Results 211 to 220 of about 36,711 (394)

Low rates of endothelial cell dysfunction and transplant‐related mortality in 537 children receiving fludarabine–treosulfan conditioning for all transplant indications: A retrospective multicentre study on behalf of the UK Paediatric BMT group

British Journal of Haematology, EarlyView.
Thomas Altmann, Kanchan Rao, Ramya Hanasoge‐Nataraj, Katharine Patrick, Ben Carpenter, Rachael Hough, Anna‐Maria Ewins, Sanjay Tewari, Oana Mirci‐Danicar, Mary Slatter, Robert Wynn, Su Han Lum   +11 more
wiley   +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

Peritoneal Dialysis Using a Bicarbonate-buffered Dialysate in a Child with an Inborn Error of Metabolism Presenting with Severe Acidosis.

Indian J Crit Care Med, 2020
Kalbhande A, Gajare U, Shanbag P.
europepmc   +1 more source

Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans [PDF]

, 2001
Chike Bellarmine Item, Sylvia Stöckler‐Ipsiroglu, Carmen Stromberger, Adolf Mühl, M. Alessandri, Maria Cristina Bianchi, Michela Tosetti, Francesco Fornai, Giovanni Cioni   +8 more
openalex   +1 more source

Postneonatal epilepsy after acute provoked neonatal seizures: Incidence, predictors, and clinical burden in a multicenter cohort followed through early childhood

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a known potential outcome following acute provoked neonatal seizures, but its onset, treatment patterns, and health care utilization through childhood remain poorly characterized. This study aimed to define the incidence and timing of postneonatal epilepsy, identify perinatal predictors, and describe the clinical burden ...
Adam L. Numis, Hannah C. Glass, Janet S. Soul, Courtney J. Wusthoff, Shavonne L. Massey, Giulia M. Benedetti, Catherine J. Chu, Cameron Thomas, Tayyba Anwar, Monica E. Lemmon, Linda S. Franck, Madison M. Berl, Betsy Pilon, Stephanie M. D. Rau, Yi Li, Julie Sturza, Charles E. McCulloch, Renée A. Shellhaas   +17 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

Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause [PDF]

, 2001
Allan Chiaratti de Oliveira, Amélia Miyashiro Nunes dos Santos, Ana María Martins, Vânia D’Almeida   +3 more
openalex   +1 more source

Hyperlysinaemia. Harmless inborn error of metabolism?

Archives of Disease in Childhood, 1973
H. V. van Gelderen, H. L. Teijema
semanticscholar   +1 more source

Real‐World Unmet Needs of Patients With Haemophilia A and Haemophilia B With or Without Inhibitors: End‐of‐Study Results From the explorer6 Non‐Interventional Study

Haemophilia, EarlyView.
ABSTRACT Introduction Haemophilia is associated with high disease and treatment burdens. Prospective evaluation of data from patients with haemophilia helps understand and define unmet needs, optimise treatment and improve healthcare outcomes. Aim To present end‐of‐study data from explorer6 (NCT03741881), a prospective, non‐interventional study across ...
Allison P. Wheeler, Aby Abraham, Chris Barnes, Renée Brown Frandsen, Roseline d'Oiron, Hermann Eichler, Kingsley Hampton, Francisco José López‐Jaime, Chuhl Joo Lyu, Camila Martins Mazini Tavares, Keiji Nogami, Christopher Sutton, Jerzy Windyga, Bulent Zulfikar, Giancarlo Castaman   +14 more
wiley   +1 more source

Laboratoriumsdiagnostik neurometabolischer Erkrankungen im Kindesalter/Laboratory Diagnostics of Neurological Inborn Errors of Metabolism in Childhood [PDF]

, 2002
GC Korenke
openalex   +1 more source