Results 41 to 50 of about 174,613,300 (296)

Amino Acid Deficiency Secondary to Continuous Venovenous Hemofiltration in Acute Decompensation of Organic Acidemias: An Anabolic Dead End?

Critical Care Explorations
OBJECTIVE:. To evaluate the impact of continuous renal replacement therapy (CRRT) on plasma amino acid (AA) concentrations in patients with acute metabolic decompensation of organic acidemias (OAs), and to explore whether AA supplementation during CRRT ...
Chloé Grosyeux, MD, Noémie Cammiciotto, PhD, Elise Jeannesson, PharmD, PhD, Eva Feigerlova, MD, PhD, Valentine Villada, MD, Camille Wicker, MD, Michael Levy, MD, PhD, Manuel Schiff, MD, PhD, Apolline Imbard, PharmD, PhD, David Coelho, PhD, François Feillet, PhD, Arnaud Wiedemann, MD, PhD   +11 more
doaj   +1 more source

Sir Archibald Garrod

Muller Journal of Medical Sciences and Research, 2013
When the history of inborn errors of metabolism is written, the name that will be mentioned foremost is that of Sir Archibald Garrod, who through his pioneering work on Alkaptonuria laid a solid foundation for this evolving specialty of medicine in the ...
K Varadaraj Shenoy, P Thara, M Sharmila
doaj   +1 more source

Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia

Frontiers in Pediatrics, 2021
Objectives: This study aims to assess the feasibility of using hemofiltration for ammonia clearance in low body weight infants with an inborn error of metabolism.Design: A study of two cases.Setting: Quaternary pediatric hospital (Saint Louis Children's ...
Christopher Markham, Caroline Williams, Cory Miller, Dorothy K. Grange, T. Keefe Davis, Kenneth E. Remy, Kenneth E. Remy   +6 more
doaj   +1 more source

Implantable Systems for Cardiovascular Treatment and Monitoring: Comparative Insights From Intracardiovascular and Extracardiovascular Technologies

Advanced Intelligent Systems, EarlyView.
A unifying device–cardiovascular interface framework is presented to classify implantable cardiovascular technologies as intracardiovascular blood‐contacting systems or extracardiovascular tissue‐only and blood‐handling architectures. Cross‐class comparison across shared semiquantitative criteria, including blood‐contact burden, biomimicry ...
Bergo Nicolò, Semproni Federica, Maselli Martina, Colli Andrea, Cianchetti Matteo, Ciuti Gastone, Stefanini Cesare, Menciassi Arianna   +7 more
wiley   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Screening Mentally Retarded Children for Inborn Errors of Metabolism

Journal of Nepal Health Research Council, 2017
Background: Most inborn errors of metabolism result in mental retardation and death due to accumulation of abnormal metabolites in the tissues. The presence of abnormal metabolites in the urine of mentally retarded individuals has been used worldwide ...
Naveen K Shreevastava, Arti S Pandey
doaj   +1 more source

Neural correlates of working memory and its association with metabolic parameters in early-treated adults with phenylketonuria

NeuroImage: Clinical, 2022
Background: Phenylketonuria (PKU) is an inborn error of metabolism affecting the conversion of phenylalanine (Phe) into tyrosine. Previous research has found cognitive and functional brain alterations in individuals with PKU even if treated early ...
Stephanie Abgottspon, Raphaela Muri, Shawn E. Christ, Michel Hochuli, Piotr Radojewski, Roman Trepp, Regula Everts   +6 more
doaj   +1 more source

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf–Hirschhorn Syndrome: Diagnostic Overshadowing

JIMD Reports
Mucopolysaccharidosis Type I (MPS I) is a rare lysosomal storage disorder caused by α‐l‐iduronidase deficiency, leading to glycosaminoglycan accumulation and multisystem involvement.
Karla Cifuentes‐Uribe, Sandrine Girard, Roseline Froissart, Magali Pettazzoni, Nathalie Guffon   +4 more
doaj   +1 more source