Results 161 to 170 of about 26,855 (306)

Mothers' Lived Experience of Caring for Children with Inborn Errors of Amino Acid Metabolism [PDF]

, 2022
Sara Shirdelzade, Abbas Heydari, Monir Ramezani, Peyman Eshraghi   +3 more
openalex   +1 more source

Interrelatedness of Neurocognitive Domain Functioning Between Unprompted and Prompted Identification Testing With Psychophysical Olfactory Evaluation in a Post‐COVID‐19 Cohort

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective Assessment of olfactory function with psychophysical testing requires cognitive demand to correctly pair test odors with remembered scents. Individuals suffering from long‐Corona Virus Disease 2019 (long‐COVID‐19) may develop a decline in neurocognitive performance, which may be concurrent with persistent olfactory dysfunction (OD ...
Jeremy P. Tervo, Patricia T. Jacobson, Brandon J. Vilarello, Tiana M. Saak, Francesco F. Caruana, Liam W. Gallagher, Joseph B. Gary, David A. Gudis, Paule V. Joseph, Tse‐Hwei Choo, Davangere P. Devanand, Terry E. Goldberg, Jonathan B. Overdevest   +12 more
wiley   +1 more source

Estimation of the global burden of autosomal recessive rare inborn errors of metabolism [PDF]

Sorbojit Mondal, Atanu Kumar Dutta, Kalyan Goswami   +2 more
openalex   +1 more source

The Postnatal outcomES of Fetal Cortical mAlformations (PESCA) Study: A Multicentre Historical Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objectives To provide further evidence on the outcomes associated with fetal malformations of cortical development (MCD), currently informed by data from symptomatic paediatric cohorts, this study provides a new classification system. Design Multicentre retrospective cohort study.
Natalia Abadia‐Cuchi, Francesca Felici, Sophie Arulkumaran, Faraan Khan, Paolo Frassanito, Andrea Dall'Asta, Elvira di Pasquo, Elisa Bevilacqua, Amarnath Bhide, Tullio Ghi, Matia Martucci, Simona Gaudino, Basky Thilaganathan, Alessandra Familiari   +13 more
wiley   +1 more source

Biotin Status of Epileptics [PDF]

, 1985
Achuta Murthy P. N., Berlit P., Blass J. P., Bonjour J.-P., Bonjour J.-P., Caspers H., Frigg M., Ghatak N. R., Glaser G. H., Iivanainen M., Johnston D., Krause K.-H., Krause K.-H., Krause K.-H., Meinardi H., Mock D. M., Munoz-Garcia D., Noll F., Patel M. S., Paulsen E. P., Reynolds E. H., Sander J. E., Schmidt D., Scorn D., Selhorst J. B., Sweetman L., Sydenstricker V. P., Thoene J., Vivo D. C., Watanabe T., Wolf B., Woodbury D. M., Woodbury D. M., Woodbury D. M.   +33 more
core   +1 more source

Elevated beta‐hydroxybutyrate within a pediatric population and its associated pathology: A retrospective case series

Journal of Forensic Sciences, EarlyView.
Abstract Elevated beta‐hydroxybutyrate (BHB) is a marker for ketoacidosis. Post‐mortem values for the diagnosis of fatal ketoacidosis and the associated clinical and histologic findings are limited in the pediatric population. A retrospective case series of pediatric autopsy records and histology slides was conducted.
Nasim Haghandish, Anthea Girdwood, Christopher Milroy, Jacqueline Parai   +3 more
wiley   +1 more source

Hormonal Crossroads in Inborn Errors of the Metabolism Impact of Puberty and Dietary Interventions on Metabolic Health [PDF]

Thomas Lundqvist, Rasmus Stenlid, Maria Halldin   +2 more
openalex   +1 more source

Chromosome‐scale genome assembly of the South American fruit fly, Anastrepha fraterculus sp.1

Insect Science, EarlyView.
Anastrepha fraterculus sp. 1 is a major fruit fly pest in Argentina, currently controlled through chemical treatments and traps. This study aims to enhance the genomic understanding of this species to support the development of sterile insect technique as well as the use of innovative technologies.
Máximo Rivarola, Claudia A. Conte, Pierre Berube, Shu‐Huang Chen, M. Cecilia Giardini, Alejandra C. Scannapieco, Fabián H. Milla, María C. Soria, Romina M. Russo, Juan P. Wulff, Haig H. Djambazian, Rolando R. Pomar, Alfred M. Handler, Kostas Bourtzis, Ioannis Ragoussis, Silvia B. Lanzavecchia   +15 more
wiley   +1 more source

Differences in prediction of adverse perinatal outcome in term pregnancies by choice of fetal growth reference: A validation study

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
In this study of 1 126 059 pregnancies, we find evidence of comparable predictive ability for adverse perinatal outcomes across four fetal growth references, but with notable differences in sensitivity and false positive rate (FPR). The WHO reference demonstrated balanced performance in detecting at‐risk fetuses, suggesting its suitability for clinical
Linda Lindström, Fredrik Ahlsson, Ove Axelsson, Michaela Granfors, Erik Lampa, Maria Nelander, Anna‐Karin Wikström   +6 more
wiley   +1 more source

Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism [PDF]

, 2020
Dylan Mordaunt, David J. Cox, Maria Fuller   +2 more
openalex   +1 more source