检索结果 - Rosenblatt, David S.

F. Clarke Fraser (1920–2014) 由 Rosenblatt, David S.

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Quem tem mais recursos para governar? Uma comparação das receitas per capita dos estados e municípios brasileiros 由 ROSENBLATT, DAVID, SHIDLO, GIL

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A RaDiCAL gene hunt 由 Pupavac, Mihaela, Zawati, Ma'n H., Rosenblatt, David S.

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Improvement in the Histochemical Localization of Leucine Aminopeptidase with a New Substrate, L-Leucyl-4-Methoxy-2-Naphthylamide 由 Nachlas, Marvin M., Monis, Benito, Rosenblatt, David, Seligman, Arnold M.

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Vitamin B(12) Metabolism during Pregnancy and in Embryonic Mouse Models 由 Moreno-Garcia, Maira A., Rosenblatt, David S., Jerome-Majewska, Loydie A.

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Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis 由 Field, Martha S., Kamynina, Elena, Watkins, David, Rosenblatt, David S., Stover, Patrick J.

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New insights into the metabolic and nutritional determinants of severe combined immunodeficiency 由 Field, Martha S, Kamynina, Elena, Watkins, David, Rosenblatt, David S, Stover, Patrick J

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Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism 由 Atkinson, Celia, Miousse, Isabelle R., Watkins, David, Rosenblatt, David S., Raiman, Julian A. J.

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Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis 由 Awan, Zuhier, Aljenedil, Sumayah, Rosenblatt, David S, Cusson, Jean, Gilfix, Brian M, Genest, Jacques

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Processing of alkylcobalamins in mammalian cells: a role for the MMACHC (cblC) gene product 由 Hannibal, Luciana, Kim, Jihoe, Brasch, Nicola E., Wang, Sihe, Rosenblatt, David S., Banerjee, Ruma, Jacobsen, Donald W.

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Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene 由 Waters, Paula J., Thuriot, Fanny, Clarke, Joe T.R., Gravel, Serge, Watkins, David, Rosenblatt, David S., Lévesque, Sébastien

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Folate Distribution in Cultured Human Cells: STUDIES ON 5,10-CH(2)-H(4)PTEGLU REDUCTASE DEFICIENCY 由 Rosenblatt, David S., Cooper, Bernard A., Lue-Shing, Sally, Wong, Paul W. K., Berlow, Stanley, Narisawa, Kuniaka, Baumgartner, Regula

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THE MMACHC PROTEOME: HALLMARKS OF FUNCTIONAL COBALAMIN DEFICIENCY IN HUMANS 由 Hannibal, Luciana, DiBello, Patricia M., Yu, Michelle, Miller, Abby, Wang, Sihe, Willard, Belinda, Rosenblatt, David S., Jacobsen, Donald W.

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Identification of the gene responsible for the cblA complementation group of vitamin B(12)-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements 由 Dobson, C. Melissa, Wai, Timothy, Leclerc, Daniel, Wilson, Aaron, Wu, Xuchu, Doré, Carole, Hudson, Thomas, Rosenblatt, David S., Gravel, Roy A.

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The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption 由 Zhao, Rongbao, Min, Sang Hee, Qiu, Andong, Sakaris, Antoinette, Goldberg, Gary L., Sandoval, Claudio, Malatack, J. Jeffrey, Rosenblatt, David S., Goldman, I. David

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Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A 由 Gupta, Swati, Fahiminiya, Somayyeh, Wang, Tracy, Dempsey Nunez, Laura, Rosenblatt, David S., Gibson, William T., Gilfix, Brian, Bergeron, John J. M., Jerome-Majewska, Loydie A.

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Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression 由 Quintana, Anita M., Geiger, Elizabeth A., Achilly, Nate, Rosenblatt, David S., Maclean, Kenneth N., Stabler, Sally P., Artinger, Kristin B., Appel, Bruce, Shaikh, Tamim H.

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Allosteric regulation of oligomerization by a B(12) trafficking G-protein is corrupted in methylmalonic aciduria 由 Ruetz, Markus, Campanello, Gregory C., McDevitt, Liam, Yokom, Adam L., Yadav, Pramod K., Watkins, David, Rosenblatt, David S., Ohi, Melanie D., Southworth, Daniel R., Banerjee, Ruma

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Positive Newborn Screen for Methylmalonic Aciduria Identifies the First Mutation in TCblR/CD320, the Gene for Cellular Uptake of Transcobalamin-bound Vitamin B(12) 由 Quadros, Edward V., Lai, Shao-Chiang, Nakayama, Yasumi, Sequeira, Jeffrey M., Hannibal, Luciana, Wang, Sihe, Jacobsen, Donald W., Fedosov, Sergey, Wright, Erica, Gallagher, Renata C., Anastasio, Natascia, Watkins, David, Rosenblatt, David S.

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Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome 由 Anastasio, Natascia, Ben-Omran, Tawfeg, Teebi, Ahmad, Ha, Kevin C.H., Lalonde, Emilie, Ali, Rehab, Almureikhi, Mariam, Der Kaloustian, Vazken M., Liu, Junhui, Rosenblatt, David S., Majewski, Jacek, Jerome-Majewska, Loydie A.

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