2008
4-observational
Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease.
PMID 18571543·J Pediatr·2008
8-other
Skin-impedance in Fabry Disease: a prospective, controlled, non-randomized clinical study.
PMID 18990229·BMC Neurol·2008
2-rct
Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells.
PMID 18707907·Mol Genet Metab·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
- 3600 GASTON AVE, SUITE 1155
DALLAS, TX 75246 - Phone
- (214) 820-4688
Quick Facts
- NPI
- 1700037603
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Accepted
- Specialties
- 1
- Locations
- 1
- Years in Practice
- 46
- Publications
- 20
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