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1

Editorial: Secondary vs. Idiopathic Autism

Casanova, Manuel F., Casanova, Emily L., Frye, Richard Eugene, Baeza-Velasco, Carolina, LaSalle, Janine M., Hagerman, Randi Jensen, Scherer, Stephen W., Natowicz, Marvin R.

Journal:

Frontiers in Psychiatry

Year:

2020

File:

PDF, 215 KB

2020

2

Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism

Cunniff, Christopher, Kratz, Lisa E., Moser, Ann, Natowicz, Marvin R., Kelley, Richard I.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 203 KB

english, 1997

3

Abnormal bile acids in the Smith-Lemli-Opitz syndrome

Marvin R. Natowicz, James E. Evans

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 403 KB

english, 1994

4

Medical privacy and the disclosure of personal medical information: The beliefs and experiences of those with genetic and other clinical conditions

Nancy E. Kass, Sara Chandros Hull, Marvin R. Natowicz, Ruth R. Faden, Laura Plantinga, Lawrence O. Gostin, Julia Slutsman

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 97 KB

english, 2004

5

Access to health insurance: Experiences and attitudes of those with genetic versus non-genetic medical conditions

Nancy E. Kass, Amy M. Medley, Marvin R. Natowicz, Sara Chandros Hull, Ruth R. Faden, Laura Plantinga, Lawrence O. Gostin

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 122 KB

english, 2007

6

Disclosure, confidentiality, and families: Experiences and attitudes of those with genetic versus nongenetic medical conditions

Laura Plantinga, Marvin R. Natowicz, Nancy E. Kass, Sara Chandros Hull, Lawrence O. Gostin, Ruth R. Faden

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2003

Language:

english

File:

PDF, 96 KB

english, 2003

7

Biopsy-proven alpha-glucosidase deficiency with normal lymphocyte enzyme activity

Charles H. Whitaker, Kevin J. Felice, Marvin Natowicz

Journal:

Year:

2004

Language:

english

File:

PDF, 133 KB

english, 2004

8

A rapid method for chromatographic analysis of oligosaccharides on Bio-Gel P-4

Marvin Natowicz, Jacques U. Baenziger

Journal:

Analytical Biochemistry

Year:

1980

Language:

english

File:

PDF, 413 KB

english, 1980

9

The Use of Medical Records in Research: What Do Patients Want?

Nancy E. Kass, Marvin R. Natowicz, Sara Chandros Hull, Ruth R. Faden, Laura Plantinga, Lawrence O. Gostin, Julia Slutsman

Journal:

The Journal of Law, Medicine & Ethics

Year:

2003

Language:

english

File:

PDF, 566 KB

english, 2003

10

Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis

Weissman, Jacqueline R., Kelley, Richard I., Bauman, Margaret L., Cohen, Bruce H., Murray, Katherine F., Mitchell, Rebecca L., Kern, Rebecca L., Natowicz, Marvin R., Schiffmann, Raphael

Journal:

Year:

2008

Language:

english

File:

PDF, 98 KB

english, 2008

11

Urinary bile acids and peroxisomal bifunctional enzyme deficiency

Natowicz, Marvin R., Evans, James E., Kelley, Richard I., Moser, Ann B., Watkins, Paul A., Moser, Hugo W.

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 735 KB

1996

12

Plasma hyaluronidase activity in mucolipidoses II and III: Marked differences from other lysosomal enzymes

Natowicz, Marvin R., Wang, Yu

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 463 KB

english, 1996

13

Unusual thermolability properties of beta-hexosaminidase: Studies of enzyme from cultured cells and clinical implications

Prence, Elizabeth M., Zalewski, Irena, Natowicz, Marvin R.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 480 KB

english, 1996

14

Aglossia with congenital absence of the mandibular rami and other craniofacial abnormalities

Dr. Julie A. Neidich, Linton A. Whitaker, Marvin Natowicz, Donna M. McDonald, Rhonda Schnur, Elaine H. Zackai, John M. Opitz, James F. Reynolds, Robert J. Gorlin

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 375 KB

english, 1988

15

Genetic disorders that masquerade as multiple sclerosis

Marvin R. Natowicz, Bassem Bejjani

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 2.64 MB

english, 1994

16

Tay-sachs disease in persons of French-Canadian heritage in northern New England

Glenn E. Palomaki, Josephine Williams, James E. Haddow, Marvin R. Natowicz

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 457 KB

english, 1995

17

EEOC Compliance Manual for the ADA and Genetic Discrimination

Joseph S. Alper, Jane K. Alper, Dr. Marvin R. Natowicz

Journal:

American Journal of Medical Genetics Part A

Year:

1996

Language:

english

File:

PDF, 115 KB

english, 1996

18

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs

Rick A. Martin, Rachel Slaugh, Marvin Natowicz, Kayla Pearlman, Eduard Orvisky, Donna Krasnewich, Robert Kleta, Marjan Huizing, William A. Gahl

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 159 KB

english, 2003

19

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children

Robert Kleta, David J. Aughton, Michael J. Rivkin, Marjan Huizing, Erin Strovel, Yair Anikster, Eduard Orvisky, Marvin Natowicz, Donna Krasnewich, William A. Gahl

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 220 KB

english, 2003

20

Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation

Ilka Warshawsky, Richard A. Rudick, Susan M. Staugaitis, Marvin R. Natowicz

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 316 KB

english, 2005

21

Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: Clinical and molecular studies

Dr. Edward M. Kaye, Rhonda F. Doll, Marvin R. Natowicz, Frances I. Smith

Journal:

Annals of Neurology

Year:

1994

Language:

english

File:

PDF, 491 KB

english, 1994

22

Screening techniques for the detection of inborn errors of bile acid metabolism by direct injection and micro-high performance liquid chromatography–continuous flow/fast atom bombardment mass spectrometry

James E. Evans, Amit Ghosh, Barbara A. Evans, Marvin R. Natowicz

Journal:

Biological Mass Spectrometry = Journal of Mass Spectrometry (Wiley)

Year:

1993

Language:

english

File:

PDF, 572 KB

english, 1993

23

Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet

Jennifer R.L. Friedman, Elizabeth A. Thiele, Dong Wang, Kara B. Levine, Erin K. Cloherty, Heidi H. Pfeifer, Darryl C. De Vivo, Anthony Carruthers, Marvin R. Natowicz

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 92 KB

english, 2006

24

Rapid separation of anionic oligosaccharide species by high performance liquid chromatography

Jacques U. Baenziger, Marvin Natowicz

Journal:

Analytical Biochemistry

Year:

1981

Language:

english

File:

PDF, 386 KB

english, 1981

25

Serum chitotriosidase activity and Wegener's granulomatosis

Curry L. Koening, Carmen E. Gota, Carol A. Langford, Gary S. Hoffman, Marvin R. Natowicz

Journal:

Clinical Biochemistry

Year:

2010

Language:

english

File:

PDF, 182 KB

english, 2010

26

Adult onset lysosomal storage disease in a Tibetan terrier: Clinical, morphological and biochemical studies

Joseph Alroy, Scott H. Schelling, Johann G. Thalhammer, Srinivasa S. Raghavan, Marvin R. Natowicz, Elizabeth M. Prence, Uri Orgad

Journal:

Acta Neuropathologica

Year:

1992

Language:

english

File:

PDF, 2.02 MB

english, 1992

27

Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia

Beate Diehl, Michael S. Lee, Janet R. Reid, Craig D. Nielsen, Marvin R. Natowicz

Journal:

Year:

2010

Language:

english

File:

PDF, 143 KB

english, 2010

28

Identification of Glucuronide-conjugated Hydroxylated Fatty Acids in the Urine of Children with Generalized Peroxisomal Disorder

JACQUELINE M. STREET, JAMES E. EVANS, MARVIN R. NATOWICZ, PAUL DOROSHEVICH, AMIT GHOSH

Journal:

Annals of the New York Academy of Sciences

Year:

1996

Language:

english

File:

PDF, 105 KB

english, 1996

29

Individual, family, and societal dimensions of genetic discrimination: A case study analysis

Lisa N. Geller, Joseph S. Alper, Paul R. Billings, Carol I. Barash, Jonathan Beckwith, Marvin R. Natowicz

Journal:

Science and Engineering Ethics

Year:

1996

File:

PDF, 288 KB

1996

30

Marked variation in blood beta-hexosaminidase in Gaucher disease

Marvin R. Natowicz, Elizabeth M. Prence, Andrea Cajolet

Journal:

Clinica Chimica Acta

Year:

1991

Language:

english

File:

PDF, 367 KB

english, 1991

31

Human serum hyaluronidase: Characterization of a clinical assay

Marvin R. Natowicz, Yu Wang

Journal:

Clinica Chimica Acta

Year:

1996

Language:

english

File:

PDF, 313 KB

english, 1996

32

Characterization of clinical assays for leukocyte and fibroblast alpha-N-acetylgalactosaminidase activities for the diagnosis of alpha-N-acetylgalactosaminidase deficiency

Elizabeth M. Prence, John Gleason, Marvin R. Natowicz

Journal:

Clinica Chimica Acta

Year:

1996

Language:

english

File:

PDF, 340 KB

english, 1996

33

Plasma chitotriosidase in lysosomal storage diseases

Ferruh Isman, Judith A. Hobert, Jerry N. Thompson, Marvin R. Natowicz

Journal:

Clinica Chimica Acta

Year:

2008

Language:

english

File:

PDF, 112 KB

english, 2008

34

The C. elegans hyaluronidase: A developmentally significant enzyme with chondroitin-degrading activity at both acidic and neutral pH

Allison Chatel, Rick Hemming, Judith Hobert, Marvin R. Natowicz, Barbara Triggs-Raine, David C. Merz

Journal:

Year:

2010

Language:

english

File:

PDF, 1.56 MB

english, 2010

35

Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease

Linda A Verkruyse, Marvin R Natowicz, Sandra L Hofmann

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1997

Language:

english

File:

PDF, 224 KB

english, 1997

36

On establishing the genetic basis of mental disease

Joseph S. Alper, Marvin R. Natowicz

Journal:

Trends in Neurosciences

Year:

1993

Language:

english

File:

PDF, 415 KB

english, 1993

37

The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background

Abrar Hussain, Joy Armistead, Lara Gushulak, Christa Kruck, Steven Pind, Barbara Triggs-Raine, Marvin R. Natowicz

Journal:

Biochemical and Biophysical Research Communications

Year:

2012

Language:

english

File:

PDF, 189 KB

english, 2012

38

Acute extrapyramidal syndrome in methylmalonic acidemia: “Metabolic stroke” involving the globus pallidus

Randall Heidenreich, Marvin Natowicz, Bryan E. Hainline, Peter Berman, Richard I. Kelley, Richard E. Hillman, Gerard T. Berry

Journal:

The Journal of Pediatrics

Year:

1988

Language:

english

File:

PDF, 1.68 MB

english, 1988

39

Brain Transcriptional and Epigenetic Associations with Autism

Ginsberg, Matthew R., Rubin, Robert A., Falcone, Tatiana, Ting, Angela H., Natowicz, Marvin R., Landsberger, Nicoletta

Journal:

Year:

2012

Language:

english

File:

PDF, 1009 KB

english, 2012

40

W1183 Plasma Citrulline Levels in Pediatric Patients with Small Bowel Crohn's Disease-a Novel Biomarker of Inflammation

Atay, Orhan K., Radhakrishnan, Kadakkal R., Parlow, Susan, Mahajan, Lori, Natowicz, Marvin

Journal:

Gastroenterology

Year:

2009

Language:

english

File:

PDF, 93 KB

english, 2009

41

Cerebrospinal fluid lactate and pyruvate concentrations and their ratio

Zhang, Wan-Ming, Natowicz, Marvin R.

Journal:

Clinical Biochemistry

Year:

2013

Language:

english

File:

PDF, 235 KB

english, 2013

42

[Part 2: Biological Sciences] || Metabolic Labeling of Lutropin with [35S]sulfate

Glen Hortin, Marvin Natowicz, John Pierce, Jacques Baenziger, Thomas Parsons and Irving Boime

Journal:

Proceedings of the National Academy of Sciences

Year:

1981

Language:

english

File:

PDF, 1.74 MB

english, 1981

43

Mutations in HYAL1, a Member of a Tandemly Distributed Multigene Family Encoding Disparate Hyaluronidase Activities, Cause a Newly Described Lysosomal Disorder, Mucopolysaccharidosis IX

Barbara Triggs-Raine, Timothy J. Salo, Hong Zhang, Brandy A. Wicklow and Marvin R. Natowicz

Journal:

Proceedings of the National Academy of Sciences

Year:

1999

Language:

english

File:

PDF, 1.07 MB

english, 1999

44

Enzymatic Identification of Mannose 6-phosphate on the Recognition Marker for Receptor-Mediated Pinocytosis of β -glucuronidase by Human Fibroblasts

Marvin R. Natowicz, Maggie M.-Y. Chi, Oliver H. Lowry and William S. Sly

Journal:

Proceedings of the National Academy of Sciences

Year:

1979

Language:

english

File:

PDF, 1.31 MB

english, 1979

45

Recognition and Receptor-Mediated Uptake of Phosphorylated High Mannose-Type Oligosaccharides by Cultured Human Fibroblasts

Marvin Natowicz, David W. Hallett, Carole Frier, Maggie Chi, Paul H. Schlesinger and Jacques U. Baenziger

Journal:

The Journal of Cell Biology

Year:

1983

Language:

english

File:

PDF, 221 KB

english, 1983

46

Fibroblast Receptor for Lysosomal Enzymes Mediates Pinocytosis of Multivalent Phosphomannan Fragment

H. David Fischer, Marvin Natowicz, William S. Sly and Roger K. Bretthauer

Journal:

The Journal of Cell Biology

Year:

1980

Language:

english

File:

PDF, 1.52 MB

english, 1980

47

Disclosure of Personal Medical Information: Differences among Parents and Affected Adults for Genetic and Nongenetic Conditions

Johnson, Summer, Kass, Nancy E., Natowicz, Marvin

Journal:

Genetic Testing

Year:

2005

Language:

english

File:

PDF, 81 KB

english, 2005

48

Rapid Prenatal Testing for Human β-Glucuronidase Deficiency (MPS VII)

Natowicz, Marvin R., Isman, Ferruh, Prence, Elizabeth M., Cedrone, Patricia, Allen, Jean J.

Journal:

Genetic Testing

Year:

2003

Language:

english

File:

PDF, 74 KB

english, 2003

49

Addressing Consumer Grievances in Medicine: Policies and Practices of Newborn Screening Programs in the United States

Natowicz, Marvin R., Hiller, Elaine H.

Journal:

Genetic Testing

Year:

2002

Language:

english

File:

PDF, 119 KB

english, 2002

50

Heterozygosity for Tay-Sachs and Sandhoff Diseases in Non-Jewish Americans with Ancestry from Ireland, Great Britain, or Italy

Branda, Kelly Johnston, Tomczak, Jerzy, Natowicz, Marvin R.

Journal:

Genetic Testing

Year:

2004

Language:

english

File:

PDF, 66 KB

english, 2004