المؤلفون: Tylki-Szymanska, Anna, Wamelink, Mirjam M. C., Stradomska, Teresa J., Salomons, Gajja S., Taybert, Joanna, Dąbrowska-Leonik, Nel, Rurarz, Małgorzata

المصدر: European Journal of Pediatrics. December 2014 173(12):1679-1682

المؤلفون: Teresa Joanna Stradomska, Anna Tylki-Szymańska, Joanna Taybert, Małgorzata Rurarz, Nel Dąbrowska-Leonik, Mirjam M.C. Wamelink, Gajja S. Salomons

المساهمون: Laboratory Medicine, NCA - Brain mechanisms in health and disease

المصدر: European Journal of Pediatrics, 173(12), 1679-1682. Springer Verlag
European Journal of Pediatrics
Tylki-Szymanska, A, Wamelink, M M C, Stradomska, T J, Salomons, G S, Taybert, J, Dabrowska-Leonik, N & Rurarz, M 2014, ' Clinical and molecular characteristics of two transaldolase-deficient patients ', European Journal of Pediatrics, vol. 173, no. 12, pp. 1679-1682 . https://doi.org/10.1007/s00431-014-2261-2

مصطلحات موضوعية: Male, medicine.medical_specialty, Chromatography, Gas, Hepatosplenomegaly, Transaldolase deficiency, Case Report, Urine, Gastroenterology, Polymerase Chain Reaction, Seven-carbon chain carbohydrates, Diagnosis, Differential, chemistry.chemical_compound, Tubulopathy, Internal medicine, medicine, Humans, Genetic Testing, Pediatrics, Perinatology, and Child Health, Pentose phosphate pathway, business.industry, Gene Expression Regulation, Developmental, Infant, Polyol concentration, DNA, medicine.disease, Transaldolase, Bleeding diathesis, Endocrinology, Sedoheptulose, chemistry, Pediatrics, Perinatology and Child Health, medicine.symptom, Differential diagnosis, business, Carbohydrate Metabolism, Inborn Errors, Chromatography, Liquid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a409e58729f1d495dfbeb3cdd416e6e0