Results 191 to 200 of about 38,522 (353)

Parents' Perceptions Regarding Their Children's Medications and Expert-Assessed Drug-Related Problems in Pediatric Patients with Inborn Errors of Metabolism. [PDF]

Children (Basel), 2023
Harings T, Neininger MP, Eisenhofer S, Thiele AG, Kiess W, Bertsche A, Beblo S, Bertsche T.   +7 more
europepmc   +1 more source

Liver transplantation and portacaval shunt in genetic diseases [PDF]

, 1982
Starzl, TE
core  

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

Editorial: Nutritional management of patients with inborn errors of metabolism. [PDF]

Front Nutr
Pedrón-Giner C, Aldamiz-Echevarria L, Couce ML.   +2 more
europepmc   +1 more source

β‐Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine [PDF]

, 2001
Sytske H. Moolenaar, Gudrun Göhlich‐Ratmann, Udo F. H. Engelke, Manfred Spraul, Eberhard Humpfer, Péter Dvortsák, Thomas Voït, Georg F. Hoffmann, Christa Bräutigam, André B. P. Kuilenburg, Albert van Gennip, P. Vreken, Ron A. Wevers   +12 more
openalex   +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

Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism. [PDF]

Clin Transl Sci, 2023
Hon YY, Wang J, Abodakpi H, Balakrishnan A, Pacanowski M, Chakder S, Smpokou P, Donohue K, Wang YC.   +8 more
europepmc   +1 more source

Effect of adrenocorticotropin or adenosin-3',5'-monophosphate on in vitro adrenal synthesis [PDF]

, 1964
Scriba, Peter Christian
core   +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