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A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles.
Orphanet J Rare Dis
January 2025
Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Postbus, Groningen, 30001 - 9700 RB, the Netherlands.
Background: Glycogen storage disease (GSD) Ia is an ultra-rare inherited disorder of carbohydrate metabolism. Patients often present in the first months of life with fasting hypoketotic hypoglycemia and hepatomegaly. The diagnosis of GSD Ia relies on a combination of different biomarkers, mostly routine clinical chemical markers and subsequent genetic confirmation.
View Article and Find Full Text PDFThe Association of Race With Outcomes in Hospitalised Patients With Hepatorenal Syndrome: Nationwide Cohort Study.
Liver Int
January 2025
Division of Gastroenterology-Hepatology, Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Introduction: Racial/ethnic disparities have been previously reported in renal and hepatic disease care; however, acute kidney injury (AKI) in the setting of cirrhosis (hepatorenal syndrome [HRS]-AKI) despite its complexity requiring a multidisciplinary approach, remains understudied.
Methods: To identify unique associations of clinical and sociodemographic factors with mortality and length of stay (LOS) among patients hospitalised with HRS-AKI, hierarchical regression analysis was conducted, along with a mediation analysis to estimate how race-related differences in in-hospital mortality were influenced by payer type, area household income, and clinical severity.
Results: Black patients demonstrated a significantly higher odds of in-hospital mortality, compared to their white counterparts, adjusting for (1) sex and age, (2) sex, age, payer type, and area household income and (3) sex, age, and clinical severity [OR 1.
Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries.
J Inherit Metab Dis
January 2025
Department of Medical Psychology, Hannover Medical School, Hannover, Germany.
Hepatorenal tyrosinaemia (HT1) is an autosomal recessive disorder of tyrosine degradation resulting in hepatic and renal dysfunction, neurological sequelae may occur in some patients. The use of nitisinone (NTBC) has revolutionised treatment and outcome of this disorder. NTBC has to be combined with a low protein diet.
View Article and Find Full Text PDFBase-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia.
Nat Commun
November 2024
Section on Cellular Differentiation, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA.
Article Synopsis
- * The huR83C mouse model replicates the disease phenotype and has been used to test the effectiveness of BEAM-301, a treatment that utilizes lipid nanoparticles and adenine base editing to correct the harmful G6PC1-R83C variant.
- * BEAM-301 has shown the ability to correct about 60% of the variant in liver cells, restore blood sugar control, improve overall health, and increase survival rates in mice, indicating its potential as a therapeutic option for patients with this specific genetic mutation
Personalized management of hepatic glycogen storage disorders: The role of continuous glucose monitoring.
J Pediatr Gastroenterol Nutr
January 2025
Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Objective: Glycogen storage disorders (GSD), inherent disorders of carbohydrate metabolism, feature hypoglycemia as a hallmark. Normoglycemia and glucose monitoring are pivotal in disease management. Conventional glucometer-based monitoring may overlook hypoglycemic trends.
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