Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines von Vogel, B.H., Bradley, S.E., Adams, D.J., D'Aco, K., Erbe, R.W., Fong, C., Iglesias, A., Kronn, D., Levy, P., Morrissey, M., Orsini, J., Parton, P., Pellegrino, J., Saavedra-Matiz, C.A., Shur, N., Wasserstein, M., Raymond, G.V., Caggana, M.

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Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures von Stern, D., Cho, M.T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie‐Rosell, A., Burton, B.K., Kim, K.H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B., Guillen Sacoto, M.J., Wentzensen, I.M., McLaughlin, H.M., McKnight, D., Chung, W.K.

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Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders von Mokhtarani, M., Diaz, G.A., Rhead, W., Lichter-Konecki, U., Bartley, J., Feigenbaum, A., Longo, N., Berquist, W., Berry, S.A., Gallagher, R., Bartholomew, D., Harding, C.O., Korson, M.S., McCandless, S.E., Smith, W., Vockley, J., Bart, S., Kronn, D., Zori, R., Cederbaum, S., Dorrani, N., Merritt, J.L., Sreenath-Nagamani, Sandesh, Summar, M., LeMons, C., Dickinson, K., Coakley, D.F., Moors, T.L., Lee, B., Scharschmidt, B.F.

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MeCP2 mutations in children with and without the phenotype of Rett syndrome von HOFFBUHR, K, DEVANEY, J. M, NARAYANAN, V, UMANSKY, R, KRONN, D, HOFFMAN, E. P, NAIDU, S, LAFLEUR, B, SIRIANNI, N, SCACHERI, C, GIRON, J, SCHUETTE, J, INNIS, J, MARINO, M, PHILIPPART, M

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Schwannomatosis : A clinical and pathologic study von MACCOLLIN, M, WOODFIN, W, KRONN, D, SHORT, M. P

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Genotypic differences of MCAD deficiency in the Asian population: Novel genotype and clinical symptoms preceding newborn screening notification von Ensenauer, Regina, Winters, Jennifer L., Parton, Patricia A., Kronn, David F., Kim, Jong-Won, Matern, Dietrich, Rinaldo, Piero, Hahn, Si Houn

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P.24 A case of missed PKU von Mofidi, S, Garizio, GS, Taska-Tench, HG, Kronn, DF

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Hereditary folate malabsorption: family report and review of the literature von Geller, James, Kronn, David, Jayabose, Somasundaram, Sandoval, Claudio

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Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population von Kronn, D, Oddoux, C, Phillips, J, Ostrer, H

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Diagnostic guidelines for newborns who screen positive in newborn screening von Kronn, David, Mofidi, Shideh, Braverman, Nancy, Harris, Katharine

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Rare Etiology of Autosomal Recessive Disease in a Child with Noncarrier Parents von Lebo, Roger V., Shapiro, Lawrence R., Fenerci, Elif Yosunkaya, Hoover, J.M., Chuang, Jacinta L., Chuang, David T., Kronn, David F.

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Association of the missense variant p. Arg203Trp in PACS1 as a cause of intellectual disability and seizures von Stern, D., Cho, M.T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie‐Rosell, A., Burton, B.K., Kim, K.H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B., Guillen Sacoto, M.J., Wentzensen, I.M., McLaughlin, H.M., McKnight, D., Chung, W.K.

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Molecular Analysis of the NF2 Tumor-Suppressor Gene in Schwannomatosis von Jacoby, Lee B., Jones, Deborah, Davis, Kevin, Kronn, David, Short, M. Priscilla, Gusella, James, MacCollin, Mia

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Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: Case report and review of the literature von Sandoval, Claudio, Pine, Sharon R., Guo, Qianxu, Sastry, Sudha, Stewart, Julian, Kronn, David, Jayabose, Somasundaram

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Newborn Screening for Krabbe Disease: the New York State Model von Duffner, Patricia K., MD, Caggana, Michele, ScD, Orsini, Joseph J., PhD, Wenger, David A., PhD, Patterson, Marc C., MD, Crosley, Carl J., MD, Kurtzberg, Joanne, MD, Arnold, Georgianne L., MD, Escolar, Maria L., MD, Adams, Darius J., MD, Andriola, Mary R., MD, Aron, Alan M., MD, Ciafaloni, Emma, MD, Djukic, Alexandra, MD, Erbe, Richard W., MD, Galvin-Parton, Patricia, MD, Helton, Laura E., MD, MPH, Kolodny, Edwin H., MD, Kosofsky, Barry E., MD, Kronn, David F., MD, Kwon, Jennifer M., MD, Levy, Paul A., MD, Miller-Horn, Jill, MD, Naidich, Thomas P., MD, Pellegrino, Joan E., MD, Provenzale, James M., MD, Rothman, Stanley J., MD, Wasserstein, Melissa P., MD

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Severe Conradi-Hünermann Syndrome (CDPX2) is a phenocopy of peroxisomal Rhizomelic Chondrodysplasia Punctata (RCDP) von Kronn, D., Shapiro, L.R., Kelly, R., Braverman, N.

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Urea Cycle Disorders in the Pubertal Female and the Role of Hormone Therapy von Childress, Krista, MD, Robart, Sarah, MS, CGC, Mofidi, Shideh, MS, RD, CSP, Regard, Monique, MD, Kronn, David, MD, Mariel Focseneanu, MD

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Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome von Sreekantaiah, C., Kronn, D., Marinescu, R.C., Goldin, B., Overhauser, J.

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Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-la... von Hahn, Si Houn, Kronn, David, Leslie, Nancy D, Pena, Loren D M, Tanpaiboon, Pranoot, Gambello, Michael J, Gibson, James B, Hillman, Richard, Stockton, David W, Day, John W, Wang, Raymond Y, An Haack, Kristina, Shafi, Raheel, Sparks, Susan, Zhao, Yang, Wilson, Catherine, Kishnani, Priya S

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Krone : le plus grand cirque d'Europe : Programme

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