Double outlet right ventricle: aetiologies and associations von Obler, D, Juraszek, A L, Smoot, L B, Natowicz, M R

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Development of a new clinical assay of plasma acylcarnitines using high performance liquid chromatography – Tandem mass spectrometry von Shao, D., Zhai, L., Pap, K., Giles, R., Natowicz, M.

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Late-onset Tay–Sachs disease presenting as a childhood stutter von Shapiro, B E, Natowicz, M R

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Newborn Screening — Setting Evidence-Based Policy for Protection von Natowicz, Marvin

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Late-onset Tay-Sachs disease : Adverse effects of medications and implications for treatment von SHAPIRO, B. E, HATTERS-FRIEDMAN, S, FERNANDES-FILHO, J. A, ANTHONY, K, NATOWICZ, M. R

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DISCRIMINATION AS A CONSEQUENCE OF GENETIC TESTING von BILLINGS, PR, KOHN, MA, DECUEVAS, M, BECKWITH, J, ALPER, JS, NATOWICZ, MR

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New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN von HOGARTH, Penelope, GREGORY, Allison, FOULDS, Nicola C, HAMMANS, Simon R, DESGUERRE, Isabelle, RODRIGUEZ, Diana, WILSON, Callum, DIEDRICH, Andrea, GREEN, Sarah, TRAN, Huong, REESE, Lindsay, WOLTJER, Randall L, KRUER, Michael C, HAYFLICK, Susan J, SANFORD, Lynn, WAGONER, Wendy, NATOWICZ, Marvin R, EGEL, Robert T, SUBRAMONY, S. H, GOLDMAN, Jennifer G, BERRY-KRAVIS, Elizabeth

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Clinical and Biochemical Manifestations of Hyaluronidase Deficiency von Natowicz, Marvin R, Short, M. Priscilla, Wang, Yu, Dickersin, G. Richard, Gebhardt, Mark C, Rosenthal, Daniel I, Sims, Katherine B, Rosenberg, Andrew E

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Public participation in medical policy-making and the status of consumer autonomy: the example of newborn-screening programs in the United States von Hiller, E H, Landenburger, G, Natowicz, M R

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Mutations in HYAL1, a Member of a Tandemly Distributed Multigene Family Encoding Disparate Hyaluronidase Activities, Cause a Newly Described Lysosomal Disorder, Mucopolysaccharidos... von Triggs-Raine, Barbara, Salo, Timothy J., Zhang, Hong, Wicklow, Brandy A., Natowicz, Marvin R.

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Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism von Cunniff, Christopher, Kratz, Lisa E., Moser, Ann, Natowicz, Marvin R., Kelley, Richard I.

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V490M, a Common Mutation in 3-Phosphoglycerate Dehydrogenase Deficiency, Causes Enzyme Deficiency by Decreasing the Yield of Mature Enzyme von Pind, Steven, Slominski, Elzbieta, Mauthe, Jill, Pearlman, Kayla, Swoboda, Kathryn J., Wilkins, John A., Sauder, Patricia, Natowicz, Marvin R.

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A seat at the table: membership in federal advisory committees evaluating public policy in genetics von Ard, CF, Natowicz, MR

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Human serum hyaluronidase: Characterization of a clinical assay von Natowicz, Marvin R., Wang, Yu

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GENETIC DISCRIMINATION AND THE LAW von NATOWICZ, MR, ALPER, JK, ALPER, JS

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A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new lysosomal disease? von Simon, David K, Rodriguez, Michael L, Frosch, Matthew P, Quackenbush, Elizabeth J, Feske, Steven K, Natowicz, Marvin R

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Glucuronic Acid-conjugated Dihydroxy Fatty Acids in the Urine of Patients with Generalized Peroxisomal Disorders (∗) von Street, Jacqueline M., Evans, James E., Natowicz, Marvin R.

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Adult-onset MLD : A gene mutation with isolated polyneuropathy von FELICE, K. J, GOMEZ LIRA, M, NATOWICZ, M, GRUNNET, M. L, TSONGALIS, G. J, SIMA, A. A. F, KAPLAN, R. F

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Urine sulfatides and the diagnosis of metachromatic leukodystrophy von Natowicz, MR, Prence, EM, Chaturvedi, P, Newburg, DS

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P101 PLASMA CITRULLINE IS A MARKER OF HOME PARENTERAL NUTRITION DEPENDENCE IN PATIENTS WITH SHORT BOWEL SYNDROME von Parekh, N.R, Natowicz, M, Lopez, R, Seidner, D.L, Su, L, Steiger, E

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