Human serum hyaluronidase : Characterization of a clinical assayNATOWICZ, M. R; WANG, Y.Clinica chimica acta. 1996, Vol 245, Num 1, pp 1-6, issn 0009-8981Article

Plasma hyaluronidase activity in mucolipidoses II and III : Marked differences from other lysosomal enzymesNATOWICZ, M. R; WANG, Y.American journal of medical genetics. 1996, Vol 65, Num 3, pp 209-212, issn 0148-7299Article

Diagnosis of α-mannosidosis by measuring α-mannosidase in plasmaPRENCE, E. M; NATOWICZ, M. R.Clinical chemistry (Baltimore, Md.). 1992, Vol 38, Num 4, pp 501-503, issn 0009-9147Article

Unusual thermolability properties of beta-hexosaminidase : Studies of enzyme from cultured cells and clinical implicationsPRENCE, E. M; ZALEWSKI, I; NATOWICZ, M. R et al.American journal of medical genetics. 1996, Vol 65, Num 4, pp 320-324, issn 0148-7299Article

Genetic discrimination and the public entities and public accomodations titles of the Americans with Disabilities ActALPER, J. S; NATOWICZ, M. R.American journal of human genetics. 1993, Vol 53, Num 1, pp 26-32, issn 0002-9297Article

Unusual thermolability properties of leukocyte β-hexosaminidase : implications in screening for carriers of Tay-Sachs diseasePRENCE, E. M; NATOWICZ, M. R; ZALEWSKI, I et al.Clinical chemistry (Baltimore, Md.). 1993, Vol 39, Num 9, pp 1811-1814, issn 0009-9147Article

Public participation in medical policy-making and the status of consumer autonomy : The example of newborn-screening programs in the United StatesHILLER, E. H; LANDENBURGER, G; NATOWICZ, M. R et al.American journal of public health (1971). 1997, Vol 87, Num 8, pp 1280-1288, issn 0090-0036Article

Marked variation in blood beta-hexosaminidase in Gaucher diseaseNATOWICZ, M. R; PRENCE, E. M; CAJOLET, A et al.Clinica chimica acta. 1991, Vol 203, Num 1, pp 17-22, issn 0009-8981Article

Abnormal bile acids in the Smith-Lemli-Optiz syndromeNATOWICZ, M. R; EVANS, J. E.American journal of medical genetics. 1994, Vol 50, Num 4, pp 364-367, issn 0148-7299Article

Urine sulfatides and the diagnosis of metachromatic leukodystrophyNATOWICZ, M. R; PRENCE, E. M; CHATURVEDI, P et al.Clinical chemistry (Baltimore, Md.). 1996, Vol 42, Num 2, pp 232-238, issn 0009-9147Article

Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy : clinical and molecular studiesKAYE, E. M; DOLL, R. F; NATOWICZ, M. R et al.Annals of neurology. 1994, Vol 36, Num 6, pp 916-919, issn 0364-5134Article

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 spectrometryEVANS, J. E; AMIT GHOSH; EVANS, B. A et al.Biological mass spectrometry. 1993, Vol 22, Num 6, pp 331-337, issn 1052-9306Article

Late-onset Tay-Sachs disease : Adverse effects of medications and implications for treatmentSHAPIRO, B. E; HATTERS-FRIEDMAN, S; FERNANDES-FILHO, J. A et al.Neurology. 2006, Vol 67, Num 5, pp 875-877, issn 0028-3878, 3 p.Article

Case of the month : A 3.5-year-old female with developmental delays, hepatomegaly, and coarse faciesYANO, S; FALK, R. E; NATOWICZ, M. R et al.European journal of pediatrics. 1997, Vol 156, Num 8, pp 661-663, issn 0340-6199Article

Urinary bile acids and peroxisomal bifunctional enzyme deficiencyNATOWICZ, M. R; EVANS, J. E; KELLEY, R. I et al.American journal of medical genetics. 1996, Vol 63, Num 2, pp 356-362, issn 0148-7299Article

Discrimination as a consequence of genetic testingBILLINGS, P. R; KOHN, M. A; DE CUEVAS, M et al.American journal of human genetics. 1992, Vol 50, Num 3, pp 476-482, issn 0002-9297Article

Adult onset lysosomal storage disease in a Tibetan terrier : clinical, morphological and biochemical studiesALROY, J; SCHELLING, S. H; THALHAMMER, J. G et al.Acta neuropathologica. 1992, Vol 84, Num 6, pp 658-663, issn 0001-6322Article

A pseudodeficiency allele common inn non-jewish Tay-Sachs carriers : implications for carrier screeningTRIGGS-RAINE, B. L; MULES, E. H; GREENBERG, C. R et al.American journal of human genetics. 1992, Vol 51, Num 4, pp 793-801, issn 0002-9297Article

Double outlet right ventricle : aetiologies and associationsOBLER, D; JURASZEK, A. L; SMOOT, L. B et al.Journal of medical genetics. 2008, Vol 45, Num 8, pp 481-497, issn 0022-2593, 17 p.Article

Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolismCUNNIFF, C; KRATZ, L. E; MOSER, A et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 263-269, issn 0148-7299Conference Paper

Marked heterogeneity in Niemann-Pick disease, type C: clinical and ultrastructural findingsNATOWICZ, M. R; STOLER, J. M; PRENCE, E. M et al.Clinical pediatrics. 1995, Vol 34, Num 4, pp 190-197, issn 0009-9228Article