Found: 14
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Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2022, v. 28, n. 3, p. 207, doi. 10.5114/pedm.2022.116115
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- Article
Amino Acid Profile Alterations in Phenylketonuria: Implications for Clinical Practice.
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- Metabolites (2218-1989), 2024, v. 14, n. 7, p. 397, doi. 10.3390/metabo14070397
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- Article
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.
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- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 12, p. 6399, doi. 10.3390/ijerph18126399
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- Article
Navigating the Unique Challenges of Caregiving for Children with Rare Diseases: Are the Care Experiences of All Caregivers the Same? A Focus on Life-Limiting Rare Diseases.
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- Journal of Clinical Medicine, 2024, v. 13, n. 15, p. 4510, doi. 10.3390/jcm13154510
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- Article
COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases—Organizational Challenges from the Point of View of Healthcare Providers.
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- Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4862, doi. 10.3390/jcm10214862
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- Article
Anthropometric Parameters in Patients with Fatty Acid Oxidation Disorders: A Case–Control Study, Systematic Review and Meta-Analysis.
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- Healthcare (2227-9032), 2022, v. 10, n. 12, p. 2405, doi. 10.3390/healthcare10122405
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- Article
Therapy compliance in children with phenylketonuria younger than 5 years: A cohort study.
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- Advances in Clinical & Experimental Medicine, 2019, v. 28, n. 10, p. 1385, doi. 10.17219/acem/104536
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- Article
Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study.
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- 2024
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- Publication type:
- Case Study
Phenylketonuria Patients' and Their Caregivers' Perception of the Pandemic Lockdown: The Results of a National Online Survey.
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- Children, 2022, v. 9, n. 2, p. 131, doi. 10.3390/children9020131
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- Article
Deficiency of long-chain polyunsaturated fatty acids in phenylketonuria: a cross-sectional study.
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- Acta Biochimica Polonica, 2018, v. 65, n. 2, p. 303, doi. 10.18388/abp.2018_2565
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- Article
PHENYLKETONURIA IS NOT A RISK FACTOR FOR CHANGES OF INFLAMMATION STATUS AS ASSESSED BY INTERLEUKIN 6 AND INTERLEUKIN 8 CONCENTRATIONS.
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- Acta Scientiarum Polonorum. Technologia Alimentaria, 2016, v. 15, n. 2, p. 221, doi. 10.17306/J.AFS.2016.2.22
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- Article
Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland.
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- Biomedicines, 2023, v. 11, n. 6, p. 1668, doi. 10.3390/biomedicines11061668
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- Article
The Impact of the First 2020 COVID-19 Lockdown on the Metabolic Control of Patients with Phenylketonuria.
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- Nutrients, 2021, v. 13, n. 6, p. 2024, doi. 10.3390/nu13062024
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- Article
Vitamin K Status in Adherent and Non-Adherent Patients with Phenylketonuria: A Cross-Sectional Study.
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- Nutrients, 2020, v. 12, n. 6, p. 1772, doi. 10.3390/nu12061772
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- Article