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1
المؤلفون: David T. Croke, E. R. Naughten, L. A. Tyfield, B Radomyska, Ciaran O'Neill, Philip Mayne, H R Waterham, S H Brendan Chia, Laura Gort, Paz Briones, H Russell, A Magee, W M Strobl, Orna Tighe, J S Shin, G McMahon, Giorgio Bertorelle, Martin A. Schwartz, Libor Kozák, Juergen K. V. Reichardt, Patricia Fitzpatrick, Jonathan M. Flanagan
المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases
المصدر: Heredity, 104(2), 148-154. Nature Publishing Group
مصطلحات موضوعية: Galactosemias, Male, Genetics, education.field_of_study, Linkage disequilibrium, UDPglucose-Hexose-1-Phosphate Uridylyltransferase, Haplotype, Population, Mutation, Missense, Single-nucleotide polymorphism, Locus (genetics), Gene mutation, Biology, Polymorphism, Single Nucleotide, White People, Europe, Gene Frequency, Homo sapiens, Humans, Female, education, Allele frequency, Genetics (clinical)
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2
المؤلفون: M. Nowacka, B. Radomyska, C. Żekanowski, B. Cabalska
المصدر: Journal of Medical Screening. 8:132-136
مصطلحات موضوعية: Adult, Galactosemias, Pathology, medicine.medical_specialty, Adolescent, Phenylalanine hydroxylase, medicine.disease_cause, law.invention, Exon, Neonatal Screening, Predictive Value of Tests, law, Phenylketonurias, Genotype, Humans, UTP-Hexose-1-Phosphate Uridylyltransferase, Medicine, Allele, Child, Genotyping, Gene, Polymerase chain reaction, Genetics, Mutation, biology, business.industry, Health Policy, Infant, Newborn, Public Health, Environmental and Occupational Health, Infant, Phenylalanine Hydroxylase, Child, Preschool, biology.protein, Poland, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b380087c89cfbaa6885c16bf7a0dcafd
https://doi.org/10.1136/jms.8.3.132 -
3
المؤلفون: J. Bal, B. Radomyska, C. Żdekanowski
المصدر: Journal of Inherited Metabolic Disease. 22:679-682
مصطلحات موضوعية: Adult, Galactosemias, Genetics, Pediatrics, medicine.medical_specialty, Adolescent, Infant, Biology, Classical galactosaemia, Child, Preschool, Mutation, medicine, Humans, UTP-Hexose-1-Phosphate Uridylyltransferase, Poland, Child, Genetics (clinical)
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4
المؤلفون: B. Radomyska, Teresa Laskowska-Klita, Andrzej Milanowski, Jadwiga Ambroszkiewicz, Mariusz Ołtarzewski, Magdalena Chełchowska, Joanna Gajewska
المصدر: Advances in Medical Sciences. 53
مصطلحات موضوعية: Galactosemias, Male, medicine.medical_specialty, Adolescent, Metabolite, Osteocalcin, Enzyme-Linked Immunosorbent Assay, Bone and Bones, Collagen Type I, Bone resorption, Bone remodeling, Young Adult, chemistry.chemical_compound, Calcification, Physiologic, Bone Density, Osteogenesis, Internal medicine, medicine, Vitamin D and neurology, Humans, Vitamin D, Child, Bone mineral, business.industry, Galactosemia, General Medicine, Alkaline Phosphatase, medicine.disease, Resorption, Endocrinology, chemistry, Case-Control Studies, Child, Preschool, Female, Peptides, business, Biomarkers, Serum markers
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5
المؤلفون: B. Radomyska, T. Laskowska-Klita, E. Szymczak
المصدر: Clinical pediatrics. 40(3)
مصطلحات موضوعية: Male, medicine.medical_specialty, Homocysteine, Apolipoprotein B, Adolescent, Hypercholesterolemia, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Risk Factors, 030225 pediatrics, Internal medicine, Blood plasma, medicine, Humans, Child, biology, Cholesterol, business.industry, Serum homocysteine, Lipoprotein(a), Pathophysiology, Endocrinology, chemistry, Cardiovascular Diseases, Case-Control Studies, Child, Preschool, Pediatrics, Perinatology and Child Health, biology.protein, lipids (amino acids, peptides, and proteins), Female, business, Lipoprotein
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6
المؤلفون: B, Radomyska
المصدر: Medycyna wieku rozwojowego. 5(1)
مصطلحات موضوعية: Galactosemias, Pregnancy Complications, Neonatal Screening, Pregnancy, Infant, Newborn, Humans, Female, Lactose, Genetic Testing, Poland, Infant, Newborn, Diseases
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f77abe1407b7d51da086100bd0fe5c2b
https://pubmed.ncbi.nlm.nih.gov/11276504 -
7
المؤلفون: B, Radomyska
المصدر: Medycyna wieku rozwojowego. 5(1)
مصطلحات موضوعية: Neonatal Screening, Infant, Newborn, Prevalence, Humans, Poland, Mass Spectrometry, Metabolism, Inborn Errors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6b58b21e75c1793d1d70ffe5a31af08d
https://pubmed.ncbi.nlm.nih.gov/11276508 -
8
المؤلفون: A. Lange, J. Amilkiewicz, D. Chmielewski, B. Didycz, J. Konstantynowicz, B. Mikoluc, A. Milanowski, M. Nowacka, B. Radomyska, B. Schneiberg, E. Starostecka, J. Ulewicz-Filipowicz, I. Wojcicka-Bartlomiejczyk, null Polish PKU Working Group
المصدر: Bone. 40:S59-S60
مصطلحات موضوعية: Bone mineral, medicine.medical_specialty, Histology, Endocrinology, Physiology, Chemistry, Endocrinology, Diabetes and Metabolism, Internal medicine, medicine
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9
المؤلفون: T, Mańkowski, B, Radomyska, E, Zbieg-Sendecka
المصدر: Materia medica Polona. Polish journal of medicine and pharmacy. 22(3)
مصطلحات موضوعية: Adult, Galactosemias, Erythrocytes, UDPglucose-Hexose-1-Phosphate Uridylyltransferase, Adolescent, Child, Preschool, Humans, UTP-Hexose-1-Phosphate Uridylyltransferase, Child
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::d001e54d02cfd8b5c99b6e3442d25aef
https://pubmed.ncbi.nlm.nih.gov/2132425 -
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المؤلفون: E, Zbieg-Sendecka, K, Zorska, Z, Grodzka, I, Miesowicz, H, Kossowicz, T, Mańkowski, B, Radomyska
المصدر: Pediatria polska. 59(11)
مصطلحات موضوعية: Adult, Galactosemias, Male, Time Factors, Adolescent, Infant, Newborn, Galactose, Infant, Child, Preschool, Humans, Female, Child, Psychomotor Performance, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8a878b651145446f6e87afa4aa93652b
https://pubmed.ncbi.nlm.nih.gov/6535961