Results 241 to 250 of about 2,729,552 (357)

A narrative review of metabolomics in the era of "-omics": integration into clinical practice for inborn errors of metabolism. [PDF]

Transl Pediatr, 2022
Hertzog A, Selvanathan A, Devanapalli B, Ho G, Bhattacharya K, Tolun AA.   +5 more
europepmc   +1 more source

Performance of cryptogenic new onset refractory status epilepticus score in a Brazilian cohort after testing for antineuronal antibodies with tissue‐based and cell‐based assays

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to describe a case series of Brazilian new onset refractory status epilepticus (NORSE) patients and evaluate the sensitivity and specificity of a clinical score to predict cryptogenic etiology (c‐NORSE score) after autoimmune encephalitis (AE) testing.
João Henrique Fregadolli Ferreira, Anna Maria Gomes, Ana Carolina Zetehaku, Taissa Ferrari Marinho, Fabio Fieni Toso, Caio César Diniz Disserol, Mariana Braatz Krueger, Mara Lúcia Schmitz Ferreira Santos, Aline Freire Borges Juliano, Tércio Luz Barbosa, Letícia Januzi de Almeida Rocha, Fernando Tenório Gameleira, Renata Barbosa Paolilo, Vanessa Daccach, João Pedro Izidoro Gomes, Katia Lin, Adaucto Wanderley da Nóbrega Jr., Emily Lima Marmentini, Eduardo Ferracioli Fusão, Anderson de Cuffa, Georgia Lelis Aranha Tavares, Ronaldo Maciel Dias, Sabrina Stephanie Lana Diniz, Fábio Siquineli, Pedro Braga‐Neto, Paulo Ribeiro Nobrega, Lorena Pitombeira Sanders, Fernanda Martins Maia Carvalho, Renata Brasileiro Reis Pereira, Eduardo Sousa de Melo, Adélia Maria de Miranda Henriques‐Souza, Clecio de Oliveira Godeiro Jr., Omar Gurrola Arambula, Filipe Nolasco de Souza e Silva, Karla Oliveira Couto, Dayane Danieli, Katia Werneck Seitz, Alessandra Dellavance, Verena Endmayr, Romana Höftberger, Luis Eduardo Coelho Andrade, Luis Otavio Caboclo, Livia Almeida Dutra   +42 more
wiley   +1 more source

Metabolic engineering as therapy for inborn errors of metabolism – development of mice with phenylalanine hydroxylase expression in muscle

, 1998
CO Harding, Krzysztof Wild, David Chang, Albee Messing, JA Wolff   +4 more
openalex   +1 more source

Investigating for Inborn Errors of Metabolism with Tandem Mass Spectrometry in Ankara Region, Turkey: A 2 Years Evaluation [PDF]

, 2004
Leyla Tümer
openalex   +1 more source

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

European Journal of Human Genetics, 2019
R. Navarrete, F. Leal, A. Vega, Ana Morais-López, M. García-Silva, E. Martín‐Hernández, P. Quijada-Fraile, A. Bergua, I. Vives, I. García-Jiménez, R. Yahyaoui, C. Pedrón‐Giner, A. Bélanger-Quintana, S. Stanescu, Elvira Cañedo, Ó. García-Campos, M. Bueno-Delgado, C. Delgado-Pecellín, I. Vitoria, María Dolores Rausell, Elena Balmaseda, M. Couce, L. Desviat, B. Merinero, P. Rodríguez-Pombo, M. Ugarte, C. Pérez‐Cerdá, B. Pérez   +27 more
semanticscholar   +1 more source

Understanding Inborn Errors of Metabolism through Metabolomics. [PDF]

Metabolites, 2022
Driesen K, Witters P.
europepmc   +1 more source

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

Epilepsia, EarlyView.
Abstract Objective A large proportion of pediatric epilepsies have an underlying genetic etiology. Limited studies have explored the efficacy of whole genome sequencing (WGS) in a clinical setting. Our academic–clinical center implemented clinical whole exome sequencing (WES) in 2014, then transitioned to WGS from 2015.
Olivia J. Henry, Sofia Ygberg, Michela Barbaro, Nicole Lesko, Leif Karlsson, Lucía Peña‐Pérez, Ann Båvner, Virpi Töhönen, Anna Lindstrand, Tommy Stödberg, Anna Wedell   +10 more
wiley   +1 more source

Implementing and validating newborn screening for inborn errors of metabolism in South India: a 2-year observational study at a tertiary care hospital. [PDF]

BMJ Public Health
Chikkalingaiah MH, Bevinakoppamath S, Archana SS, Kapa A, Kempegowda SN, Shivashankar KK, Ramachandra SC, K Basavarajaiah S, Nataraj S, Prashant A.   +9 more
europepmc   +1 more source

Contrasting Approaches in the Implementation of GRADE Methodology in Guidelines for Haemophilia and Von Willebrand Disease

Haemophilia, EarlyView.
ABSTRACT Introduction The 2024 ISTH clinical practice guideline (CPG) for treatment of congenital haemophilia, the NBDF‐McMaster Guideline on Care Models for Haemophilia Management, and ASH ISTH NBDF WFH guidelines on the diagnosis and management of VWD all utilised GRADE methodology.
Mark W. Skinner, Manuela Albisetti, Jesús Ardila, Jan Astermark, Jan Blatny, Manuel Carcao, Pratima Chowdary, Nathan T. Connell, Miguel Crato, Yesim Dargaud, Roseline d'Oiron, Amy L. Dunn, Miguel A. Escobar, Carmen Escuriola‐Ettingshausen, Emna Gouider, Annie Harroche, Cedric Hermans, Victor Jimenez‐Yuste, Radoslaw Kaczmarek, Gili Kenet, Liane Khoo, Robert Klamroth, Florian Langer, David Lillicrap, Johnny Mahlangu, Christoph Male, Tadashi Matsushita, Sandrine Meunier, Wolfgang Miesbach, Beatrice Nolan, Johannes Oldenburg, Brian O'Mahony, Margareth Ozelo, Glenn F. Pierce, Gloria Ramos, Michael Recht, Olivia Romero‐Lux, Dawn Rotellini, Rita C. Santoro, Tammuella C. Singleton, Alok Srivastava, Sophie Susen, Kate Talks, Huyen Tran, Leonard A. Valentino, Jerzy Windyga, Renchi Yang, Maria Elisa Mancuso, also on behalf of AICE, AHAD‐AP, AHCDC, ATHN, CLAHT, EHC, French CRH & MHEMO, HTCCNC, NBDF, PEDNET, UKHCDO, WFH   +59 more
wiley   +1 more source

Results of the cord blood transplantation study (COBLT): Clinical outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with inborn errors of metabolism [PDF]

, 2005
Joanne Kurtzberg, S.L. Carter, Indira Sahdev, Donna A. Wall, Daniel Pietryga, John E. Wagner, Nancy A. Kernan   +6 more
openalex   +1 more source