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Phenylketonuria patients' and their parents' knowledge and attitudes to the daily diet - multi-centre study

Nutrition & metabolism, 2017-08, Vol.14 (1), p.57-57, Article 57

2017

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“Apple does not fall far from the tree” – subclinical atherosclerosis in children with familial hypercholesterolemia

Lipids in health and disease, 2020-07, Vol.19 (1), p.1-169, Article 169

2020

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Carriership of the rs113883650/rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100640-100640, Article 100640

2020

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Helicobacter pylori Infection in Children with Phenylketonuria Does Not Depend on Metabolic Control and Is Not More Frequent Than in Healthy Subjects—A Cross-Sectional Study

Children (Basel), 2021-08, Vol.8 (8), p.713

2021

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Difficulties in maintaining diet in patients with phenylketonuria

Pediatria & Medycyna Rodzinna (Online), 2018-01, Vol.14 (1), p.54-60

2018

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Human milk – facts and myths

Pediatria & Medycyna Rodzinna (Online), 2017-03, Vol.13 (1), p.11-20

2017

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Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II

Molecular genetics and metabolism reports, 2016-03, Vol.6 (C), p.5-7

2016

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Clinical reality and challenges with familial hypercholesterolemia patients' management. 2024 results from the Regional Center for Rare Diseases (RCRD) Registry in Poland

International journal of cardiology, 2025-01, Vol.419, p.132667, Article 132667

2025

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Hen's egg as a source of valuable biologically active substances

Postȩpy higieny i medycyny doświadczalnej, 2016-07, Vol.70, p.751-759

2016

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Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy

Genes, 2024-09, Vol.15 (10), p.1289

2024

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Clinical Features of Familial Hypercholesterolemia in Children and Adults in EAS-FHSC Regional Center for Rare Diseases in Poland

Journal of clinical medicine, 2021-09, Vol.10 (19), p.4302

2021

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Analiza wielokierunkowa czynników towarzyszących nadwadze i otyłości u dzieci i młodzieży – badanie przekrojowe

Medycyna ogólna i nauki o zdrowiu, 2023-03

2023

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Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients

Genes, 2022-08, Vol.13 (8), p.1424

2022

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The Impact of the COVID-19 Pandemic on the Perception of Health and Treatment-Related Issues among Patients with Phenylketonuria in Poland—The Results of a National Online Survey

International journal of environmental research and public health, 2021-06, Vol.18 (12), p.6399

2021

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Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel

Genes, 2022-06, Vol.13 (6), p.999

2022

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Phenylketonuria patients' and their parents' acceptance of the disease: multi-centre study

Quality of life research, 2016-11, Vol.25 (11), p.2967-2975

2016

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The quality of life of people with rare inborn errors of metabolism and their caregivers

Pediatria polska, 2018, Vol.93 (2), p.148-152

2018

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Long-term clinical effects of enzyme replacement therapy in MPS II

Pediatria polska, 2017-07, Vol.92 (4), p.373-377

2017

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Impact of lipophilic antioxidants and level of antibodies against oxidized low-density lipoprotein in Polish children with phenylketonuria

Antioxidants & redox signaling, 2012-01, Vol.16 (2), p.179-182

2012

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Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness

Acta biochimica Polonica, 2013-01, Vol.60 (4), p.613

2013

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Czy chorzy na fenyloketonurię są zagrożeni osteoporozą? Stan tkanki kostnej u chorych na fenyloketonurię w Polsce

Pediatria polska, 2010-05, Vol.85 (3), p.207-215

2010

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Ocena realizacji zaleceń żywieniowych oraz profilu lipidowego w surowicy krwi dzieci chorych na fenyloketonurię

Pediatria polska, 2009-05, Vol.84 (3), p.217-223

2009

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Phenylketonuria patients' and their parents' knowledge and attitudes to the daily diet - multi-centre study

“Apple does not fall far from the tree” – subclinical atherosclerosis in children with familial hypercholesterolemia

Carriership of the rs113883650/rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria

Helicobacter pylori Infection in Children with Phenylketonuria Does Not Depend on Metabolic Control and Is Not More Frequent Than in Healthy Subjects—A Cross-Sectional Study

Difficulties in maintaining diet in patients with phenylketonuria

Human milk – facts and myths

Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II

Clinical reality and challenges with familial hypercholesterolemia patients' management. 2024 results from the Regional Center for Rare Diseases (RCRD) Registry in Poland

Hen's egg as a source of valuable biologically active substances

Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy

Clinical Features of Familial Hypercholesterolemia in Children and Adults in EAS-FHSC Regional Center for Rare Diseases in Poland

Analiza wielokierunkowa czynników towarzyszących nadwadze i otyłości u dzieci i młodzieży – badanie przekrojowe

Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients

The Impact of the COVID-19 Pandemic on the Perception of Health and Treatment-Related Issues among Patients with Phenylketonuria in Poland—The Results of a National Online Survey

Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel

Phenylketonuria patients' and their parents' acceptance of the disease: multi-centre study

The quality of life of people with rare inborn errors of metabolism and their caregivers

Long-term clinical effects of enzyme replacement therapy in MPS II

Impact of lipophilic antioxidants and level of antibodies against oxidized low-density lipoprotein in Polish children with phenylketonuria

Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness

Czy chorzy na fenyloketonurię są zagrożeni osteoporozą? Stan tkanki kostnej u chorych na fenyloketonurię w Polsce

Ocena realizacji zaleceń żywieniowych oraz profilu lipidowego w surowicy krwi dzieci chorych na fenyloketonurię

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