Physician
Neurology
Dr. Raphael Schiffmann, MD
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Dr. Raphael Schiffmann works in the field of Neurology. He has 8 awards "NINDS Merit Award", "Naturalized U.S. Citizen", "Adjustment of immigration status as Alien with Extraordinary Ability in the Sciences", "Certification in Neurology with Special Qualification in Child", "Received Certificate in Pediatrics by the Israeli Board of Pediatrics", "Awarded ECFMG Certificate Nr", "Licensed to Practice Medicine and Surgery, Commonwealth of Virginia" and "Physician Full License in Texas (TMB)". Doctor Raphael Schiffmann, MD is a published doctor and has 50 publications published. The lastest was: 'Molecular basis for globotriaosylceramide regulation and enzyme uptake in immortalized aortic endothelial cells from Fabry mice.'
Publications
- Molecular basis for globotriaosylceramide regulation and enzyme uptake in immortalized aortic endothelial cells from Fabry mice.
- A Systematic Review of The Humanistic Burden of Disease In Patients With Fabry Disease.
- Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
- A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry Disease.
- Blocking hyperactive androgen receptor signaling ameliorates cardiac and renal hypertrophy in Fabry mice.
- The consequences of genetic and pharmacologic reduction in sphingolipid synthesis.
- Changes in plasma and urine globotriaosylceramide levels do not predict Fabry Disease progression over 1 year of agalsidase alfa.
- Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
- Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body Disease.
- More than hypomyelination in Pol-III disorder.
- Adult polyglucosan body Disease: Natural History and Key Magnetic Resonance Imaging Findings.
- CSF N-glycan profiles to investigate biomarkers in brain developmental Disorders: application to leukodystrophies related to eIF2B mutations.
- Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.
- Decision support for diagnosis: co-evolution of tools and resources.
- 4H Syndrome With Late-Onset Growth Hormone Deficiency Caused by POLR3A Mutations.
- Characterization of Transferrin Glycopeptide Structures in Human Cerebrospinal Fluid.
- TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1.
- Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
- Early alterations of brain cellular energy homeostasis in Huntington Disease models.
- Skin ultrastructural findings in type 2 Gaucher Disease: Diagnostic implications.
- Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.
- GnRH-Deficient Phenotypes in Humans and Mice with Heterozygous Variants in KISS1/Kiss1.
- Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
- Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry mice.
- The saccadic and neurological deficits in type 3 Gaucher Disease.
- A pharmacogenetic approach to identify mutant forms of alpha-galactosidase A that respond to a pharmacological chaperone for Fabry Disease.
- Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells.
- Fabry Disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.
- Cerebellar Ataxia with elevated cerebrospinal free sialic acid (CAFSA).
- Invited article: an MRI-based approach to the diagnosis of white matter Disorders.
- Randomized, controlled trial of miglustat in Gaucher's Disease type 3.
- XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
- Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.
- Cognitive outcome in treated patients with chronic neuronopathic Gaucher Disease.
- Enzyme replacement in Fabry Disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents.
- Cellular and tissue localization of globotriaosylceramide in Fabry Disease.
- Establishment and characterization of Fabry Disease endothelial cells with an extended lifespan.
- Screening for pharmacological chaperones in Fabry Disease.
- Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry Disease who are on long-term biweekly dosing.
- Cellular and tissue distribution of intravenously administered agalsidase alfa.
- Childhood Ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis.
- Pathological findings in a patient with Fabry Disease who died after 2.5 years of enzyme replacement.
- Quantitative dysmorphology assessment in Fabry Disease.
- Long-term therapy with agalsidase alfa for Fabry Disease: safety and effects on renal function in a home infusion setting.
- Fabry's Disease--an important risk factor for stroke.
- Improved intracellular delivery of glucocerebrosidase mediated by the HIV-1 TAT protein transduction domain.
- Pediatric Fabry Disease.
- Fabry Disease.
- HIV Tat Domain Improves Cross-correction of Human Galactocerebrosidase in a Gene- and Flanking Sequence-dependent Manner.
Conditions Treated
- Ataxia
- Fabry's Disease
- Peripheral Nerve Disorders
Doctors Specialties
- Pediatric Neurology
- Neurology
Accepted Insurances
Awards
- NINDS Merit Award
- Naturalized U.S. Citizen
- Adjustment of immigration status as Alien with Extraordinary Ability in the Sciences
- Certification in Neurology with Special Qualification in Child
- Received Certificate in Pediatrics by the Israeli Board of Pediatrics
- Awarded ECFMG Certificate Nr
- Licensed to Practice Medicine and Surgery, Commonwealth of Virginia
- Physician Full License in Texas (TMB)
Education
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Duke University -
Tufts Medical Center -
Boston University Medical Center -
Universite de L'Etat a Liege Faculty of Medicine
Hospital
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Children's Health System of Texas -
Baylor University Medical Center
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