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Urea cycle disorders in critically Ill adults

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 and disorders or impairment can...
Long, Micah T. et al.  - Current Opinion in Clinical...

Phenylketonuria from the perspectives of patients in Türkiye

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 in the protein-containing foods cannot...
Esgi Merve et al.  - Orphanet Journal of Rare...

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

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 COVID-19 a global pandemic on 11 March...
Cannizzo Sara et al.  - Orphanet Journal of Rare...

Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation...

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: rhabdomyolysis, hypoglycemia,...
Yang, Erru et al.  - Molecular genetics and metabolism...

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