The effect of magnesium administration on erythrocyte transketolase activity in alcoholic patients treated with thiamine.

Autor: Peake, RWA, Godber, IM, Maguire, D

Publikováno v: Scottish Medical Journal; Aug2013, Vol. 58 Issue 3, p139-142, 4p

Untargeted Metabolomics for Inborn Errors of Metabolism: Development and Evaluation of a Sustainable Reference Material for Correcting Inter-Batch Variability.

Autor: Garrett R; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.; Metabolomics Laboratory, Institute of Chemistry, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil., Ptolemy AS; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Pickett S; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Kellogg MD; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Peake RWA; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.

Publikováno v: Clinical chemistry [Clin Chem] 2024 Oct 04. Date of Electronic Publication: 2024 Oct 04.

Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease.

Autor: de Moraes MBM; Metabolomics Laboratory, Institute of Chemistry, Federal University of Rio de Janeiro, Av. Horácio Macedo 1281, Rio de Janeiro, RJ, 21941-598, Brazil., de Souza HMR; Metabolomics Laboratory, Institute of Chemistry, Federal University of Rio de Janeiro, Av. Horácio Macedo 1281, Rio de Janeiro, RJ, 21941-598, Brazil.; Institute of Chemistry, Fluminense Federal University, Niterói, RJ, Brazil., de Oliveira MLC; Inborn Error of Metabolism Laboratory, Institute of Chemistry, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil., Peake RWA; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Scalco FB; Inborn Error of Metabolism Laboratory, Institute of Chemistry, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil., Garrett R; Metabolomics Laboratory, Institute of Chemistry, Federal University of Rio de Janeiro, Av. Horácio Macedo 1281, Rio de Janeiro, RJ, 21941-598, Brazil. rafael_garrett@iq.ufrj.br.; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. rafael_garrett@iq.ufrj.br.

Publikováno v: Metabolomics : Official journal of the Metabolomic Society [Metabolomics] 2023 Mar 29; Vol. 19 (4), pp. 29. Date of Electronic Publication: 2023 Mar 29.

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.

Autor: Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Alghamdi MA; Medical Genetics Division, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Medical Genetic Division, Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia., Almahroos MA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Alharby E; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia., Almuntashri M; Department of Radiology, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Alshangiti AM; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia., Clément P; Department of Medical Genetics and Mitovasc INSERM 1083, CNRS 6015, Angers University Hospital, Angers, France., Calame DG; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Qebibo L; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique, AP-HP, Sorbonne Université, Hôpital Trousseau, 75012, Paris, France., Burglen L; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique, AP-HP, Sorbonne Université, Hôpital Trousseau, 75012, Paris, France; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR, 1163, F-75015, Paris, France., Doco-Fenzy M; CHU Reims, SFR CAP Sante, EA3801, Reims, France and CHU de Nantes, service de génétique médicale, Nantes, France., Mastrangelo M; Child Neurology and Psychiatry Unit, Department of Human Neuroscience, Sapienza-University of Rome, Rome, Italy., Torella A; Department of Precision Medicine, Università della Campania 'Luigi Vanvitelli' ,Naples, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Manti F; Child Neurology and Psychiatry Unit, Department of Human Neuroscience, Sapienza-University of Rome, Rome, Italy., Nigro V; Department of Precision Medicine, Università della Campania 'Luigi Vanvitelli' ,Naples, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Alban Z; Department of Medical Genetics and Mitovasc INSERM 1083, CNRS 6015, Angers University Hospital, Angers, France., Alharbi GS; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia., Hashmi JA; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia., Alraddadi R; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia., Alamri R; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Magalie B; Department of Medical Genetics and Mitovasc INSERM 1083, CNRS 6015, Angers University Hospital, Angers, France., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX., Geckinli BB; Center of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey., Pehlivan D; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Romito A; Medical Reporting & Genomic Research, CENTOGENE GmbH, Rostock, Germany., Karageorgou V; Medical Reporting & Genomic Research, CENTOGENE GmbH, Rostock, Germany., Martini J; Medical Reporting & Genomic Research, CENTOGENE GmbH, Rostock, Germany., Colin E; Department of Medical Genetics and Mitovasc INSERM 1083, CNRS 6015, Angers University Hospital, Angers, France., Bonneau D; Department of Medical Genetics and Mitovasc INSERM 1083, CNRS 6015, Angers University Hospital, Angers, France., Bertoli-Avella A; Medical Reporting & Genomic Research, CENTOGENE GmbH, Rostock, Germany., Lupski JR; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, Houston, TX., Pastore A; Dementia Research Institute at King's College London, The Wohl Institute, 5 Cutcome Rd, London SE59RT, UK., Peake RWA; Department of Laboratory Medicine, Boston Children's Hospital, Boston, MA., Dallol A; Noor Diagnostics and Discovery, Innovation Cluster, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Alfadhel M; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; Genetics and Precision Medicine Department, King Abdullah Specialized Children Hospital (KASCH), King Abdulaziz Medical City (KAMC), Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Almontashiri NAM; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia; College of Applied Medical Sciences, Taibah University, Almadinah Almunwarah, Saudi Arabia. Electronic address: nmontashri@taibahu.edu.sa.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Feb; Vol. 25 (2), pp. 100323. Date of Electronic Publication: 2022 Nov 19.

Assessment of Glucocerebrosidase Enzyme Activity in Parkinson Disease Using Multiple Approaches.

Autor: Ortega RA; Department of Neurology, Mount Sinai Beth Israel, and Icahn School of Medicine, New York, New York, USA., Bodamer O; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Peake RWA; Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts, USA., Raymond D; Department of Neurology, Mount Sinai Beth Israel, and Icahn School of Medicine, New York, New York, USA., Bressman SB; Department of Neurology, Mount Sinai Beth Israel, and Icahn School of Medicine, New York, New York, USA., Saunders-Pullman R; Department of Neurology, Mount Sinai Beth Israel, and Icahn School of Medicine, New York, New York, USA.

Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Mar; Vol. 37 (3), pp. 655-656. Date of Electronic Publication: 2022 Feb 01.