Results 191 to 200 of about 24,798 (312)

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

TFRC Germline Variants and Inborn Error of Immunity: Mechanistic Insights into Iron-Immune Crosstalk. [PDF]

J Clin Immunol
Aljohani AH.
europepmc   +1 more source

Pantethine therapy dramatically rescues end‐stage failing heart in a patient with deficiency of coenzyme A biosynthesis

ESC Heart Failure
Violette Goetz, Bruno Lefort, Magalie Barth, Naïg Gueguen, Céline Bris, Emmanuelle Blanchard, Isabelle Benz‐de Bretagne, Hélène Blasco, Marine Tardieu, François Labarthe   +9 more
doaj   +1 more source

The 2025 ATS/ERS update of the international multidisciplinary classification of the interstitial pneumonias: implications for the pathologist

Histopathology, EarlyView.
This review highlights changes relevant to pathologists in the updated multidisciplinary classification of interstitial pneumonias. Changes include expansion beyond idiopathic disease, subclassification as interstitial (fibrotic vs non‐fibrotic) and alveolar filling disorders, expansion to include additional patterns (e.g.
Andrew G Nicholson, Wendy A. Cooper, Aurelie Fabre, William Travis, Lida P. Hariri, Ayodeji Adegunsoye, Sara Piciucchi, Christopher J Ryerson   +7 more
wiley   +1 more source

Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening. [PDF]

Diagnostics (Basel)
Osman SA, Malki A, Al-Sulaiti H, Al-Dirbashi OY, Elrayess MA.   +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

Autoimmunity and inborn errors of immunity: a complex coexistence. [PDF]

Front Immunol
Elamine A, Benhsaien I, Ailal F, Hbibi M, Fahi M, Bousfiha AA, El Bakkouri J.   +6 more
europepmc   +1 more source

ANALYTICAL METHODS DEVELOPMENT FOR THE DIAGNOSIS OF INBORN ERRORS OF METABOLISM

, 2008
Veneziano, Maria
core  

High‐quality genome of elite peanut cultivar ZH05 reveals subgenome asymmetry, pan‐genome diversity, and breeding insights

Journal of Integrative Plant Biology, EarlyView.
A high‐quality reference genome for the elite peanut cultivar Zhonghua No. 5 revealed differing evolutionary paths between the two peanut subgenomes. SubA has higher overall gene expression and more open chromatin, whereas SubB has stronger structural organization, higher DNA methylation, and greater adaptive diversity associated with peanut evolution ...
Taihua Yang, Nian Liu, Li Huang, Jianbin Guo, Xiaomeng Xue, Mingjun Wang, Xiaohan Zhang, Chengtao Quan, Enyou Feng, Jiazhuang Tan, Zhenzhen Zhang, Yu You, Youlin Xia, Dongxin Huai, Yuning Chen, Liyin Yan, Kede Liu, Huifang Jiang, Yong Lei, Boshou Liao   +19 more
wiley   +1 more source

Cutaneous Manifestations of Inborn Errors of Immunity: Clinical Clues to Immune Disorders. [PDF]

Medicina (Kaunas)
Napiorkowska-Baran K, Pastuszczak M, Płocka-Karpińska M, Tykwińska M, Treichel P, Margossian GA, Margossian CL, Rogalska A, Czajkowski R.   +8 more
europepmc   +1 more source