Metabolism and Nutrition Xpert Online alert

The latest medical news on metabolic disorders
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Here are the latest updates from "Metabolism and Nutrition Xpert Online".
Publications Tuesday March 19, 2024

# Latest uploads :

Urea cycle disorders in critically Ill adults

Current Opinion in Clinical Nutrition & Metabolic Care 2024; 27(2): 184-91

Hyperammonemia in patients with critical illness can be a harbinger of a life-threatening disease process and is itself life-threatening. The urea cycle is the primary physiologic pathway for ammonia excretion...

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Phenylketonuria from the perspectives of patients in Türkiye

Orphanet Journal of Rare Diseases 2024; 19(1): 78

Phenylketonuria (PKU) is an autosomal recessive metabolic disease. Despite the variations across the world, the prevalence of PKU is approximately 1/10.000 newborns [1]. In patients with PKU, phenylalanine...

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The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review

Orphanet Journal of Rare Diseases 2023; 19(1): 81

Coronavirus disease (COVID-19) is an infectious disease caused by the SARS-CoV-2 virus that was first identified at the beginning of 2020 in Wuhan, China. The World Health Organization (WHO) declared the...

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Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD odyssey program

Molecular genetics and metabolism 2024; AOP:10.1016/j.ymgme.2024.108350

Major clinical events (MCEs) related to long-chain fatty acid oxidation disorders (LC-FAOD) in triheptanoin clinical trials include inpatient or emergency room (ER) visits for three major clinical manifestations:...

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