Results 131 to 140 of about 20,351 (260)

Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management. [PDF]

Orphanet J Rare Dis
Harings T, Bertsche T, Thiele AG, Kiess W, Bertsche A, Beblo S, Neininger MP.   +6 more
europepmc   +1 more source

Shikimate pathway disruption in yeast induces metabolite self‐assembly into toxic aggregates

The FEBS Journal, EarlyView.
In Saccharomyces cerevisiae, shikimate pathway disruption induces toxic metabolite assemblies. Deleting ARO4 plus phenylalanine (Phe) feeding causes Phenylalanine accumulation, lowers ARO3 activity, and triggers amyloid‐like fibril formation. Deleting ARO3 plus tyrosine (Tyr) feeding leads to Tyrosine buildup and similar fibril assembly.
Hanaa Adsi, Myra Gartner, Claris Simovich, Lihi Gershon, Alexander Brandis, Ehud Gazit, Dana Laor Bar‐Yosef   +6 more
wiley   +1 more source

Dietary Inflammatory Index and Nutritional Status in Children with Inborn Errors of Metabolism on Protein-Restricted Diets. [PDF]

Nutrients
Aktaş E, Çiçek B, Okur I, İnci A, Tümer L.   +4 more
europepmc   +1 more source

Energetic stress in combination with impaired fatty acid oxidation induces sequestration of CoA and adaptation of CoA metabolism

The FEBS Journal, EarlyView.
Computational modelling and in vitro liver cell experiments indicate that medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency causes an accumulation of (especially medium‐chain) acyl‐CoAs at the cost of free CoA (CoASH). A substantial decrease in CoASH impairs flux through many pathways essential for energy homeostasis.
Ligia Akemi Kiyuna, Christoff Odendaal, Madhulika Singh, Albert Gerding, Miriam Langelaar‐Makkinje, Marianne van der Zwaag, Asmara Drachman, Vladimíra Cetkovská, Gaby Liem Foeng Kioen, Anne‐Claire M. F. Martines, Nicolette C. A. Huijkman, Hein Schepers, Bart van de Sluis, Dirk‐Jan Reijngoud, Ody C. M. Sibon, Amy C. Harms, Thomas Hankemeier, Barbara M. Bakker   +17 more
wiley   +1 more source

Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China. [PDF]

Front Genet
Zhang H, Tian H, Dai W, Zhang L, Guo G, Ding G.   +5 more
europepmc   +1 more source

A pragmatic approach to the diagnosis of inborn errors of metabolism in developing countries. [PDF]

Afr J Lab Med, 2023
Anetor JI, Orimadegun BE, Anetor GO.
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

Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism. [PDF]

JIMD Rep
Selvanathan A, Nazir S, van Wyk K, Simpson E, Holmes V, Hutton R, White F, Schwahn BC.   +7 more
europepmc   +1 more source

Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options. [PDF]

Cells, 2023
Bremova-Ertl T, Hofmann J, Stucki J, Vossenkaul A, Gautschi M.   +4 more
europepmc   +1 more source

Laboratory and Medicine 2.1: Care for What You Wish for

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Over the past few decades, healthcare has made remarkable advances. Across nearly all fields, diseases are better understood, and diagnostic and therapeutic options have expanded dramatically. Laboratory medicine is also developing at a rapid pace and is playing an increasingly central role in the diagnostic process, as well as in the ...
Marcel Levi
wiley   +1 more source