cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant.

Autor: Schwahn BC; Willink Metabolic Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, UK. Electronic address: bernd.schwahn@mft.nhs.uk., Hart C; Department of Clinical Chemistry, Sheffield Children's Hospital, South Yorkshire and Bassetlaw Pathology, Sheffield, UK., Smith LA; Department of Clinical Chemistry, Sheffield Children's Hospital, South Yorkshire and Bassetlaw Pathology, Sheffield, UK., Hart A; Paediatric Neurology, King's College Hospital NHS Foundation Trust, London, UK., Fairbanks L; Purine Research Lab, Biochemical Sciences, Synnovis, Guys & St Thomas' NHS Foundation Trust, London, UK., Arenas-Hernandez M; Purine Research Lab, Biochemical Sciences, Synnovis, Guys & St Thomas' NHS Foundation Trust, London, UK., Turner C; WellChild Laboratory, Evelina London Children's Hospital, St Thomas' Hospital, London, UK., Horman A; Willink Metabolic Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Department of Chemical Pathology, Great Ormond Street Hospital, London, UK., Rust S; Paediatric Neuropsychology Service, Harrington Building, Royal Manchester Children's Hospital, UK., Santamaria-Araujo JA; Department of Biochemistry, University of Cologne, Cologne, Germany., Mayr SJ; Department of Biochemistry, University of Cologne, Cologne, Germany., Schwarz G; Department of Biochemistry, University of Cologne, Cologne, Germany., Sharrard M; Metabolic Department, Sheffield Children's Hospital, Sheffield, UK.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Dec; Vol. 143 (4), pp. 108598. Date of Electronic Publication: 2024 Oct 29.

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.

Autor: Schwahn BC; Division of Evolution & Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., van Spronsen F; Department of Metabolic Diseases, Beatrix Children's, University Medical Center (UMC) Groningen, Groningen, Netherlands., Misko A; Massachusetts General Hospital Department of Neurology, Boston, Massachusetts, USA., Pavaine J; Department of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, University of Manchester, Manchester, UK.; Division of Informatics, Imaging & Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Holmes V; Willink Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Spiegel R; Department of Pediatrics Unit B, Emek Medical Center, Afula, Israel., Schwarz G; Center for Molecular Medicine Cologne, Köln, Germany., Wong F; Monash Children's Hospital/Hudson Institute of Medical Research/Monash University, Melbourne, Victoria, Australia., Horman A; Great Ormond Street Hospital, London, UK., Pitt J; Victorian Clinical Genetics Services, The Royal Children's Hospital, Parkville, Victoria, Australia., Sass JO; RG Inborn Error of Metabolism, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany., Lubout C; Department of Metabolic Diseases, Beatrix Children's, University Medical Center (UMC) Groningen, Groningen, Netherlands.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 598-623. Date of Electronic Publication: 2024 Apr 16.

Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke-Like Episodes: Correspondence.

Autor: Finsterer J; Department of Neurology, Neurology and Neurophysiology Centre, Postfach 20, 1180, Vienna, Austria. fifigs1@yahoo.de.

Publikováno v: Indian journal of pediatrics [Indian J Pediatr] 2024 Jul; Vol. 91 (7), pp. 756. Date of Electronic Publication: 2024 Jan 19.

Teaching NeuroImage: A 2-Year-Old Girl With Molybdenum Cofactor Deficiency.

Autor: Duan J; From the Department of Pediatrics, the First Affiliated Hospital of Anhui Medical University, Hefei, China.

Publikováno v: Neurology [Neurology] 2024 Apr 23; Vol. 102 (8), pp. e209317. Date of Electronic Publication: 2024 Mar 25.

Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke-Like Episodes.

Autor: Markose AP; Department of Pediatrics, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India. drknvraju08@gmail.com., Reddy VS; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India., Srinivasan VM; Department of Clinical Genetics, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India.

Publikováno v: Indian journal of pediatrics [Indian J Pediatr] 2024 May; Vol. 91 (5), pp. 527. Date of Electronic Publication: 2023 Dec 28.