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Marvin Natowicz
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8
Triggs-Raine, Barbara
5
Kass, Nancy
4
Faden, Ruth
4
Plantinga, Laura
4
Gostin, Lawrence
4
Hull, Sara Chandros
3
Isman, Ferruh
3
Beckwith, Jonathan R.
2
Huizing, Marjan
2
Orvisky, Eduard
2
Warshawsky, Ilka
2
Akerman, BR
2
Slutsman, Julia
2
Felice, Kevin
2
Gahl, William
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Geonetwork of Marvin Natowicz (preview)
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All Publications
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2009: Natowicz Marvin R; Zuckerman Shlomit
On treatability: considerations of treatment in the context of newborn screening.
Health matrix (Cleveland, Ohio : 1991) 2009;19(1):187-97.
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2008: Isman Ferruh; Hobert Judith A; Thompson Jerry N; Natowicz Marvin R
Plasma chitotriosidase in lysosomal storage diseases.
Clinica chimica acta; international journal of clinical chemistry 2008;387(1-2):165-7.
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2008: Weissman Jacqueline R; Kelley Richard I; Bauman Margaret L; Cohen Bruce H; Murray Katherine F; Mitchell Rebecca L; Kern Rebecca L; Natowicz Marvin R
Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.
PloS one 2008;3(11):e3815.
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2007: Kass Nancy E; Medley Amy M; Natowicz Marvin R; Hull Sara Chandros; Faden Ruth R; Plantinga Laura; Gostin Lawrence O
Access to health insurance: experiences and attitudes of those with genetic versus non-genetic medical conditions.
American journal of medical genetics. Part A 2007;143(7):707-17.
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2007: Martin Dianna C; Mark Brian L; Triggs-Raine Barbara L; Natowicz Marvin R
Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England.
Clinical chemistry 2007;53(3):392-8.
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2006: Warshawsky Ilka; Chernova Olga B; Hübner Christian A; Stindl Reinhard; Henneke Marco; Gal Andreas; Natowicz Marvin R
Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease.
Clinical chemistry 2006;52(7):1267-75.
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2006: Friedman Jennifer R L; Thiele Elizabeth A; Wang Dong; Levine Kara B; Cloherty Erin K; Pfeifer Heidi H; De Vivo Darryl C; Carruthers Anthony; Natowicz Marvin R
Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.
Movement disorders : official journal of the Movement Disorder Society 2006;21(2):241-5.
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2005: Natowicz Marvin
Newborn screening--setting evidence-based policy for protection.
The New England journal of medicine 2005;353(9):867-70.
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2005: Warshawsky Ilka; Rudick Richard A; Staugaitis Susan M; Natowicz Marvin R
Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.
Annals of neurology 2005;58(3):470-3.
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2005: Isman Ferruh; Palomaki Glenn E; Natowicz Marvin R
Lysosomal enzymes in human peripheral blood mononuclear cells and granulocytes.
Clinical chemistry 2005;51(3):646-9.
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2005: Johnson Summer; Kass Nancy E; Natowicz Marvin
Disclosure of personal medical information: differences among parents and affected adults for genetic and nongenetic conditions.
Genetic testing 2005;9(3):269-80.
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2004: Kass Nancy E; Hull Sara Chandros; Natowicz Marvin R; Faden Ruth R; Plantinga Laura; Gostin Lawrence O; Slutsman Julia
Medical privacy and the disclosure of personal medical information: the beliefs and experiences of those with genetic and other clinical conditions.
American journal of medical genetics. Part A 2004;128A(3):261-70.
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2004: Whitaker Charles H; Felice Kevin J; Natowicz Marvin
Biopsy-proven alpha-glucosidase deficiency with normal lymphocyte enzyme activity.
Muscle & nerve 2004;29(3):440-2.
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2004: Branda Kelly Johnston; Tomczak Jerzy; Natowicz Marvin R
Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy.
Genetic testing 2004;8(2):174-80.
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2003: Kleta Robert; Aughton David J; Rivkin Michael J; Huizing Marjan; Strovel Erin; Anikster Yair; Orvisky Eduard; Natowicz Marvin; Krasnewich Donna; Gahl William A
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
American journal of medical genetics. Part A 2003;120A(1):28-33.
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2003: Martin Rick A; Slaugh Rachel; Natowicz Marvin; Pearlman Kayla; Orvisky Eduard; Krasnewich Donna; Kleta Robert; Huizing Marjan; Gahl William A
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
American journal of medical genetics. Part A 2003;120A(1):23-7.
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2003: Plantinga Laura; Natowicz Marvin R; Kass Nancy E; Hull Sara Chandros; Gostin Lawrence O; Faden Ruth R
Disclosure, confidentiality, and families: experiences and attitudes of those with genetic versus nongenetic medical conditions.
American journal of medical genetics. Part C, Seminars in medical genetics 2003;119C(1):51-9.
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2003: Natowicz Marvin R; Isman Ferruh; Prence Elizabeth M; Cedrone Patricia; Allen Jean J
Rapid prenatal testing for human beta-glucuronidase deficiency (MPS VII).
Genetic testing 2003;7(3):241-3.
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2003: Kass Nancy E; Natowicz Marvin R; Hull Sara Chandros; Faden Ruth R; Plantinga Laura; Gostin Lawrence O; Slutsman Julia
The use of medical records in research: what do patients want?
The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2003;31(3):429-33.
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2002: Pind Steven; Slominski Elzbieta; Mauthe Jill; Pearlman Kayla; Swoboda Kathryn J; Wilkins John A; Sauder Patricia; Natowicz Marvin R
V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.
The Journal of biological chemistry 2002;277(9):7136-43.
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2002: Natowicz Marvin R; Hiller Elaine H
Addressing consumer grievances in medicine: policies and practices of newborn screening programs in the United States.
Genetic testing 2002;6(1):31-8.
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2001: Ard C F; Natowicz M R
A seat at the table: membership in federal advisory committees evaluating public policy in genetics.
American journal of public health 2001;91(5):787-90.
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2000: Felice K J; Gomez Lira M; Natowicz M; Grunnet M L; Tsongalis G J; Sima A A; Kaplan R F
Adult-onset MLD: a gene mutation with isolated polyneuropathy.
Neurology 2000;55(7):1036-9.
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1999: Triggs-Raine B; Salo T J; Zhang H; Wicklow B A; Natowicz M R
Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(11):6296-300.
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1997: Natowicz Marvin R; Ard Catherine
The commercialization of clinical genetics: an analysis of interrelations between academic centers and for-profit clinical genetics diagnostics companies.
Journal of genetic counseling 1997;6(3):337-55.
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1997: Hiller E H; Landenburger G; Natowicz M R
Public participation in medical policy-making and the status of consumer autonomy: the example of newborn-screening programs in the United States.
American journal of public health 1997;87(8):1280-8.
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1997: Prence E M; Jerome C A; Triggs-Raine B L; Natowicz M R
Heterozygosity for Tay-Sachs and Sandhoff diseases among Massachusetts residents with French Canadian background.
Journal of medical screening 1997;4(3):133-6.
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1996: Natowicz M R; Prence E M
Heterozygote screening for Tay-Sachs disease: past successes and future challenges.
Current opinion in pediatrics 1996;8(6):625-9.
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1996: Prence E M; Zalewski I; Natowicz M R
Unusual thermolability properties of beta-hexosaminidase: studies of enzyme from cultured cells and clinical implications.
American journal of medical genetics 1996;65(4):320-4.
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1996: van Bael M; Natowicz M R; Tomczak J; Grebner E E; Prence E M
Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.
Journal of medical genetics 1996;33(10):829-32.
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1996: Natowicz M R; Short M P; Wang Y; Dickersin G R; Gebhardt M C; Rosenthal D I; Sims K B; Rosenberg A E
Clinical and biochemical manifestations of hyaluronidase deficiency.
The New England journal of medicine 1996;335(14):1029-33.
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1996: Prence E M; Gleason J; Natowicz M R
Characterization of clinical assays for leukocyte and fibroblast alpha-N-acetylgalactosaminidase activities for the diagnosis of alpha-N-acetylgalactosaminidase deficiency.
Clinica chimica acta; international journal of clinical chemistry 1996;247(1-2):167-73.
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1996: Natowicz M R; Wang Y
Human serum hyaluronidase: characterization of a clinical assay.
Clinica chimica acta; international journal of clinical chemistry 1996;245(1):1-6.
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1996: Natowicz M R; Prence E M; Chaturvedi P; Newburg D S
Urine sulfatides and the diagnosis of metachromatic leukodystrophy.
Clinical chemistry 1996;42(2):232-8.
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1996: Geller Lisa N; Alper Joseph S; Billings Paul R; Barash Carol I; Beckwith Jonathan; Natowicz Marvin R
Individual, family, and societal dimensions of genetic discrimination: a case study analysis.
Science and engineering ethics 1996;2(1):71-88.
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1996: Alper J S; Alper J K; Natowicz M R
EEOC compliance manual for the ADA and genetic discrimination.
American journal of medical genetics 1996;61(1):95.
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1995: Natowicz M R; Stoler J M; Prence E M; Liscum L
Marked heterogeneity in Niemann-Pick disease, type C. Clinical and ultrastructural findings.
Clinical pediatrics 1995;34(4):190-7.
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1995: Triggs-Raine B; Richard M; Wasel N; Prence E M; Natowicz M R
Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.
American journal of human genetics 1995;56(4):870-9.
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1994: Natowicz M R; Evans J E
Abnormal bile acids in the Smith-Lemli-Opitz syndrome.
American journal of medical genetics 1994;50(4):364-7.
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1994: Natowicz M R; Bejjani B
Genetic disorders that masquerade as multiple sclerosis.
American journal of medical genetics 1994;49(2):149-69.
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1994: Alper J S; Geller L N; Barash C I; Billings P R; Laden V; Natowicz M R
Genetic discrimination and screening for hemochromatosis.
Journal of public health policy 1994;15(3):345-58.
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1993: Cao Z; Natowicz M R; Kaback M M; Lim-Steele J S; Prence E M; Brown D; Chabot T; Triggs-Raine B L
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.
American journal of human genetics 1993;53(6):1198-205.
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1993: Alper J S; Natowicz M R
On establishing the genetic basis of mental disease.
Trends in neurosciences 1993;16(10):387-9.
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1993: Prence E M; Natowicz M R; Zalewski I
Unusual thermolability properties of leukocyte beta-hexosaminidase: implications in screening for carriers of Tay-Sachs disease.
Clinical chemistry 1993;39(9):1811-4.
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1993: Natowicz M R; Alper J K; Alper J S
Genetic conditions and the scope of the Americans with Disabilities Act.
American journal of human genetics 1993;53(2):534-5.
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1993: Alper J S; Natowicz M R
Genetic discrimination and the public entities and public accommodations Titles of the Americans with Disabilities Act.
American journal of human genetics 1993;53(1):26-32.
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1993: Prence E M; Natowicz M R
Unusual biochemical presentation of GM1 gangliosidosis: markedly elevated levels of multiple plasma lysosomal enzyme activities.
Journal of inherited metabolic disease 1993;16(5):897-8.
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1992: Fernandes M; Kaplan F; Natowicz M; Prence E; Kolodny E; Kaback M; Hechtman P
A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.
Human molecular genetics 1992;1(9):759-61.
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1992: Billings Paul R; Alper Joseph S; Beckwith Jon; Barash Carol I; Natowicz Marvin R
Reply to Hook and Lowden: the definition and implications of genetic discrimination.
American journal of human genetics 1992;51(4):903-5.
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1992: Natowicz Marvin R; Alper Jane K; Alper Joseph S
Reply to Hook: genetic discrimination and public safety.
American journal of human genetics 1992;51(4):898-9.
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1992: Natowicz M R; Alper J K; Alper J S
Genetic discrimination and the Americans with Disabilities Act.
American journal of human genetics 1992;51(4):895-7.
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1992: Triggs-Raine B L; Mules E H; Kaback M M; Lim-Steele J S; Dowling C E; Akerman B R; Natowicz M R; Grebner E E; Navon R; Welch J P
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
American journal of human genetics 1992;51(4):793-801.
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1992: Prence E M; Natowicz M R
Diagnosis of alpha-mannosidosis by measuring alpha-mannosidase in plasma.
Clinical chemistry 1992;38(4):501-3.
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1992: Billings P R; Kohn M A; de Cuevas M; Beckwith J; Alper J S; Natowicz M R
Discrimination as a consequence of genetic testing.
American journal of human genetics 1992;50(3):476-82.
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1992: Natowicz M R; Alper J K; Alper J S
Genetic discrimination and the law.
American journal of human genetics 1992;50(3):465-75.
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1992: Alroy J; Schelling S H; Thalhammer J G; Raghavan S S; Natowicz M R; Prence E M; Orgad U
Adult onset lysosomal storage disease in a Tibetan terrier: clinical, morphological and biochemical studies.
Acta neuropathologica 1992;84(6):658-63.
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1992: Akerman B R; Zielenski J; Triggs-Raine B L; Prence E M; Natowicz M R; Lim-Steele J S; Kaback M M; Mules E H; Thomas G H; Clarke J T
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
Human mutation 1992;1(4):303-9.
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1991: Natowicz M R; Prence E M; Cajolet A
Marked variation in blood beta-hexosaminidase in Gaucher disease.
Clinica chimica acta; international journal of clinical chemistry 1991;203(1):17-22.
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1991: Natowicz M R; Alper J S
Genetic screening: triumphs, problems, and controversies.
Journal of public health policy 1991;12(4):475-91.
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1990: Triggs-Raine B L; Feigenbaum A S; Natowicz M; Skomorowski M A; Schuster S M; Clarke J T; Mahuran D J; Kolodny E H; Gravel R A
Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.
The New England journal of medicine 1990;323(1):6-12.
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