Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Longo, Nicola"'
Autor:
Feillet F; Hôpital d'enfants Brabois, INSERM 1256 NGERE, Faculty of Medicine, Vandoeuvre les Nancy, France., Ficicioglu C; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Lagler FB; Institute of Inherited Metabolic Diseases and Department of Pediatrics, Paracelsus Medical Private University, Salzburg, Austria., Longo N; University of Utah, Salt Lake City, Utah, USA., Muntau AC; University Children's Hospital, Medical Center Hamburg-Eppendorf, Hamburg, Germany., Burlina A; University Hospital, Padova, Italy., Trefz FK; Division of Inborn Metabolic Diseases, University Children's Hospital, Department of General Pediatrics, Heidelberg, Germany., van Spronsen FJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center of Groningen, University of Groningen, Groningen, The Netherlands., Arnoux JB; Necker-Enfants Malades University Hospital, Paris, France., Lindstrom K; BioMarin Pharmaceutical Inc, Novato, California, USA., Lilienstein J; BioMarin Pharmaceutical Inc, Novato, California, USA., Clague GE; BioMarin Pharmaceutical Inc, Novato, California, USA., Rowell R; BioMarin Pharmaceutical Inc, Novato, California, USA., Burton BK; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 636-650. Date of Electronic Publication: 2024 Mar 03.
Autor:
Waisbren S; Harvard Medical School, Boston Children's Hospital, Boston, MA, USA., Burton BK; Ann & Robert H. Lurie Children's Hospital, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Feigenbaum A; The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Konczal LL; Center for Human Genetics, University Hospitals Cleveland Medical Center and Case Western Reserve University, Cleveland, OH, USA., Lilienstein J; BioMarin Pharmaceutical Inc., Novato, CA, USA., McCandless SE; Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Children's Hospital Colorado, Aurora, CO, USA., Rowell R; BioMarin Pharmaceutical Inc., Novato, CA, USA., Sanchez-Valle A; Division of Genetics and Metabolism, University of South Florida, Tampa, FL, USA., Whitehall KB; BioMarin Pharmaceutical Inc., Novato, CA, USA., Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA. Electronic address: nicola.longo@hsc.utah.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2021 Feb; Vol. 132 (2), pp. 119-127. Date of Electronic Publication: 2021 Jan 13.
Autor:
Longo N; Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA. Nicola.Longo@hsc.utah.edu., Dimmock D; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Levy H; Division of Genetics and Genomics, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA., Viau K; Division of Genetics and Genomics, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA., Bausell H; Division of Clinical Nutrition & Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Bilder DA; Department of Psychiatry, University of Utah, Salt Lake City, UT, USA., Burton B; Department of Medical Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Gross C; Department of Pediatrics, University of Florida, Gainesville, FL, USA., Northrup H; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA., Rohr F; Nutrition Center, Boston Children's Hospital, Boston, MA, USA., Sacharow S; Division of Genetics and Genomics, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA., Sanchez-Valle A; Division of Genetics and Metabolism, University of South Florida, Tampa, FL, USA., Stuy M; Department of Medical and Molecular Genetics, IU School of Medicine, Indianapolis, IN, USA., Thomas J; Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA., Vockley J; Department of Pediatrics University of Pittsburgh School of Medicine, Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, USA., Zori R; Division of Genetics and Metabolism, University of Florida, Gainesville, FL, USA., Harding CO; Departments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, OR, USA.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Aug; Vol. 21 (8), pp. 1851-1867. Date of Electronic Publication: 2018 Dec 14.
Autor:
Zori R; Department of Pediatrics in the College of Medicine, University of Florida, Gainesville, FL, USA. Electronic address: zorirt@pegs.ufl.edu., Thomas JA; Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA., Shur N; Pediatrics Genetics Group, Albany Medical Center, Albany, NY, USA., Rizzo WB; Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA., Decker C; BioMarin Pharmaceutical Inc., Novato, CA, USA., Rosen O; BioMarin Pharmaceutical Inc., Novato, CA, USA., Li M; BioMarin Pharmaceutical Inc., Novato, CA, USA., Schweighardt B; BioMarin Pharmaceutical Inc., Novato, CA, USA., Larimore K; BioMarin Pharmaceutical Inc., Novato, CA, USA., Longo N; Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2018 Nov; Vol. 125 (3), pp. 217-227. Date of Electronic Publication: 2018 Aug 23.
Autor:
Harding CO; Molecular and Medical Genetics, Oregon Health & Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239, USA. Electronic address: hardingc@ohsu.edu., Amato RS; Medical Genetics and Metabolism, University of Kentucky, 138 Leader Avenue, #119-130, Lexington, KY 40506, USA. Electronic address: stephen.amato@uky.edu., Stuy M; Department of Medical and Molecular Genetics, Indiana University, 975 W Walnut St, Research and Library Building IB 130, Indianapolis, IN 46202, USA. Electronic address: mstuy@iu.edu., Longo N; Department of Pediatrics, Division of Medical Genetics, University of Utah, 295 Chipeta Way, Salt Lake City, UT 84108, USA. Electronic address: Nicola.Longo@hsc.utah.edu., Burton BK; Department of Pediatrics, Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E Chicago Ave, Chicago, IL 60601, USA. Electronic address: bburton@luriechildrens.org., Posner J; Department of Life Sciences and Medicine, King's College London Strand, Franklin Wilkins Building, Stamford Street, London, UK. Electronic address: john.posner@talk21.com., Weng HH; BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA. Electronic address: holly.weng@bmrn.com., Merilainen M; BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA. Electronic address: mmerilainen@bmrn.com., Gu Z; BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA. Electronic address: kgu@bmrn.com., Jiang J; BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA. Electronic address: joy.jiang@bmrn.com., Vockley J; Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh and Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address: vockleyg@upmc.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2018 May; Vol. 124 (1), pp. 20-26. Date of Electronic Publication: 2018 Mar 18.
Autor:
Longo N; University of Utah, Salt Lake City, UT, USA. Electronic address: nicola.longo@hsc.utah.edu., Harding CO; Oregon Health & Sciences University, Portland, OR, USA., Burton BK; Ann and Robert H Lurie Children's Hospital and Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Grange DK; Washington University School of Medicine, St Louis, MO, USA., Vockley J; University of Pittsburgh School of Medicine, PA, USA., Wasserstein M; Mount Sinai School of Medicine, New York, NY, USA., Rice GM; University of Wisconsin, Madison, WI, USA., Dorenbaum A; BioMarin Pharmaceutical, Novato, CA, USA., Neuenburg JK; BioMarin Pharmaceutical, Novato, CA, USA., Musson DG; BioMarin Pharmaceutical, Novato, CA, USA., Gu Z; BioMarin Pharmaceutical, Novato, CA, USA., Sile S; BioMarin Pharmaceutical, Novato, CA, USA.
Publikováno v:
Lancet (London, England) [Lancet] 2014 Jul 05; Vol. 384 (9937), pp. 37-44. Date of Electronic Publication: 2014 Apr 14.
Autor:
Bilder DA; Department of Psychiatry, Division of Child and Adolescent Psychiatry, University of Utah School of Medicine, Salt Lake City, UT, USA. deborah.bilder@hsc.utah.edu, Burton BK, Coon H, Leviton L, Ashworth J, Lundy BD, Vespa H, Bakian AV, Longo N
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2013 Mar; Vol. 108 (3), pp. 155-60. Date of Electronic Publication: 2012 Dec 31.
Autor:
Viau KS; Department Pediatrics, University of Utah, Salt Lake City, UT, USA. krista.viau@hsc.utah.edu, Wengreen HJ, Ernst SL, Cantor NL, Furtado LV, Longo N
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2011 Aug; Vol. 34 (4), pp. 963-71. Date of Electronic Publication: 2011 May 10.
Autor:
Trefz FK; Klinik für Kinder-und Jugendmedizin Reutlingen, Klinikum am Steinenberg, Reutlingen, Germany. ftrefz@ramedis.de, Burton BK, Longo N, Casanova MM, Gruskin DJ, Dorenbaum A, Kakkis ED, Crombez EA, Grange DK, Harmatz P, Lipson MH, Milanowski A, Randolph LM, Vockley J, Whitley CB, Wolff JA, Bebchuk J, Christ-Schmidt H, Hennermann JB
Publikováno v:
The Journal of pediatrics [J Pediatr] 2009 May; Vol. 154 (5), pp. 700-7. Date of Electronic Publication: 2009 Mar 04.
Autor:
Whitehall, Kaleigh B., Rose, Sarah, Clague, Gillian E., Ahring, Kirsten K., Bilder, Deborah A., Harding, Cary O., Hermida, Álvaro, Inwood, Anita, Longo, Nicola, Maillot, François, Muntau, Ania C., Pessoa, André L. S., Rocha, Júlio C., Rohr, Fran, Sivri, Serap, Said, Jack, Oshinbolu, Sheun, Sibbring, Gillian C.
Publikováno v:
Orphanet Journal of Rare Diseases; 8/12/2024, Vol. 19 Issue 1, p1-51, 51p