[HTML][HTML] Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland
Z Żuber, B Kieć-Wilk, Ł Kałużny, J Wierzba… - Biomedicines, 2023 - mdpi.com
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 …
lysosomal storage disease. The disease is caused by deficiency of the lysosomal enzyme …
[HTML][HTML] The impact of the First 2020 COVID-19 Lockdown on the metabolic control of patients with Phenylketonuria
D Walkowiak, B Mikołuć, R Mozrzymas, Ł Kałużny… - Nutrients, 2021 - mdpi.com
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 …
first 2020 COVID-19 lockdown in Poland. Blood (phenylalanine) Phe results of the tests of …
[HTML][HTML] The impact of the COVID-19 pandemic on the perception of health and treatment-related issues among patients with Phenylketonuria in Poland—The results …
D Walkowiak, B Mikołuć, R Mozrzymas… - International Journal of …, 2021 - mdpi.com
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 …
patients. This study aims to identify problems encountered by patients with phenylketonuria …
Therapy compliance in children with phenylketonuria younger than 5 years: A cohort study
D Walkowiak, A Bukowska-Posadzy… - … in Clinical and …, 2019 - advances.umw.edu.pl
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 …
or partial inability to convert phenylalanine (Phe) to tyrosine and leads to increased …
[HTML][HTML] Covid-19 pandemic and patients with rare inherited metabolic disorders and rare autoinflammatory diseases—organizational challenges from the point of …
E Tobór-Świętek, J Sykut-Cegielska… - Journal of clinical …, 2021 - mdpi.com
COVID-19 pandemic is an organisational challenge for both healthcare providers and
patients. People with rare inherited metabolic disorders (IMD) and rare autoinflammatory …
patients. People with rare inherited metabolic disorders (IMD) and rare autoinflammatory …
[HTML][HTML] Anthropometric Parameters in Patients with Fatty Acid Oxidation Disorders: A Case–Control Study, Systematic Review and Meta-Analysis
This study compared the anthropometric parameters of patients with fatty acid oxidation
disorders (FAOD) and healthy controls, showing an increased prevalence of abnormal body …
disorders (FAOD) and healthy controls, showing an increased prevalence of abnormal body …
[PDF][PDF] Phenylketonuria is not a risk factor for changes of inflammation status as assessed by interleukin 6 and interleukin 8 concentrations
R Mozrzymas, M Duś-Żuchowska… - Acta scientiarum …, 2016 - food.actapol.net
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 …
phenylketonuria (PKU) patients, a phenomenon confirmed in a few studies, may lead to …
[CITATION][C] Deficiency of long-chain polyunsaturated fatty acids in phenylketonuria: a cross-sectional study
S Drzymała-Czyż, Ł Kałużny… - Acta Biochimica …, 2018 - ojs.ptbioch.edu.pl
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 …
Page 1 Regular paper Deficiency of long-chain polyunsaturated fatty acids in phenylketonuria: a …
Retinal nerve fibre layer thickness associates with phenylketonuria control and cognition
JK Nowak, Ł Kałużny, W Suda… - Journal of Medical …, 2020 - jmg.bmj.com
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 …
on the acceptable range of Phe constantly evolve. In 1997, German guidelines allowed Phe …
[HTML][HTML] Vitamin K status in adherent and non-adherent patients with phenylketonuria: A cross-sectional study
R Mozrzymas, D Walkowiak, S Drzymała-Czyż… - Nutrients, 2020 - mdpi.com
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 …
phenylalanine dietary compliance in patients with phenylketonuria (PKU). The dietary and …