المؤلفون: Miroslaw Bik-Multanowski, Bozena Didycz, Kinga Bik-Multanowska

المصدر: PLoS ONE, Vol 17, Iss 2 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8853486/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/93fe977dc63e4407b7a1965ba593ac97

المؤلفون: Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: Phenylketonuria, Phenylalanine, Late-diagnosed, Untreated, Brain vulnerability, Intellectual disability, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0890-7; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/fa8d0419b00e4e5aaeec6593e5894762

المؤلفون: Miroslaw Bik-Multanowski, Anna Madetko-Talowska, Iwona Betka, Elzbieta Swieczka, Bozena Didycz, Karolina Orchel-Szastak, Kinga Bik-Multanowska, Ewa Starostecka, Joanna Jaglowska, Renata Mozrzymas, Joanna Zolkowska, Katarzyna Chyz, Dorota Korycinska-Chaaban

المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100640- (2020)

مصطلحات موضوعية: Personalized medicine, Pharmacogenomics, Obesity, Metabolism, WES, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920300860; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/25381154d73342a3ad185baa29970802

المؤلفون: Ewa Witalis, Bozena Mikoluc, Radoslaw Motkowski, Jolanta Sawicka-Powierza, Agnieszka Chrobot, Bozena Didycz, Agata Lange, Renata Mozrzymas, Andrzej Milanowski, Maria Nowacka, Mariola Piotrowska-Depta, Hanna Romanowska, Ewa Starostecka, Jolanta Wierzba, Magdalena Skorniewska, Barbara Iwona Wojcicka-Bartlomiejczyk, Maria Gizewska, Halina Car, Polish Society of Phenylketonuria

المصدر: Nutrition & Metabolism, Vol 14, Iss 1, Pp 1-9 (2017)

مصطلحات موضوعية: Phenylketonuria, Diet compliance, Control diet, Education, Phenylalanine and foods, Nutrition. Foods and food supply, TX341-641, Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12986-017-0207-1; https://doaj.org/toc/1743-7075

URL الوصول: https://doaj.org/article/48182e73f7b04605bbd559b13c49cfc8

المؤلفون: Bozena Didycz, Miroslaw Bik-Multanowski

المصدر: Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 80-82 (2018)

مصطلحات موضوعية: Adolescents, Neuropsychiatric symptoms, PKU, Quality of life, Treatment adherence, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426917301556; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/c83f1d5ca4fb4790a64b6a4e65bce452

المؤلفون: Danique van Vliet, Annemiek M.J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Kari Casas, Bozena Didycz, Maja Djordjevic, Jozef L. Hertecant, Vincenzo Leuzzi, Per Mathisen, Francesca Nardecchia, Kimberly K. Powell, Frank Rutsch, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen

المصدر: Nutrients, Vol 11, Iss 11, p 2572 (2019)

مصطلحات موضوعية: phenylketonuria, late-treated, untreated, outcome, brain vulnerability, inter-individual differences, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6643/11/11/2572; https://doaj.org/toc/2072-6643

URL الوصول: https://doaj.org/article/8336d24fdd254e619523ebeab572d96b

المؤلفون: Jarosław Walkowiak, Michal Patalan, Łukasz Kałużny, Bozena Didycz, Bożena Mikołuć, Renata Mozrzymas, Dariusz Walkowiak, Ewa Starostecka, Dorota Korycinska-Chaaban, Joanna Zarębska, Agnieszka Chrobot, Joanna Jaglowska

المصدر: International Journal of Environmental Research and Public Health
Volume 18
Issue 12
International Journal of Environmental Research and Public Health, Vol 18, Iss 6399, p 6399 (2021)

مصطلحات موضوعية: medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Phenylketonurias, remote medicine, Health, Toxicology and Mutagenesis, media_common.quotation_subject, phenylketonuria, COVID-19 pandemic, Computer-assisted web interviewing, compliance, Article, Odds, 03 medical and health sciences, Therapy compliance, 0302 clinical medicine, Perception, Pandemic, medicine, Humans, 030212 general & internal medicine, Pandemics, media_common, SARS-CoV-2, business.industry, Public Health, Environmental and Occupational Health, COVID-19, Test (assessment), Family medicine, PKU, Communicable Disease Control, Medicine, Poland, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40229223024495371745d815fc289a17

المؤلفون: Łukasz Kałużny, Renata Mozrzymas, Bozena Didycz, Bożena Mikołuć, Joanna Jaglowska, Jarosław Walkowiak, Dariusz Walkowiak, Danuta Kurylak

المصدر: Nutrients, Vol 13, Iss 2024, p 2024 (2021)
Nutrients
Volume 13
Issue 6

مصطلحات موضوعية: Male, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Adolescent, Phenylketonurias, Direct assessment, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Phenylalanine, Health Behavior, phenylketonuria, COVID-19 pandemic, 030209 endocrinology & metabolism, compliance, Article, 03 medical and health sciences, 0302 clinical medicine, Feeding behavior, Internal medicine, Medicine, Humans, TX341-641, 030212 general & internal medicine, Child, Pandemics, Nutrition and Dietetics, Hematologic tests, Hematologic Tests, business.industry, SARS-CoV-2, Nutrition. Foods and food supply, COVID-19, Infant, Feeding Behavior, Metabolic control analysis, Child, Preschool, PKU, Communicable Disease Control, Patient Compliance, Female, Poland, Health behavior, business, Food Science

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac472d53856bba64e784bbb52469b87a
https://www.mdpi.com/2072-6643/13/6/2024

المؤلفون: Iwona Betka, Joanna Jaglowska, Karolina Orchel-Szastak, Ewa Starostecka, Katarzyna Chyz, Dorota Korycinska-Chaaban, Anna Madetko-Talowska, Joanna Zolkowska, Bozena Didycz, Miroslaw Bik-Multanowski, Elzbieta Swieczka, Renata Mozrzymas, Kinga Bik-Multanowska

المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100640-(2020)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Phenylalanine transport, Context (language use), Phenylalanine, Overweight, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Genetics, medicine, Obesity, Molecular Biology, lcsh:QH301-705.5, Exome sequencing, 0303 health sciences, lcsh:R5-920, business.industry, 030305 genetics & heredity, Haplotype, nutritional and metabolic diseases, medicine.disease, Personalized medicine, Metabolism, lcsh:Biology (General), WES, medicine.symptom, business, Pharmacogenomics, lcsh:Medicine (General), 030217 neurology & neurosurgery, Pharmacogenetics, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e3d026769ce305b90eecc0485dc9a40
http://www.sciencedirect.com/science/article/pii/S2214426920300860

المؤلفون: Maja Djordjevic, Francjan J. van Spronsen, K. Ahring, Annemiek M. J. van Wegberg, Per Mathisen, Kari Casas, Francesca Nardecchia, Vincenzo Leuzzi, F. K. Trefz, Callum Wilson, William B. Hanley, Frank Rutsch, Kimberly K. Powell, Miroslaw Bik-Multanowski, Bozena Didycz, Clara D.M. van Karnebeek, Jozef Hertecant, Natalia Usurelu, Danique van Vliet, Maja Stojiljkovic

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), ANS - Cellular & Molecular Mechanisms, AGEM - Inborn errors of metabolism, Paediatric Metabolic Diseases

المصدر: Nutrients
Nutrients, 11
Nutrients, 11(11):2572. MDPI AG
Nutrients, 11(11):2572. Multidisciplinary Digital Publishing Institute (MDPI)
Nutrients, 11, 11
Volume 11
Issue 11
Nutrients, Vol 11, Iss 11, p 2572 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Delayed Diagnosis, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Individuality, Phenylalanine, Inter-individual differences, 0302 clinical medicine, Borderline intellectual functioning, Phenylketonurias, Intellectual disability, Medicine, Phenylketonuria, Child, Outcome, Nutrition and Dietetics, Brain, Middle Aged, Pathophysiology, 3. Good health, Female, lcsh:Nutrition. Foods and food supply, Psychosocial, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Brain vulnerability, Late-treated, Untreated, Adolescent, lcsh:TX341-641, Target range, Article, 03 medical and health sciences, Young Adult, Intellectual Disability, Humans, BARRIER PHENYLALANINE TRANSPORT, business.industry, nutritional and metabolic diseases, medicine.disease, 030104 developmental biology, High plasma, business, Neurocognitive, 030217 neurology & neurosurgery, Food Science

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b57cc83d4e621e4a121acbacf67f50c2
http://hdl.handle.net/11573/1349390