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المؤلفون: Tahir S Pillay, Tumelo M. Satekge, Engela Honey, Marli Dercksen, Boitumelo Pitso
المصدر: Clinical Chemistry. 67:564-566
مصطلحات موضوعية: Heart Defects, Congenital, Male, business.industry, Biochemistry (medical), Clinical Biochemistry, Infant, Iduronate-2-sulfatase, Hunter syndrome, medicine.disease, Glycosaminoglycan, Inborn error of metabolism, Mutation, Immunology, Lysosomal storage disease, medicine, Humans, Mucopolysaccharidosis type II, business, Novel mutation, Gene, Glycoproteins, Mucopolysaccharidosis II
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1485675080a64d86f6313bf9cf169ae5Test
https://doi.org/10.1093/clinchem/hvaa334Test -
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المصدر: Clinica Chimica Acta. 498:122-125
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Clinical Biochemistry, Mevalonic Acid, Chronic liver disease, Biochemistry, Gastroenterology, Diagnosis, Differential, 03 medical and health sciences, Liver disease, 0302 clinical medicine, alpha 1-Antitrypsin Deficiency, Internal medicine, medicine, Humans, Hyperbilirubinemia, Mevalonate kinase deficiency, medicine.diagnostic_test, business.industry, Liver Diseases, Biochemistry (medical), Infant, General Medicine, Jaundice, medicine.disease, 030104 developmental biology, Mevalonic aciduria, 030220 oncology & carcinogenesis, Liver biopsy, Cytomegalovirus Infections, Liver function, Mevalonate Kinase Deficiency, medicine.symptom, business, Liver function tests
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::470ee67ed3e638b6d4e25b65bdef3711Test
https://doi.org/10.1016/j.cca.2019.08.014Test -
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المؤلفون: Tumelo M. Satekge, Tahir S Pillay, Olivia Kiabilua, Amanda Krause
المصدر: Clinica chimica acta; international journal of clinical chemistry. 505
مصطلحات موضوعية: 0301 basic medicine, Galactosemias, Male, Pediatrics, medicine.medical_specialty, Copper Sulfate, Screening test, Adolescent, Clinical Biochemistry, Population, DNA Mutational Analysis, Galactose Metabolism, Dna testing, Biochemistry, 03 medical and health sciences, South Africa, Young Adult, 0302 clinical medicine, GalT activity, Medicine, Humans, Mass Screening, UTP-Hexose-1-Phosphate Uridylyltransferase, False Positive Reactions, education, Child, Developing Countries, False Negative Reactions, Paediatric patients, Retrospective Studies, education.field_of_study, business.industry, Biochemistry (medical), Infant, Reproducibility of Results, General Medicine, DNA, Test (assessment), 030104 developmental biology, Galactosuria, 030220 oncology & carcinogenesis, Child, Preschool, Female, Indicators and Reagents, Chromatography, Thin Layer, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dd1d7901158dabbefe2b1dbc5047825Test
https://pubmed.ncbi.nlm.nih.gov/32092319Test -
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المؤلفون: Tahir S Pillay, Tumelo M. Satekge, Olivia Kiabilua
المصدر: Clinica Chimica Acta. 493:S453-S454
مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry, General Medicine, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9fedf4cac64966d683fea70006243850Test
https://doi.org/10.1016/j.cca.2019.03.961Test