Results 181 to 190 of about 167,513,957 (289)

Editorial: Newborn screening for inborn errors of metabolism volume II. [PDF]

Front Pediatr
Elmonem MA, van den Heuvel LP.
europepmc   +1 more source

International consensus recommendations for identifying malnutrition in children with neurological impairment

Developmental Medicine &Child Neurology, EarlyView.
Abstract Children with neurological impairment (CNI) are at increased risk of malnutrition because of functional, medical, and socioeconomic challenges. However, difficulties in obtaining reliable anthropometric measurements and differences in body composition limit the usefulness of conventional nutritional indicators.
Sarah Vermilyea, Jodi Wolff, Gina Rempel, Jessie M. Hulst, Koen Huysentruyt, Mandy Neudecker, Denise Kennedy, Valérie Marchand, Erika Ochoa‐Ortiz, Richard D. Stevenson, Promoting International Collaboration for Nutrition in Neurological Impairment in Children (PICNNIC) Working Group, Lucinda Lourens, Mark Conaway, Tejas S. Desai, Mercedes Ruiz Brunner, Nathalia Sanchez Vargas, Valeria Martinez Tenorio, Kristie L. Bell, Claudio Romano, Richard Grossberg   +19 more
wiley   +1 more source

Mapping the landscape of treatable inborn errors of metabolism: a systematic gene-level evaluation based on the ICIMD classification. [PDF]

Orphanet J Rare Dis
Fatima T, Khan J, Al-Jasmi F, Alblooshi H.   +3 more
europepmc   +1 more source

Historical Perspectives, Classification and Diagnostic Approaches of Inborn Errors of Metabolism: A Systematic Review and Meta-Analysis. [PDF]

Metabolites
Mutamuliza J, Gori E, Mutesa L, Debray FG.   +3 more
europepmc   +1 more source

Immune dysregulation syndrome associated with inborn errors of metabolism - hemophagocytic lymphohistiocytosis in the context of isovaleric acidemia: a case report. [PDF]

Front Pediatr
Fuenmayor F, Chávez S, Ortíz S, Guerrero M, Orellana M, Veintimilla D, Fernández I, Meza L.   +7 more
europepmc   +1 more source

Sirolimus is effective for paediatric Evans syndrome and secondary autoimmune cytopenias: A retrospective cohort study

British Journal of Haematology, EarlyView.
Maggie McNeill, Camilla Cellarius, Nethmi Illamperuma, Rachelle Zipper, Clarisse Carcao, Jillian M. Baker, Sheila Butchart, Michelle Fantauzzi, Caroline Malcolmson, Reena Pabari, Diandra Rollan, Kathleen Qu, Manuel Carcao   +12 more
wiley   +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

Health education needs of pregnant women regarding newborn inborn errors of metabolism based on a social ecological model: a qualitative study. [PDF]

Front Public Health
Yang H, He F, Xia D, Wang X, Guan Y, Liu H.   +5 more
europepmc   +1 more source

Advances in Cytosolic dsRNA Sensing of Viral Infections

Immunology &Cell Biology, EarlyView.
Activation of cytosolic dsRNA sensors by viral infection generates multiple outcomes. dsRNA generated during viral infection, either of viral origin or from endogenous sources, can activate multiple cytosolic dsRNA sensors. Activation of PKR critically induces protein translation shutdown via phosphorylation of eukaryotic translation initiation factor ...
Sofia Maceratessi, Natalia G. Sampaio
wiley   +1 more source

In Vivo Base Editing for Neonatal Inborn Errors of Metabolism: Clinical Progress, N-of-1 Therapy, and the Ethics of Bespoke Genetic Medicine. [PDF]

Cureus
Li OM, Li Y, Li SXT.
europepmc   +1 more source