Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Suvimol C. Hill"'
Autor:
John J. DiGiovanna, Grant Randall, Alexandra Edelman, Rina Allawh, Michael Xiong, Deborah Tamura, Sikandar G. Khan, Elizabeth R. H. Rizza, James C. Reynolds, Scott M. Paul, Suvimol C. Hill, Kenneth H. Kraemer
Publikováno v:
American Journal of Medical Genetics Part A. 188:3448-3462
Autor:
John J, DiGiovanna, Grant, Randall, Alexandra, Edelman, Rina, Allawh, Michael, Xiong, Deborah, Tamura, Sikandar G, Khan, Elizabeth R H, Rizza, James C, Reynolds, Scott M, Paul, Suvimol C, Hill, Kenneth H, Kraemer
Publikováno v:
American journal of medical genetics. Part A. 188(12)
Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder of DNA repair and transcription with developmental delay and abnormalities in brain, eye, skin, nervous, and musculoskeletal systems. We followed a cohort of 37 patients w
Autor:
Alan M. Garber, Phillip Gorden, Rabbi Josef Ekstein, Norman W. Barton, William E. O'Brien, Joel B. Greenhouse, Rex W. Cowdry, John A. Barranger, Mitchell S. Golbus, Barry Z. Wolf, Wesley Wilson, Rina Zaizov, M. Anne Spence, Zach W. Hall, Inese Z. Beitins, Edward I. Ginns, M.Clara Sa Miranda, William H. Hall, Richard A. Moscicki, Philip H. Sheridan, Catherine McKeon, Michael Whyte, Suvimol C. Hill, Pramod K. Mistry, Timothy M. Cox, Johannes M. F. G. Aerts, Peter T. Rowley, Ellen Sidransky, Roscoe O. Brady, Stephen C. Groft, Chapel Hill, Maria New, Ernest Beutler, Marilyn Weeks, Hollak, Robin Ely Berman, Rob Willemsen, James A. Stockman, Edward R.B. McCabe, Sandra L. Schlesinger, Jerry M. Elliott, Gregory A. Grabowski, Duane F. Alexander, Ari Zimran, Gregory M. Pastores, Robert E. Lee, Beth A. Fine, John H. Ferguson, Francis S. Collins, E. M. Carla, Geraldine L. McGrath, Christine M. Eng, Anders Erikson, Judith L. Vaitukaitis, Ian J. Cohen, John E. Ware, Ralph M. Nitkin, Marvin Natowicz, William S. Sly, Henry J. Mankin, Michael M. Kaback, Gary J. Murray, Deborah M. Findling
Publikováno v:
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 275(7), 548-553
ResearcherID
JAMA, 275(7), 548-553. American Medical Association
ResearcherID
JAMA, 275(7), 548-553. American Medical Association
Objective. —To provide physicians with a responsible assessment of the diagnosis and treatment of Gaucher disease. Participants. —A nonfederal, nonadvocate, 14-member panel representing the fields of pediatrics, obstetrics and gynecology, genetic
Autor:
Daniel I. Rosenthal, Samuel H. Doppelt, Henry J. Mankin, James M. Dambrosia, Ramnik J. Xavier, Kenneth A. McKusick, Bruce R. Rosen, John Baker, Loren T. Niklason, Suvimol C. Hill, Stephen P. F. Miller, Roscoe O. Brady, Norman W. Barton
Publikováno v:
Pediatrics. 96:629-637
Objectives. Reversal of the hematologic and visceral abnormalities characteristic of Gaucher disease, the most common lipid storage disorder, with biweekly infusions of macrophage-targeted glucocerebrosidase (glucosylceramidase) is well documented. T
Autor:
Norman W. Barton, Roscoe O. Brady, James M. Dambrosia, Adrian M. Di Bisceglie, Samuel H. Doppelt, Suvimol C. Hill, Henry J. Mankin, Gary J. Murray, Robert I. Parker, Charles E. Argoff, Raji P. Grewal, Kian-Ti Yu
Publikováno v:
New England Journal of Medicine. 324:1464-1470
Gaucher's disease, the most prevalent of the sphingolipid storage disorders, is caused by a deficiency of the enzyme glucocerebrosidase (glucosylceramidase). Enzyme replacement was proposed as a therapeutic strategy for this disorder in 1966. To asse
Autor:
ALFRED E. CHANG, YVEDT L. MATORY, ANDREW J. DWYER, SUVIMOL C. HILL, MARY E. GIRTON, SETH M. STEINBERG, RICHARD H. KNOP, JOSEPH A. FRANK, DAVID HYAMS, JOHN L. DOPPMAN, STEVEN A. ROSENBERG
Twenty patients with extremity soft tissue tumors were prospectively evaluated with magnetic resonance imaging (MRI) and computed tomography (CT) scans with subsequent anatomic correlation of surgical findings. MRI and CT had a similar percentage of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fb8c415851c0185c380f0f5570cbac8
https://europepmc.org/articles/PMC1492735/
https://europepmc.org/articles/PMC1492735/