A study on the quality of life and burden of informal caregivers of children with metachromatic leukodystrophy in Poland
Dariusz Walkowiak, Tomasz Grybek, Karolina Śledzińska, Anna Lemska et autres
0 citationsOrphanet Journal of Rare Diseases
Jolanta Wierzba
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680Publications signalées
2494Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Metabolism and Genetic DisordersGenomic variations and chromosomal abnormalitiesGenomics and Chromatin DynamicsMuscle Physiology and DisordersCorneal surgery and disorders
Publications récentes
Caregivers’ perceptions of health-related aspects in Fragile X syndrome in Poland - a survey study
Kornelia Polat, Cecylia Ambroży, Katarzyna Milska-Musa, Joanna Kulisiak-Kaźmierczak et autres
0 citationsInternational Journal of Developmental Disabilities
Multidimensional Motor Phenotype Characterization in Children with Joubert Syndrome: A Cross-Sectional Cohort Study
Łukasz Mański, Aleksandra Moluszys, Anna Góra, Eliza Wasilewska et autres
0 citationsJournal of Clinical Medicine
Functional Motor Assessment and Rehabilitation in Joubert Syndrome: A Narrative Review and Conceptual Framework for Pediatric Neurorehabilitation
Łukasz Mański, Aleksandra Moluszys, Jolanta Wierzba
1 citationChildren
Beyond SGCE: expanding the clinical and molecular spectrum of KCTD17- and KCNN2-related myoclonus-dystonia
Magdalena Krygier, Emilia J. Sitek, Magdalena Chylińska, Szymon Ziętkiewicz et autres
1 citationFrontiers in Neurology
Metabolic Complications and Ultrasound‐Detected Liver Abnormalities in Paediatric Patients With Duchenne Muscular Dystrophy
Karolina Śledzińska, Kornelia Polat, Agnieszka Kuchta, Józef Dulak et autres
0 citationsPediatric Obesity
Neurorehabilitation and Functional Improvement in Joubert Syndrome: A 12-Month Case Report
Łukasz Mański, Aleksandra Moluszys, Eliza Wasilewska, Agnieszka Rosa et autres
1 citationChildren
Multidimensional Functional Phenotyping in Children with Joubert Syndrome: A Pilot Case Series
Łukasz Mański, Aleksandra Moluszys, Anna Góra, Eliza Wasilewska et autres
2 citationsBrain Sciences
Estimation of Prenatal Alcohol Exposure: Comparison of Retrospective Survey and Measurement of Fatty Acid Ethyl Esters, Ethyl Sulfate, and Ethyl Glucuronide Concentrations in Neonatal Meconium
Marek Wiergowski, Iwona Jańczewska, Jolanta Wierzba, Monika Cichoń-Kotek et autres
2 citationsToxics
Association between maternal pre-pregnancy body mass index, health and socioeconomic factors and neonatal birthweight, preterm birth and onset of delivery, double-center case-control study
Iwona Jańczewska, Alicja Jańczewska-Twardowska, Natalia Mazur, Małgorzata Szczurek-Gierczak et autres
0 citationsArchives of Medical Science
Estimation of Prenatal Alcohol Exposure: Comparison of Retrospective Survey and Measurement of Fatty Acid Ethyl Esters, Ethyl Sulfate and Ethyl Glucuronide Concentrations in Neonatal Meconium
Marek Wiergowski, Iwona Jańczewska, Jolanta Wierzba, Monika Cichoń-Kotek et autres
0 citationsPreprints.org
Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN‐ITHACA Guideline
Mirthe J Klein Haneveld, Katarzyna Świeczkowska, Tomasz Grybek, Kinga Labunets et autres
3 citationsJournal of Intellectual Disability Research
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