Results 171 to 180 of about 2,125,068 (305)

Genomic sequencing and the urgency of early diagnosis in inborn errors of metabolism. [PDF]

Pediatr Res
Wild KT, Pediatric Policy Council, Spinner NB.   +2 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

Interplay of anemia in inborn errors of energy metabolism. [PDF]

Sci Rep
Shetye S, Bhat YR, Lewis LES, Patil A, Bhaskaranand N, Varashree BS, Kamath SU.   +6 more
europepmc   +1 more source

Continuous glucose monitoring detects spontaneous reactive and fasting hypoglycaemia in cystic fibrosis adults without diabetes

Internal Medicine Journal, EarlyView.
Abstract People with cystic fibrosis (pwCF) experience a spectrum of glucose disorders. Spontaneous hypoglycaemia is a unique entity affecting pwCF and can be an incidental finding on biochemistry. Our prospective, single‐arm pilot study of eight pwCF without confirmed diabetes and incidental biochemical hypoglycaemia found 62.5% demonstrated fasting ...
Shanal Kumar, Karen Hay, Felicity Loel, Angela Matson   +3 more
wiley   +1 more source

Are Selenium Status and Inflammation Linked to Cardiometabolic Risk Factors in Inborn Errors of Immunity? [PDF]

Nutrients
Rossi RGT, Pereira L, Suano-Souza FI, Andrade IGA, Prado RD, Aranda CS, Previdelli AN, Sarni ROS, Terreri MT.   +8 more
europepmc   +1 more source

Exploring the associations of overweight and obesity with pregnancy outcomes in type 1 and type 2 diabetes: An Australian retrospective cohort study

Journal of Diabetes Investigation, EarlyView.
ABSTRACT Objective To explore the associations of maternal overweight/obesity and pre‐pregnancy body mass index (BMI) on glycemia and pregnancy outcomes in women with pregestational type 1 diabetes mellitus (T1DM) or type 2 diabetes mellitus (T2DM). Research Design and Methods We examined prospectively collected data (2010–2019) involving 264 singleton
Xi May Zhen, Glynis Ross, Amanda Gauld, Arianne Sweeting, Alberto Nettel‐Aguirre, Stephanie Noonan, Maria Constantino, Anna‐Jane Harding, Adam Mackie, Hend Chatila, Margaret McGill, Timothy Middleton, Ted Wu, Stephen M. Twigg, Jencia Wong   +14 more
wiley   +1 more source

Comment on Autoimmune Complications of Lymphoproliferative Diseases. [PDF]

Hematol Oncol
Balaban YA.
europepmc   +1 more source

Human cerebral arterial morphogenesis explored by 3D microscopic imaging of cleared embryos: Bridging the gap between embryonic and adult anatomy

Journal of Anatomy, EarlyView.
We provide a description of human embryonic cerebral arterial development based on whole‐mount immunostaining, tissue clearing, three‐dimensional (3D) light‐sheet microscopy imaging, and anatomically informed virtual segmentation of human embryos. Findings are compared with adult radiological anatomy. We provide a detailed account of the development of
Eimad Shotar, Raphaël Blain, Aymeric Nadjem, Nermine Saidi, Megumi Inoue, Daniel Smith‐Paredes, Miccaella Vergara, Armelle Lesaunier, Quentin Rappeneau, Joséphine Blevinal, Gérard Couly, Julien Burel, Julien Allard, Kevin Premat, Stéphanie Lenck, Pierre‐Marie Chiaroni, Erwah Kalsoum, Maryne Toupin, Séverine Mazaud‐Guittot, Diane Rebourcet, Paolo Giacobini, Olivier Naggara, Hugo Gortais, Grégoire Boulouis, Alexis Guédon, Philippe Gailloud, Frédéric Glicenstein, Anaïs Favre, Frédéric Clarençon, Yorick Gitton, Alain Chédotal   +30 more
wiley   +1 more source

Severe Methylmalonic Acidemia Precipitated by Dietary B12 Deficiency in Vegan Toddler. [PDF]

Pediatr Rep
Edwell A, Bessler S, Burke S.
europepmc   +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