Development of a signs and symptoms outcome measure for caregivers of patients with methylmalonic acidemia and propionic acidemia (MMAPAQ).

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.

The Impact of Early Indication of Living Donor Liver Transplantation on the Outcomes of Patients With Propionic Acidemia: A Single-Center Experience.

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.

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.

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.

Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria.

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.

Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.

Autor: Koeberl D; Duke University School of Medicine, Durham, NC, USA., Schulze A; Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Sondheimer N; Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Lipshutz GS; University of California at Los Angeles (UCLA), Los Angeles, CA, USA., Geberhiwot T; University of Birmingham, Birmingham, UK., Li L; Moderna, Inc., Cambridge, MA, USA., Saini R; Moderna, Inc., Cambridge, MA, USA., Luo J; Moderna, Inc., Cambridge, MA, USA., Sikirica V; Moderna, Inc., Cambridge, MA, USA., Jin L; Moderna, Inc., Cambridge, MA, USA., Liang M; Moderna, Inc., Cambridge, MA, USA., Leuchars M; Moderna, Inc., Cambridge, MA, USA., Grunewald S; Great Ormond Street Hospital for Children and Institute for Child Health, NIHR Biomedical Research Centre, London, UK. Stephanie.Grunewald@gosh.nhs.uk.

Publikováno v: Nature [Nature] 2024 Apr; Vol. 628 (8009), pp. 872-877. Date of Electronic Publication: 2024 Apr 03.