PubMed

On treatability: considerations of treatment in the context of newborn screening.

Natowicz MR, Zuckerman S.

Health Matrix Clevel. 2009 Winter;19(1):187-97. No abstract available. PMID: 19459544 [PubMed - indexed for MEDLINE]Related articles

Late-onset Tay-Sachs disease presenting as a childhood stutter.

Shapiro BE, Natowicz MR.

J Neurol Neurosurg Psychiatry. 2009 Jan;80(1):94-5. No abstract available. PMID: 19091716 [PubMed - indexed for MEDLINE]Related articles

Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.

Weissman JR, Kelley RI, Bauman ML, Cohen BH, Murray KF, Mitchell RL, Kern RL, Natowicz MR.

PLoS One. 2008;3(11):e3815. Epub 2008 Nov 26.PMID: 19043581 [PubMed - indexed for MEDLINE]Related articlesFree article

Double outlet right ventricle: aetiologies and associations.

Obler D, Juraszek AL, Smoot LB, Natowicz MR.

J Med Genet. 2008 Aug;45(8):481-97. Epub 2008 May 2. Review.PMID: 18456715 [PubMed - indexed for MEDLINE]Related articles

Plasma chitotriosidase in lysosomal storage diseases.

Isman F, Hobert JA, Thompson JN, Natowicz MR.

Clin Chim Acta. 2008 Jan;387(1-2):165-7. Epub 2007 Jul 28. No abstract available. PMID: 17869233 [PubMed - indexed for MEDLINE]Related articles

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

Kass NE, Medley AM, Natowicz MR, Hull SC, Faden RR, Plantinga L, Gostin LO.

Am J Med Genet A. 2007 Apr 1;143(7):707-17.PMID: 17290434 [PubMed - indexed for MEDLINE]Related articles

Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England.

Martin DC, Mark BL, Triggs-Raine BL, Natowicz MR.

Clin Chem. 2007 Mar;53(3):392-8. Epub 2007 Jan 26.PMID: 17259242 [PubMed - indexed for MEDLINE]Related articlesFree article

Late-onset Tay-Sachs disease: adverse effects of medications and implications for treatment.

Shapiro BE, Hatters-Friedman S, Fernandes-Filho JA, Anthony K, Natowicz MR.

Neurology. 2006 Sep 12;67(5):875-7.PMID: 16966555 [PubMed - indexed for MEDLINE]Related articles

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.

Warshawsky I, Chernova OB, Hübner CA, Stindl R, Henneke M, Gal A, Natowicz MR.

Clin Chem. 2006 Jul;52(7):1267-75. Epub 2006 Apr 27.PMID: 16644873 [PubMed - indexed for MEDLINE]Related articlesFree article

Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.

Friedman JR, Thiele EA, Wang D, Levine KB, Cloherty EK, Pfeifer HH, De Vivo DC, Carruthers A, Natowicz MR.

Mov Disord. 2006 Feb;21(2):241-5.PMID: 16149086 [PubMed - indexed for MEDLINE]Related articles

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

Warshawsky I, Rudick RA, Staugaitis SM, Natowicz MR.

Ann Neurol. 2005 Sep;58(3):470-3.PMID: 16130097 [PubMed - indexed for MEDLINE]Related articles

Lysosomal enzymes in human peripheral blood mononuclear cells and granulocytes.

Isman F, Palomaki GE, Natowicz MR.

Clin Chem. 2005 Mar;51(3):646-9. Epub 2005 Jan 6. No abstract available. PMID: 15637131 [PubMed - indexed for MEDLINE]Related articlesFree article

Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy.

Branda KJ, Tomczak J, Natowicz MR.

Genet Test. 2004 Summer;8(2):174-80.PMID: 15345116 [PubMed - indexed for MEDLINE]Related articles

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

Kass NE, Hull SC, Natowicz MR, Faden RR, Plantinga L, Gostin LO, Slutsman J.

Am J Med Genet A. 2004 Jul 30;128A(3):261-70.PMID: 15216547 [PubMed - indexed for MEDLINE]Related articles

Rapid prenatal testing for human beta-glucuronidase deficiency (MPS VII).

Natowicz MR, Isman F, Prence EM, Cedrone P, Allen JJ.

Genet Test. 2003 Fall;7(3):241-3.PMID: 14642000 [PubMed - indexed for MEDLINE]Related articles

The use of medical records in research: what do patients want?

Kass NE, Natowicz MR, Hull SC, Faden RR, Plantinga L, Gostin LO, Slutsman J.

J Law Med Ethics. 2003 Fall;31(3):429-33. No abstract available. PMID: 14626550 [PubMed - indexed for MEDLINE]Related articles

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

Plantinga L, Natowicz MR, Kass NE, Hull SC, Gostin LO, Faden RR.

Am J Med Genet C Semin Med Genet. 2003 May 15;119C(1):51-9.PMID: 12704638 [PubMed - indexed for MEDLINE]Related articles

Addressing consumer grievances in medicine: policies and practices of newborn screening programs in the United States.

Natowicz MR, Hiller EH.

Genet Test. 2002 Spring;6(1):31-8.PMID: 12180074 [PubMed - indexed for MEDLINE]Related articles

V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.

Pind S, Slominski E, Mauthe J, Pearlman K, Swoboda KJ, Wilkins JA, Sauder P, Natowicz MR.

J Biol Chem. 2002 Mar 1;277(9):7136-43. Epub 2001 Dec 20.PMID: 11751922 [PubMed - indexed for MEDLINE]Related articlesFree article

The commercialization of clinical genetics: an analysis of interrelations between academic centers and for-profit clinical genetics diagnostics companies.

Natowicz MR, Ard C.

J Genet Couns. 1997 Sep;6(3):337-55. No abstract available. PMID: 11655206 [PubMed - indexed for MEDLINE]Related articles

A seat at the table: membership in federal advisory committees evaluating public policy in genetics.

Ard CF, Natowicz MR.

Am J Public Health. 2001 May;91(5):787-90.PMID: 11344888 [PubMed - indexed for MEDLINE]Related articlesFree article

Analysis of sulfatide and enzymes of sulfatide metabolism.

Jungalwala FB, Natowicz MR, Chaturvedi P, Newburg DS.

Methods Enzymol. 2000;311:94-105. No abstract available. PMID: 10563314 [PubMed - indexed for MEDLINE]Related articles

Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.

Triggs-Raine B, Salo TJ, Zhang H, Wicklow BA, Natowicz MR.

Proc Natl Acad Sci U S A. 1999 May 25;96(11):6296-300.PMID: 10339581 [PubMed - indexed for MEDLINE]Related articlesFree article

A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new lysosomal disease?

Simon DK, Rodriguez ML, Frosch MP, Quackenbush EJ, Feske SK, Natowicz MR.

J Neurol Neurosurg Psychiatry. 1998 Aug;65(2):251-4.PMID: 9703182 [PubMed - indexed for MEDLINE]Related articlesFree article

Public participation in medical policy-making and the status of consumer autonomy: the example of newborn-screening programs in the United States.

Hiller EH, Landenburger G, Natowicz MR.

Am J Public Health. 1997 Aug;87(8):1280-8.PMID: 9279262 [PubMed - indexed for MEDLINE]Related articlesFree article

Case of the month. A 3.5-year-old female with developmental delays, hepatomegaly, and coarse facies.

Yano S, Falk RE, Natowicz MR, Williams JC.

Eur J Pediatr. 1997 Aug;156(8):661-3. No abstract available. PMID: 9266203 [PubMed - indexed for MEDLINE]Related articles

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

Verkruyse LA, Natowicz MR, Hofmann SL.

Biochim Biophys Acta. 1997 Jul 10;1361(1):1-5.PMID: 9247083 [PubMed - indexed for MEDLINE]Related articles

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

Akerman BR, Natowicz MR, Kaback MM, Loyer M, Campeau E, Gravel RA.

Am J Hum Genet. 1997 May;60(5):1099-106.PMID: 9150157 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI.

Am J Med Genet. 1997 Jan 31;68(3):263-9.PMID: 9024557 [PubMed - indexed for MEDLINE]Related articles

Heterozygosity for Tay-Sachs and Sandhoff diseases among Massachusetts residents with French Canadian background.

Prence EM, Jerome CA, Triggs-Raine BL, Natowicz MR.

J Med Screen. 1997;4(3):133-6.PMID: 9368869 [PubMed - indexed for MEDLINE]Related articles

Identification of glucuronide-conjugated hydroxylated fatty acids in the urine of children with generalized peroxisomal disorder.

Street JM, Evans JE, Natowicz MR, Doroshevich P, Ghosh A.

Ann N Y Acad Sci. 1996 Dec 27;804:768-9. No abstract available. PMID: 8993618 [PubMed - indexed for MEDLINE]Related articles

Heterozygote screening for Tay-Sachs disease: past successes and future challenges.

Natowicz MR, Prence EM.

Curr Opin Pediatr. 1996 Dec;8(6):625-9. Review.PMID: 9018448 [PubMed - indexed for MEDLINE]Related articles

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

Prence EM, Zalewski I, Natowicz MR.

Am J Med Genet. 1996 Nov 11;65(4):320-4.PMID: 8923943 [PubMed - indexed for MEDLINE]Related articles

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

Natowicz MR, Wang Y.

Am J Med Genet. 1996 Oct 28;65(3):209-12.PMID: 9240745 [PubMed - indexed for MEDLINE]Related articles

Clinical and biochemical manifestations of hyaluronidase deficiency.

Natowicz MR, Short MP, Wang Y, Dickersin GR, Gebhardt MC, Rosenthal DI, Sims KB, Rosenberg AE.

N Engl J Med. 1996 Oct 3;335(14):1029-33. No abstract available. PMID: 8793927 [PubMed - indexed for MEDLINE]Related articles

Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.

van Bael M, Natowicz MR, Tomczak J, Grebner EE, Prence EM.

J Med Genet. 1996 Oct;33(10):829-32.PMID: 8933335 [PubMed - indexed for MEDLINE]Related articlesFree article

Urinary bile acids and peroxisomal bifunctional enzyme deficiency.

Natowicz MR, Evans JE, Kelley RI, Moser AB, Watkins PA, Moser HW.

Am J Med Genet. 1996 May 17;63(2):356-62.PMID: 8725785 [PubMed - indexed for MEDLINE]Related articles

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

Prence EM, Gleason J, Natowicz MR.

Clin Chim Acta. 1996 Mar 29;247(1-2):167-73. No abstract available. PMID: 8920235 [PubMed - indexed for MEDLINE]Related articles

Glucuronic acid-conjugated dihydroxy fatty acids in the urine of patients with generalized peroxisomal disorders.

Street JM, Evans JE, Natowicz MR.

J Biol Chem. 1996 Feb 16;271(7):3507-16.PMID: 8631955 [PubMed - indexed for MEDLINE]Related articlesFree article

Human serum hyaluronidase: characterization of a clinical assay.

Natowicz MR, Wang Y.

Clin Chim Acta. 1996 Feb 9;245(1):1-6. Erratum in: Clin Chim Acta 1996 Nov 15;255(1):91. PMID: 8646808 [PubMed - indexed for MEDLINE]Related articles

Urine sulfatides and the diagnosis of metachromatic leukodystrophy.

Natowicz MR, Prence EM, Chaturvedi P, Newburg DS.

Clin Chem. 1996 Feb;42(2):232-8.PMID: 8595716 [PubMed - indexed for MEDLINE]Related articlesFree article

EEOC compliance manual for the ADA and genetic discrimination.

Alper JS, Alper JK, Natowicz MR.

Am J Med Genet. 1996 Jan 2;61(1):95. No abstract available. PMID: 8741930 [PubMed - indexed for MEDLINE]Related articles

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

Geller LN, Alper JS, Billings PR, Barash CI, Beckwith J, Natowicz MR.

Sci Eng Ethics. 1996 Jan;2(1):71-88. No abstract available. PMID: 11657787 [PubMed - indexed for MEDLINE]Related articles

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

Palomaki GE, Williams J, Haddow JE, Natowicz MR.

Am J Med Genet. 1995 May 8;56(4):409-12.PMID: 7604851 [PubMed - indexed for MEDLINE]Related articles

Marked heterogeneity in Niemann-Pick disease, type C. Clinical and ultrastructural findings.

Natowicz MR, Stoler JM, Prence EM, Liscum L.

Clin Pediatr (Phila). 1995 Apr;34(4):190-7.PMID: 7789012 [PubMed - indexed for MEDLINE]Related articles

Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.

Triggs-Raine B, Richard M, Wasel N, Prence EM, Natowicz MR.

Am J Hum Genet. 1995 Apr;56(4):870-9.PMID: 7717398 [PubMed - indexed for MEDLINE]Related articlesFree article

Delayed myelination in infants and young children: radiographic and clinical correlates.

Squires LA, Krishnamoorthy KS, Natowicz MR.

J Child Neurol. 1995 Mar;10(2):100-4.PMID: 7540191 [PubMed - indexed for MEDLINE]Related articles

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

Kaye EM, Doll RF, Natowicz MR, Smith FI.

Ann Neurol. 1994 Dec;36(6):916-9.PMID: 7998780 [PubMed - indexed for MEDLINE]Related articles

Abnormal bile acids in the Smith-Lemli-Opitz syndrome.

Natowicz MR, Evans JE.

Am J Med Genet. 1994 May 1;50(4):364-7.PMID: 8209917 [PubMed - indexed for MEDLINE]Related articles

Genetic disorders that masquerade as multiple sclerosis.

Natowicz MR, Bejjani B.

Am J Med Genet. 1994 Jan 15;49(2):149-69. Review.PMID: 8116663 [PubMed - indexed for MEDLINE]Related articles