Professor, Pathology (Clinical), Case Western Reserve University School of Medicine
Medical Genetics
Dr. Marvin R. Natowicz, MD
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Marvin Natowicz is an expert in the field of Medical Genetics. He attended Washington University School of Medicine in St. Louis. Marvin R. Natowicz, MD is a published doctor and has 101 publications published. The lastest was: 'A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new lysosomal disease?' He accepts all Medicare patients.
Publications
- Patterning of regional gene expression in autism: new complexity.
- Cerebrospinal fluid lactate and pyruvate concentrations and their ratio.
- Brain transcriptional and epigenetic associations with autism.
- Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia.
- Serum chitotriosidase activity and Wegener's granulomatosis.
- Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report.
- On treatability: considerations of treatment in the context of newborn screening.
- Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.
- Access to health insurance: experiences and attitudes of those with genetic versus non-genetic medical conditions.
- Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England.
- Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females wit...
- Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.
- Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.
- Lysosomal enzymes in human peripheral blood mononuclear cells and granulocytes.
- Medical privacy and the disclosure of personal medical information: the beliefs and experiences of those with genetic and other clinical conditions.
- Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy.
- Disclosure, confidentiality, and families: experiences and attitudes of those with genetic versus nongenetic medical conditions.
- The use of medical records in research: what do patients want?
- Rapid prenatal testing for human beta-glucuronidase deficiency (MPS VII).
- V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.
- Addressing consumer grievances in medicine: policies and practices of newborn screening programs in the United States.
- The commercialization of clinical genetics: an analysis of interrelations between academic centers and for-profit clinical genetics diagnostics companies.
- Individual, family, and societal dimensions of genetic discrimination: a case study analysis.
- Reply to Hook: genetic discrimination and public safety.
- Reply to Hook and Lowden: the definition and implications of genetic discrimination.
- Marked variation in blood beta-hexosaminidase in Gaucher disease.
- Genetic screening: triumphs, problems, and controversies.
- Diagnosis of alpha-mannosidosis by measuring alpha-mannosidase in plasma.
- Discrimination as a consequence of genetic testing.
- Adult onset lysosomal storage disease in a Tibetan terrier: clinical, morphological and biochemical studies.
- Genetic discrimination and the Americans with Disabilities Act.
- The allure of genetic explanations.
- A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
- Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.
- Genetic discrimination and the law.
- A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
- Enzymatic identification of mannose 6-phosphate on the recognition marker for receptor-mediated pinocytosis of beta-glucuronidase by human fibroblasts.
- A seat at the table: membership in federal advisory committees evaluating public policy in genetics.
- Double outlet right ventricle: aetiologies and associations.
- Analysis of sulfatide and enzymes of sulfatide metabolism.
- Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopo...
- A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new lysosomal disease?
- Heterozygosity for Tay-Sachs and Sandhoff diseases among Massachusetts residents with French Canadian background.
- Public participation in medical policy-making and the status of consumer autonomy: the example of newborn-screening programs in the United States.
- Case of the month. A 3.5-year-old female with developmental delays, hepatomegaly, and coarse facies.
- Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease.
- Plasma hyaluronidase activity in mucolipidoses II and III: marked differences from other lysosomal enzymes.
- Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.
- Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.
- Heterozygote screening for Tay-Sachs disease: past successes and future challenges.
- Identification of glucuronide-conjugated hydroxylated fatty acids in the urine of children with generalized peroxisomal disorder.
- Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.
- Unusual thermolability properties of beta-hexosaminidase: studies of enzyme from cultured cells and clinical implications.
- Characterization of clinical assays for leukocyte and fibroblast alpha-N-acetylgalactosaminidase activities for the diagnosis of alpha-N-acetylgalactosaminidase defici...
- Clinical and biochemical manifestations of hyaluronidase deficiency.
- EEOC compliance manual for the ADA and genetic discrimination.
- Urinary bile acids and peroxisomal bifunctional enzyme deficiency.
- Human serum hyaluronidase: characterization of a clinical assay.
- Glucuronic acid-conjugated dihydroxy fatty acids in the urine of patients with generalized peroxisomal disorders.
- Urine sulfatides and the diagnosis of metachromatic leukodystrophy.
- Unusual thermolability properties of leukocyte beta-hexosaminidase: implications in screening for carriers of Tay-Sachs disease.
- Screening techniques for the detection of inborn errors of bile acid metabolism by direct injection and micro-high performance liquid chromatography-continuous flow/fa...
- Genetic conditions and the scope of the Americans with Disabilities Act.
- Genetic discrimination and the public entities and public accommodations Titles of the Americans with Disabilities Act.
- Unusual biochemical presentation of GM1 gangliosidosis: markedly elevated levels of multiple plasma lysosomal enzyme activities.
- Genetic testing and insurance.
- Abnormal bile acids in the Smith-Lemli-Opitz syndrome.
- Genetic disorders that masquerade as multiple sclerosis.
- Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: clinical and molecular studies.
- Genetic discrimination and screening for hemochromatosis.
- A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.
- Marked heterogeneity in Niemann-Pick disease, type C. Clinical and ultrastructural findings.
- Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.
- Tay-Sachs disease in persons of French-Canadian heritage in northern New England.
- Delayed myelination in infants and young children: radiographic and clinical correlates.
- On establishing the genetic basis of mental disease.
- Late-onset Tay-Sachs disease: adverse effects of medications and implications for treatment.
- Late-onset Tay-Sachs disease presenting as a childhood stutter.
- The C. elegans hyaluronidase: a developmentally significant enzyme with chondroitin-degrading activity at both acidic and neutral pH.
- A rapid method for chromatographic analysis of oligosaccharides on Bio-Gel P-4.
- Fibroblast receptor for lysosomal enzymes mediates pinocytosis of multivalent phosphomannan fragment.
- Rapid separation of anionic oligosaccharide species by high performance liquid chromatography.
- Structural studies of the phosphorylated high mannose-type oligosaccharides on human beta-glucuronidase.
- Metabolic labeling of lutropin with [35S]sulfate.
- Structural studies of the endoglycosidase H-resistant oligosaccharides present on human beta-glucuronidase.
- Recognition and receptor-mediated uptake of phosphorylated high mannose-type oligosaccharides by cultured human fibroblasts.
- Role of the 6-phosphomannosyl-enzyme receptor in intracellular transport and adsorptive pinocytosis of lysosomal enzymes.
- Pharmacokinetic analysis of a case of isopropanol intoxication.
- Association of Turner syndrome with hypoplastic left-heart syndrome.
- Mendelian etiologies of stroke.
- Acute extrapyramidal syndrome in methylmalonic acidemia: "metabolic stroke" involving the globus pallidus.
- Genetic disorders and major extracardiac anomalies associated with the hypoplastic left heart syndrome.
- Aglossia with congenital absence of the mandibular rami and other craniofacial abnormalities.
- Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.
- Digoxin assay anomalies due to digoxin-specific Fab immunotherapy.
- Plasma chitotriosidase in lysosomal storage diseases.
- Adult-onset MLD: a gene mutation with isolated polyneuropathy.
- A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.
- Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
- Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
Schools
Washington Center School of Medicine
Hospital Of The University Of Pennsylvania
Chldns Hospital Of Philadelphia
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Cytogenetics
- Clinical Genetics
- Clinical Molecular Genetics
- Clinical Pathology
- Medical Genetics
Accepted Insurances
- Aetna HMO
- Choice Plus POS II
- Anthem Blue Cross Blue Shield HMO
- Anthem Blue Cross Blue Shield PPO
- Blue Card PPO
- Blue Cross Blue Shield of Illinois PPO
- CareSource
- Cigna PPO
- Open Access Plus
- Commercial Insurance Company
- Frontpath Health Coalition
- Choice Care PPO
- Kaiser Permanente
- Medicaid
- Medical Mutual of Ohio POS
- Medicare MCR
- Molina
- MultiPlan PPO
- PHCS Network PPO
- Mutual of Omaha
- POMCO Group
- Priority Health
- Tricare
- Choice Plus POS
- Navigate HMO
- Navigate POS
- Options PPO
- United Healthcare
Education
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University of Pennsylvania Health System -
Washington University School of Medicine in St. Louis
Hospital
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Cleveland Clinic
Drug Facts
| NPI NUMBER | 1780731687 | |
| NPPES Provider LastName | NATOWICZ | |
| NPPES Provider FirstName | MARVIN | |
| NPPES Provider ZIPCode | 441950001 | |
| NPPES Provider State | OH | |
| Specialty Description | Neurology | |
| Total Claim Count | 29.0 | |
| Distinct Opioid Count | 0.0 | |
| Opioid Claim Count | 0.0 | |
| Percent Opioid Claims | 0.0 |
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1780731687 |
| Last Name Of The Provider | NATOWICZ |
| First Name Of The Provider | MARVIN |
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