Zobrazeno 1 - 10
of 50 550
pro vyhledávání: '"acidemia"'
Autor:
Silva MP; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Raski CR; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Charrow J; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Baker JJ; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Prada CE; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63659. Date of Electronic Publication: 2024 May 09.
Autor:
Sikirica V; Moderna, Inc., Cambridge, MA, USA. Electronic address: Vanja.Sikirica@modernatx.com., Schwartz EJ; ICON plc, Raleigh, NC, USA. Electronic address: Ethan.Schwartz@iconplc.com., Vockley J; University of Pittsburgh, School of Medicine, Pittsburgh, PA, USA. Electronic address: vockleyg@upmc.edu., Stagni K; Organic Acidemia Association, Golden Valley, MN, USA., Bellenger MA; ICON plc, Raleigh, NC, USA. Electronic address: Alex.Bellenger@iconplc.com., Banerjee G; Moderna, Inc., Cambridge, MA, USA. Electronic address: Geetanjoli.Banerjee@modernatx.com., Durgam N; ICON plc, Raleigh, NC, USA. Electronic address: Neha.Durgam@iconplc.com., Moshkovich O; ICON plc, Raleigh, NC, USA. Electronic address: Olga.Moshkovich@iconplc.com.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108577. Date of Electronic Publication: 2024 Sep 13.
Autor:
Nakao T; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan., Sakamoto S; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan., Shimizu S; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan., Fukuda A; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan., Uchida H; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan., Yanagi Y; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan., Komine R; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan., Kodama T; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan., Ninomiya A; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan., Yamada M; Department for Advanced Medicine for Viral Infections, National Center for Child Health and Development, Tokyo, Japan., Ono H; Department of Cardiology, National Center for Child Health and Development, Tokyo, Japan., Nosaka S; Department of Radiology, National Center for Child Health and Development, Tokyo, Japan., Horikawa R; Department of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan., Kasahara M; Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
Publikováno v:
Pediatric transplantation [Pediatr Transplant] 2024 Dec; Vol. 28 (8), pp. e14886.
Autor:
Bretos-Azcona PE; Product Development and Market Access Consulting, Fortrea, 4 Maguire Street, London, SE1 2NQ, UK., Wallace M; Product Development and Market Access Consulting, Fortrea, 4 Maguire Street, London, SE1 2NQ, UK., Jootun M; Product Development and Market Access Consulting, Fortrea, 4 Maguire Street, London, SE1 2NQ, UK., Jin G; Product Development and Market Access Consulting, Fortrea, 4 Maguire Street, London, SE1 2NQ, UK., Agirrezabal I; Product Development and Market Access Consulting, Fortrea, 4 Maguire Street, London, SE1 2NQ, UK., Szende A; Product Development and Market Access Consulting, Fortrea, 4 Maguire Street, London, SE1 2NQ, UK. agota_szende@hotmail.com.
Publikováno v:
Clinical drug investigation [Clin Drug Investig] 2024 Jun; Vol. 44 (6), pp. 399-412. Date of Electronic Publication: 2024 May 25.
Autor:
Reischl-Hajiabadi AT; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Schnabel E; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Gleich F; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Mengler K; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Lindner M; University Children's Hospital, Frankfurt, Germany., Burgard P; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Posset R; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Lommer-Steinhoff S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany., Thimm E; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Freisinger P; Children's Hospital Reutlingen, Klinikum am Steinenberg Reutlingen, Reutlingen, Germany., Hennermann JB; Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany., Krämer J; Department of Pediatric and Adolescent Medicine, Medical School, Ulm University, Ulm, Germany., Gramer G; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lenz D; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Christ S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Hörster F; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Hoffmann GF; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Garbade SF; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Kölker S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Mütze U; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 674-689. Date of Electronic Publication: 2024 Apr 02.
Autor:
ÖZBEY, Sümeyra Zeynep1 s.zeynepozbey@hotmail.com, GÜNDÜZ, Mehmet2, ÇETİN, İbrahim İlker3, KILIÇ, Esra4, CEYLAN, Ahmet Cevdet5, UZUN, Özlem ÜNAL6, YAVAŞ, Aynur KÜÇÜKÇONGAR1, KÖYLÜ, Oya KIREKER1, YÜREK, Burak1, ÜREY, Gülten Burcu CİVELEK1, GÜRBÜZ, Berrak BİLGİNER1, KASAPKARA, Çiğdem Seher1
Publikováno v:
Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi. May2024, Vol. 18 Issue 3, p153-158. 6p.
Autor:
Peng, Paul1 (AUTHOR) paul.peng@rutgers.edu, Manini, Alex F.2 (AUTHOR)
Publikováno v:
International Journal of Emergency Medicine. 4/22/2024, Vol. 17 Issue 1, p1-8. 8p.
Akademický článek
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Autor:
Zhe Yin, Chuan Zhang, Rui Dong, Xinyuan Zhang, Yingnan Song, Shengju Hao, Zhongtao Gai, Bingbo Zhou, Ling Hui, Shifan Wang, Huiqin Xue, Zongfu Cao, Yi Liu, Xu Ma
Publikováno v:
European Journal of Medical Research, Vol 29, Iss 1, Pp 1-11 (2024)
Abstract Background Methylmalonic acidemia (MMA) is one of the most common hereditary organic acid metabolism disorders that endangers the lives and health of infants and children. Early detection and intervention before the appearance of a newborn
Externí odkaz:
https://doaj.org/article/cec8231e7f7046a1941835158df57573
Autor:
Baek R; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA., Coughlan K; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA., Jiang L; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA., Liang M; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA., Ci L; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA., Singh H; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA., Zhang H; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA., Kaushal N; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA., Rajlic IL; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA., Van L; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA., Dimen R; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA., Cavedon A; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA., Yin L; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA., Rice L; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA., Frassetto A; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA., Guey L; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA. Lin.Guey@modernatx.com., Finn P; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA. Patrick.Finn@modernatx.com., Martini PGV; Moderna, Inc., 200 Technology Square, Cambridge, MA, 02139, USA. Paolo.Martini@modernatx.com.
Publikováno v:
Nature communications [Nat Commun] 2024 May 07; Vol. 15 (1), pp. 3804. Date of Electronic Publication: 2024 May 07.