المؤلفون: Ahmet Kasim Kilic, Aysegul Akkan Suzan^{Aff1, IDS1819712424010124_cor2}

المصدر: Neurochemical Journal. 18(1):201-206

المؤلفون: Murat Karaoglan, Gulper Nacarkahya, Emel Hatun Aytac, Mehmet Keskin

المصدر: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: Biotinidase deficiency, Genotype-biochemical phenotype discordance, Biotinidase activity, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/a2cef31b7d41471fb8b39004932c796b

المؤلفون: Karaoglan, Murat^{Aff1, IDs4304202400500x_cor1}, Nacarkahya, Gulper, Aytac, Emel Hatun, Keskin, Mehmet

المصدر: Egyptian Journal of Medical Human Genetics. 25(1)

المؤلفون: Baumgartner, Matthias R.^Aff5, Suormala, Terttu^Aff6

المساهمون: Saudubray, Jean-Marie, editor^Aff1, Baumgartner, Matthias R., editor^Aff2, Walter, John, editor^{Aff3, Aff4}

المصدر: Inborn Metabolic Diseases : Diagnosis and Treatment. :375-383

المؤلفون: Santer, René^Aff5, Klepper, Joerg^Aff6

المساهمون: Saudubray, Jean-Marie, editor^Aff1, Baumgartner, Matthias R., editor^Aff2, Walter, John, editor^{Aff3, Aff4}

المصدر: Inborn Metabolic Diseases : Diagnosis and Treatment. :175-183

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المؤلفون: Micó, Salvador Ibáñez^Aff2, Jiménez, Rosario Domingo^Aff2, Salcedo, Eduardo Martínez^Aff2, Martínez, Helena Alarcón^Aff2, Mira, Alberto Puche^Aff2, Fernández, Carlos Casas^Aff2

المساهمون: c/o ACB

المصدر: JIMD Reports - Case and Research Reports, 2012/1. 4:75-78

المؤلفون: Baumgartner, Matthias R.^Aff4, Suormala, Terttu^Aff5

المساهمون: Saudubray, Jean-Marie, editor^Aff1, van den Berghe, Georges, editor^Aff2, Walter, John H., editor^Aff3

المصدر: Inborn Metabolic Diseases : Diagnosis and Treatment. :375-384

المؤلفون: Santer, René^Aff4, Klepper, Jörg^Aff5

المساهمون: Saudubray, Jean-Marie, editor^Aff1, van den Berghe, Georges, editor^Aff2, Walter, John H., editor^Aff3

المصدر: Inborn Metabolic Diseases : Diagnosis and Treatment. :175-183

المؤلفون: Daniela Semeraro, Sara Verrocchio, Giulia Di Dalmazi, Claudia Rossi, Damiana Pieragostino, Ilaria Cicalini, Rossella Ferrante, Silvia Di Michele, Liborio Stuppia, Cristiano Rizzo, Francesca Romana Lepri, Antonio Novelli, Carlo Dionisi-Vici, Vincenzo De Laurenzi, Ines Bucci

المصدر: International Journal of Environmental Research and Public Health; Volume 19; Issue 13; Pages: 8141

مصطلحات موضوعية: Biotinidase Deficiency, Neonatal Screening, Biotinidase, newborn blood spot screening, biotinidase deficiency, expanded newborn screening, inborn errors of metabolism, biotinidase gene variants, biotinidase activity, Incidence, Health, Toxicology and Mutagenesis, Mutation, Infant, Newborn, Public Health, Environmental and Occupational Health, Humans, Infant

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::422875f5d537d6d888e84b5a893c350d