Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is a rare, inherited
lysosomal storage disease. The disease is caused by deficiency of the lysosomal enzyme …

The present study assessed patients' metabolic control of phenylketonuria (PKU) during the
first 2020 COVID-19 lockdown in Poland. Blood (phenylalanine) Phe results of the tests of …

There is agreement that the pandemic has affected the healthcare system and behaviour of
patients. This study aims to identify problems encountered by patients with phenylketonuria …

Background. Phenylketonuria (PKU) is a metabolic disease. It is manifested by a complete
or partial inability to convert phenylalanine (Phe) to tyrosine and leads to increased …

COVID-19 pandemic is an organisational challenge for both healthcare providers and
patients. People with rare inherited metabolic disorders (IMD) and rare autoinflammatory …

This study compared the anthropometric parameters of patients with fatty acid oxidation
disorders (FAOD) and healthy controls, showing an increased prevalence of abnormal body …

Background. High oxidative stress and a reduced potential for free radical scavenging in
phenylketonuria (PKU) patients, a phenomenon confirmed in a few studies, may lead to …

Deficiency of long-chain polyunsaturated fatty acids in phenylketonuria: a cross-sectional study
Page 1 Regular paper Deficiency of long-chain polyunsaturated fatty acids in phenylketonuria: a …

Phenylketonuria (PKU) is efficaciously treated by low-phenylalanine (Phe) diet but the views
on the acceptable range of Phe constantly evolve. In 1997, German guidelines allowed Phe …

This is the first study to evaluate vitamin K status in relation to dietary intake and
phenylalanine dietary compliance in patients with phenylketonuria (PKU). The dietary and …