F. Clarke Fraser (1920–2014)

Por Rosenblatt, David S.
Publicado no Am J Hum Genet (2015)

A RaDiCAL gene hunt

Por Pupavac, Mihaela, Zawati, Ma'n H., Rosenblatt, David S.
Publicado no J Taibah Univ Med Sci (2017)

Improvement in the Histochemical Localization of Leucine Aminopeptidase with a New Substrate, L-Leucyl-4-Methoxy-2-Naphthylamide

Por Nachlas, Marvin M., Monis, Benito, Rosenblatt, David, Seligman, Arnold M.
Publicado em 1960

Vitamin B(12) Metabolism during Pregnancy and in Embryonic Mouse Models

Por Moreno-Garcia, Maira A., Rosenblatt, David S., Jerome-Majewska, Loydie A.
Publicado em 2013

Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis

Por Field, Martha S., Kamynina, Elena, Watkins, David, Rosenblatt, David S., Stover, Patrick J.
Publicado no Proc Natl Acad Sci U S A (2015)

New insights into the metabolic and nutritional determinants of severe combined immunodeficiency

Por Field, Martha S, Kamynina, Elena, Watkins, David, Rosenblatt, David S, Stover, Patrick J
Publicado no Rare Dis (2015)

Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism

Por Atkinson, Celia, Miousse, Isabelle R., Watkins, David, Rosenblatt, David S., Raiman, Julian A. J.
Publicado no JIMD Rep (2014)

Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis

Por Awan, Zuhier, Aljenedil, Sumayah, Rosenblatt, David S, Cusson, Jean, Gilfix, Brian M, Genest, Jacques
Publicado no Thromb J (2014)

Processing of alkylcobalamins in mammalian cells: a role for the MMACHC (cblC) gene product

Por Hannibal, Luciana, Kim, Jihoe, Brasch, Nicola E., Wang, Sihe, Rosenblatt, David S., Banerjee, Ruma, Jacobsen, Donald W.
Publicado em 2009

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene

Por Waters, Paula J., Thuriot, Fanny, Clarke, Joe T.R., Gravel, Serge, Watkins, David, Rosenblatt, David S., Lévesque, Sébastien
Publicado no Mol Genet Metab Rep (2016)

Folate Distribution in Cultured Human Cells: STUDIES ON 5,10-CH(2)-H(4)PTEGLU REDUCTASE DEFICIENCY

Por Rosenblatt, David S., Cooper, Bernard A., Lue-Shing, Sally, Wong, Paul W. K., Berlow, Stanley, Narisawa, Kuniaka, Baumgartner, Regula
Publicado em 1979

THE MMACHC PROTEOME: HALLMARKS OF FUNCTIONAL COBALAMIN DEFICIENCY IN HUMANS

Por Hannibal, Luciana, DiBello, Patricia M., Yu, Michelle, Miller, Abby, Wang, Sihe, Willard, Belinda, Rosenblatt, David S., Jacobsen, Donald W.
Publicado em 2011

Identification of the gene responsible for the cblA complementation group of vitamin B(12)-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements

Por Dobson, C. Melissa, Wai, Timothy, Leclerc, Daniel, Wilson, Aaron, Wu, Xuchu, Doré, Carole, Hudson, Thomas, Rosenblatt, David S., Gravel, Roy A.
Publicado em 2002

The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption

Por Zhao, Rongbao, Min, Sang Hee, Qiu, Andong, Sakaris, Antoinette, Goldberg, Gary L., Sandoval, Claudio, Malatack, J. Jeffrey, Rosenblatt, David S., Goldman, I. David
Publicado em 2007

Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A

Por 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.
Publicado no Cold Spring Harb Mol Case Stud (2016)

Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression

Por 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.
Publicado no Dev Biol (2014)

Allosteric regulation of oligomerization by a B(12) trafficking G-protein is corrupted in methylmalonic aciduria

Por 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
Publicado no Cell Chem Biol (2019)

Positive Newborn Screen for Methylmalonic Aciduria Identifies the First Mutation in TCblR/CD320, the Gene for Cellular Uptake of Transcobalamin-bound Vitamin B(12)

Por 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.
Publicado em 2010

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

Por 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.
Publicado em 2010

Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head

Por Mah, Wayne, Sonkusare, Swapnil K, Wang, Tracy, Azeddine, Bouziane, Pupavac, Mihaela, Carrot-Zhang, Jian, Hong, Kwangseok, Majewski, Jacek, Harvey, Edward J, Russell, Laura, Chalk, Colin, Rosenblatt, David S, Nelson, Mark T, Séguin, Chantal
Publicado no J Med Genet (2016)