المؤلفون: Patryk Lipiński, Katarzyna Wójcicka-Kowalczyk, Anna Bogdańska, Ewa Ehmke, Magdalena Pajdowska, Katarzyna Skrzypek, Agnieszka Charzewska, Dorota Hoffman-Zacharska

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: developmental and epileptic encephalopathies, pyridoxine-dependent epilepsy, 6-oxopipecolate, next-generation sequencing, ALDH7A1 gene, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1464556/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/1e2c7a65f519419d9227e5651b457b27

المؤلفون: Monika Pohorecka, Marcin Biernacki, Anna Jakubowska-Winecka, Kinga Leszczynska-Iwanicka, Dariusz Rokicki, Paulina Pokora, Barbara Perkowska, Magdalena Pajdowska, Marta Biernacka

المصدر: Pediatric Endocrinology, Diabetes and Metabolism, Vol 30, Iss 1, Pp 8-13 (2024)

مصطلحات موضوعية: tyrosinaemia type 1, emotional and behavioural functioning, phenylalanine., Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.termedia.pl/Emotional-and-behavioural-functioning-in-children-with-tyrosinaemia-type-1,138,53926,1,1.html; https://doaj.org/toc/2081-237X; https://doaj.org/toc/2083-8441

URL الوصول: https://doaj.org/article/fcc25c85b5194267871e5e093f4d13cd

المؤلفون: Dorota Wesół-Kucharska, Milena Greczan, Magdalena Kaczor, Magdalena Pajdowska, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Paulina Halat-Wolska, Paweł Kowalski, Elżbieta Jurkiewicz, Dariusz Rokicki

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100801- (2021)

مصطلحات موضوعية: SLC19A3, BTBGD, Biotin, Thiamine, Second thiamine-transporter, hThTr2, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000951; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/2419198a44cd46599c5f697d8af3eb14

المؤلفون: Dorota Wesół-Kucharska, Magdalena Kaczor, Magdalena Pajdowska, Ewa Ehmke vel Emczyńska-Seliga, Anna Bogdańska, Dariusz Kozłowski, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Dariusz Rokicki

المصدر: Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426919302228; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/8668316826d4472e9c29628b08a46e59

المؤلفون: Maciej Pronicki, Dorota Piekutowska-Abramczuk, Elżbieta Jurkiewicz, Dariusz Rokicki, Elżbieta Ciara, Joanna Trubicka, Katarzyna Iwanicka-Pronicka, Magdalena Pajdowska, Marek Migdał, Wieslawa A. Grajkowska

المصدر: Folia Neuropathologica, Vol 55, Iss 2, Pp 146-153 (2017)

مصطلحات موضوعية: basal ganglia disease, SLC19A3 mutations, MRI, autopsy, neuropathology, thiamine transporter, Medicine

وصف الملف: electronic resource

Relation: https://www.termedia.pl/Neuropathological-characteristics-of-the-brain-in-two-patients-with-SLC19A3-mutations-related-to-the-biotin-thiamine-responsive-basal-ganglia-disease,20,30153,1,1.html; https://doaj.org/toc/1641-4640; https://doaj.org/toc/1509-572X

URL الوصول: https://doaj.org/article/14f4eb92eb884b299c964e24ac08d058

المؤلفون: Edyta Szymańska, Aleksandra Jezela-Stanek, Anna Bogdańska, Dariusz Rokicki, Ewa Ehmke vel Emczyńska-Seliga, Magdalena Pajdowska, Elżbieta Ciara, Anna Tylki-Szymańska

المصدر: Diagnostics, Vol 10, Iss 10, p 738 (2020)

مصطلحات موضوعية: isovaleric acidemia, newborn screening, dietary management, organic acidurias, IVD gene, mild phenotype, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4418/10/10/738; https://doaj.org/toc/2075-4418

URL الوصول: https://doaj.org/article/230099bacb1d40818d0e7e3c43364afb

المؤلفون: Edyta Szymańska, Małgorzata Średzińska, Agnieszka Ługowska, Magdalena Pajdowska, Dariusz Rokicki, Anna Tylki-Szymańska

المصدر: Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 33-35 (2015)

مصطلحات موضوعية: Biotinidase deficiency, Biotin, Newborn screening, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221442691530032X; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/58b645a79f0f44c983302283a8133b25

المؤلفون: Katarzyna Iwanicka-Pronicka, Agnieszka Pollak, Agata Skórka, Urszula Lechowicz, Magdalena Pajdowska, Mariusz Furmanek, Maciej Rzeski, Lech Korniszewski, Henryk Skarżyński, Rafał Płoski

المصدر: PLoS ONE, Vol 7, Iss 10, p e44054 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3485002?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/074c23d2e52c4282964628ed8c93b19a

المؤلفون: Magdalena Kaczor, Dorota Wesół-Kucharska, Paweł Kowalski, Dorota Piekutowska-Abramczuk, Paulina Halat-Wolska, Milena Greczan, Dariusz Rokicki, Elżbieta Jurkiewicz, Magdalena Pajdowska, Elżbieta Ciara

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100801-(2021)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: medicine.medical_specialty, Medicine (General), Ataxia, QH301-705.5, Encephalopathy, Biotin, Case Report, Gastroenterology, Endocrinology, Atrophy, R5-920, BTBGD, Internal medicine, Basal ganglia, Genetics, medicine, Thiamine, Biology (General), Molecular Biology, Basal ganglia disease, Dystonia, biology, business.industry, Second thiamine-transporter, medicine.disease, SLC19A3, biology.protein, medicine.symptom, business, hThTr2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::900199864a07c6dca5da83a3d688a470
http://www.sciencedirect.com/science/article/pii/S2214426921000951

المؤلفون: Katarzyna Iwanicka-Pronicka, Maciej Pronicki, Dorota Piekutowska-Abramczuk, Paulina Halat, Magdalena Pajdowska, Elżbieta Ciara

المصدر: International Journal of Pediatric Otorhinolaryngology. 121:143-149

مصطلحات موضوعية: Male, Heterozygote, Pediatrics, medicine.medical_specialty, Mitochondrial Diseases, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Mitochondrial disease, Cell Cycle Proteins, Deafness, DNA, Mitochondrial, Hearing screening, Cochlear function, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, 030225 pediatrics, Ribonucleotide Reductases, otorhinolaryngologic diseases, medicine, Humans, Child, 030223 otorhinolaryngology, MPV17, Hearing deficit, business.industry, Hearing Tests, Infant, Newborn, Infant, SERAC1 gene, General Medicine, Research process, medicine.disease, Hospitals, Otorhinolaryngology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, Poland, medicine.symptom, business, Carboxylic Ester Hydrolases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07af04aef01b9b1c166b0f1665d26c91
https://doi.org/10.1016/j.ijporl.2019.03.015

المؤلفون: Magdalena Pajdowska, Patryk Lipiński, Anna Tylki-Szymańska, Dariusz Kozłowski, Anna Bogdańska

المصدر: Acta Biochimica Polonica.

مصطلحات موضوعية: Gene isoform, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, General Biochemistry, Genetics and Molecular Biology, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Humans, Mass Screening, Protein Isoforms, Medicine, Dried Blood Spot Testing, Postmortem Diagnosis, chemistry.chemical_classification, Newborn screening, business.industry, Isoelectric focusing, Transferrin, Reproducibility of Results, Dried blood spot, chemistry, Biochemistry, Case-Control Studies, Isoelectric Focusing, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b9ef4b517f228868bd375d26b85b698
https://doi.org/10.18388/abp.2020_5576

المؤلفون: Katarzyna Olszewska, Magdalena Pajdowska, Malgorzata Janusz, Maciej Jaworski, Dariusz Kozłowski, Janusz Ksiazyk

المصدر: Acta Paediatrica (Oslo, Norway : 1992)

مصطلحات موضوعية: Male, Short Bowel Syndrome, medicine.medical_specialty, Adolescent, Nutritional Status, Gastroenterology, vitamin D deficiency, Cohort Studies, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Liver Function Tests, Cholestasis, Bone Density, 030225 pediatrics, Internal medicine, medicine, Citrulline, Humans, Medical nutrition therapy, Vitamin D, Child, Children, Growth Disorders, Growth deficiency, business.industry, Infant, Regular Article, Nutritional status, General Medicine, Parenteral nutrition, Short bowel syndrome, medicine.disease, chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, 030211 gastroenterology & hepatology, Parenteral Nutrition, Home, business, Regular Articles

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccc87006203e54cdc35219ec70720ff3
https://doi.org/10.1111/apa.14260

المؤلفون: Dorota Piekutowska-Abramczuk, Daniela Verrigni, Meow-Keong Thong, Roberta Taurisano, Cristiano Rizzo, Magdalena Pajdowska, Premala Muthukumarasamy, Chin Seng Gan, Ewa Jabłońska, Ewa Pronicka, Saskia B. Wortmann, Mariusz Ołtarzewski, Joanna Trubicka, Carlo Dionisi-Vici, Maciej Pronicki, Bader Alhaddad, Reka Kovacs-Nagy, Rosalba Carrozzo, Rijad Haidar, Elżbieta Ciara, Małgorzata Krajewska-Walasek, Dariusz Rokicki, Michela Semeraro, Tobias B. Haack, Roman Sikora, Pavai Sthaneswar

المصدر: Clinica Chimica Acta. 471:95-100

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Urea cycle disorder, Carbamoyl-Phosphate Synthase I Deficiency Disease, Urinary system, Clinical Biochemistry, Biology, Biochemistry, Gastroenterology, Glutarates, 03 medical and health sciences, Internal medicine, medicine, Humans, Biochemistry (medical), Infant, Newborn, Hyperammonemia, General Medicine, 3-Methylglutaconic Aciduria, medicine.disease, Pedigree, 030104 developmental biology, Endocrinology, Inborn error of metabolism, Urea cycle, Carbamoyl phosphate synthetase I deficiency, Mutation, Female, Differential diagnosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f037624b6b30eac8d8f421589b8773b6
https://doi.org/10.1016/j.cca.2017.05.023

المؤلفون: Janusz Książyk, Ewa Pronicka, Agnieszka Karkucinska-Wieckowska, Tamara Szymanska-Debinska, Dariusz Rokicki, Dorota Piekutowska-Abramczuk, Wolfgang Sperl, Maria Gizewska, Joanna Trubicka, Rafał Płoski, Johannes A. Mayr, Małgorzata Krajewska-Walasek, Elżbieta Ciara, Magdalena Pajdowska, M. Dudzińska, Maciej Pronicki, Paulina Halat

المصدر: Molecular Genetics and Metabolism Reports, Vol 7, Iss C, Pp 70-76 (2016)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: 0301 basic medicine, Proband, Pyruvate dehydrogenase complex deficiency, Novel pathogenic variants, Mitochondrial disease, Biology, DNA sequencing, PDHA1, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Endocrinology, Western blot, Genetics, medicine, Molecular Biology, Gene, lcsh:QH301-705.5, Exome sequencing, Sanger sequencing, lcsh:R5-920, medicine.diagnostic_test, Pyruvate dehydrogenase complex, medicine.disease, PDHc, 030104 developmental biology, lcsh:Biology (General), Whole-exome sequencing, symbols, DLD, lcsh:Medicine (General), 030217 neurology & neurosurgery, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::047268bb947fb7cb65fec677d0bc5ab7

المؤلفون: Katarzyna Iwanicka-Pronicka, Dariusz Rokicki, Elżbieta Jurkiewicz, Magdalena Pajdowska, Dorota Piekutowska-Abramczuk, Marek Migdał, Maciej Pronicki, Elżbieta Ciara, Wiesława Grajkowska, Joanna Trubicka

المصدر: Folia Neuropathologica, Vol 55, Iss 2, Pp 146-153 (2017)

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Central nervous system, lcsh:Medicine, Autopsy, SLC19A3 mutations, Neuropathology, Pathology and Forensic Medicine, autopsy, Basal Ganglia Diseases, medicine, Thiamine transporter, Humans, basal ganglia disease, Basal ganglia disease, neuropathology, medicine.diagnostic_test, biology, business.industry, lcsh:R, Infant, Newborn, Brain, Membrane Transport Proteins, Magnetic resonance imaging, medicine.disease, medicine.anatomical_structure, thiamine transporter, SLC19A3, Mutation, biology.protein, Thiamine, Neurology (clinical), business, MRI

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67b8e2c4eeeb2920fa5e723d08ecafea
https://pubmed.ncbi.nlm.nih.gov/28677371

المؤلفون: Wolf B, Janusz Ksiazyk, Wisniewska-Ligier D, Małgorzata Krajewska-Walasek, Dariusz Rokicki, Dariusz Kozłowski, Dorota Piekutowska-Abramczuk, Katarzyna Iwanicka-Pronicka, Ewa Pronicka, Magdalena Pajdowska

المصدر: Journal of Genetic Disorders & Genetic Reports.

مصطلحات موضوعية: Hyperventilation syndrome, medicine.medical_specialty, Newborn screening, business.industry, Biotinidase deficiency, medicine.disease, chemistry.chemical_compound, Endocrinology, Hypocapnia, Biotin, chemistry, Respiratory alkalosis, Internal medicine, Hyperventilation, medicine, Biotinidase, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::25fccc3a19850973894a5ede30e0a893
https://doi.org/10.4172/2327-5790.1000149

المؤلفون: Ewa Pronicka, Sylwia Chełstowska, Dorota Piekutowska-Abramczuk, Agnieszka Karkucinska-Wieckowska, Katarzyna Kotulska, Janusz Książyk, Elżbieta Jurkiewicz, Magdalena Pajdowska, Piotr Buda, Marek Migdał

المصدر: Folia Neuropathologica. 4:347-354

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Exacerbation, medicine.medical_treatment, Disease, DNA, Mitochondrial, Syncope, Pathology and Forensic Medicine, Epilepsy, Fatal Outcome, medicine, Paralysis, Humans, Rehabilitation, Muscle biopsy, medicine.diagnostic_test, business.industry, medicine.disease, Surgery, Mutation, Hyperlactatemia, Neurology (clinical), Leigh Disease, medicine.symptom, business, Ketogenic diet

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccc456e5a0db7bdc1b676c8c11351453
https://doi.org/10.5114/fn.2013.39726

المؤلفون: Magdalena Lebiedzinska, Jolanta Sykut-Cegielska, Weronika Jaron, Katarzyna Kokoszynska, Anna Dobrzańska, Ewa Pronicka, Elżbieta Czarnowska, Agnieszka Karkucinska-Wieckowska, Bożena Werner, Elżbieta Ciara, Maciej Pronicki, Magdalena Pajdowska, Mariusz R. Wieckowski, Joanna Trubicka, Lidia Ziółkowska

المصدر: Journal of Inherited Metabolic Disease

مصطلحات موضوعية: Male, medicine.medical_specialty, Cardiomyopathy, Gene mutation, Biology, chemistry.chemical_compound, Internal medicine, Genetics, medicine, Cardiolipin, Humans, Genetics(clinical), Inner mitochondrial membrane, Child, Muscle, Skeletal, Genetics (clinical), Cells, Cultured, Membrane Potential, Mitochondrial, Siblings, Barth syndrome, Dilated cardiomyopathy, medicine.disease, Endocrinology, chemistry, Child, Preschool, Barth Syndrome, Left ventricular noncompaction, Original Article, Severe lactic acidosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d93083f2a8f92cc2e8c2cb6e5c98bb57
http://europepmc.org/articles/PMC3825551

المؤلفون: Małgorzata Rydzanicz, Paulina Halat, Dariusz Rokicki, Maciej Pronicki, Agnieszka Karkucinska-Wieckowska, Ewa Pronicka, Małgorzata Krajewska-Walasek, Joanna Trubicka, Elżbieta Ciara, Joanna Kosińska, Agnieszka Pollak, Piotr Stawiński, Dorota Piekutowska-Abramczuk, Elżbieta Jurkiewicz, Magdalena Pajdowska, Rafał Płoski

المصدر: Journal of Translational Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, Novel mutation, Mitochondrial Diseases, Biopsy, Mitochondrial disease, NDUFV1, Biology, DNA, Mitochondrial, Pediatrics, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, symbols.namesake, Basal ganglia involvement, medicine, Humans, Exome, Child, Mitochondrial disease criteria scale, Exome sequencing, Medicine(all), Genetics, Sanger sequencing, Mitochondrial disorders, Biochemistry, Genetics and Molecular Biology(all), Research, Muscles, Infant, Newborn, Neonates, Infant, Sequence Analysis, DNA, General Medicine, 3-Methylglutaconic Aciduria, medicine.disease, Leigh syndrome, Pedigree, 030104 developmental biology, Whole-exome sequencing, Child, Preschool, Mutation, symbols, Female, 3-methylglutaconic aciduria, CLPB, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a5d88e5721591b0d068f610c90213b2
https://doi.org/10.1186/s12967-016-0930-9

المؤلفون: Grzegorz Węgrzyn, Tamara Szymanska-Debinska, Ewa Pronicka, Dorota Piekutowska-Abramczuk, Joanna Taybert, Piotr Socha, Maciej Pronicki, Jolanta Sykut-Cegielska, Agnieszka Karkucinska-Wieckowska, Paweł Kowalski, Anna Weglewska-Jurkiewicz, Joanna Jakóbkiewicz-Banecka, Magdalena Pajdowska

المصدر: Journal of Applied Genetics

مصطلحات موضوعية: Male, medicine.medical_specialty, Cirrhosis, Iron Overload, Deoxyguanosine kinase, Gene mutation, Biology, Hypoglycemia, DGUOK, Compound heterozygosity, DNA, Mitochondrial, Internal medicine, Natural history of the disease, Genetics, medicine, Neonatal hemochromatosis, Glucose homeostasis, Homeostasis, Humans, mtDNA depletion, Homozygote, Infant, Newborn, Infant, General Medicine, medicine.disease, DGUOK gene mutation, Human Genetics · Short Communication, Neonatal liver failure, Phosphotransferases (Alcohol Group Acceptor), Endocrinology, Glucose, Mutation, Female, Autopsy, Liver Failure

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40fb61d12effdcf50f12863208e8a320
http://europepmc.org/articles/PMC3026684