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

العلاقة: https://doaj.org/toc/2090-2441Test

الوصول الحر: https://doaj.org/article/a2cef31b7d41471fb8b39004932c796bTest

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

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

مصطلحات موضوعية: biotinidase activity, biotinidase deficiency, biotinidase gene variant, expanded newborn screening, inborn errors of metabolism, newborn blood spot screening, Biotinidase, Human, Incidence, Infant, Newborn, Mutation, Neonatal Screening

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35805799; info:eu-repo/semantics/altIdentifier/wos/WOS:000825617000001; volume:19; issue:13; firstpage:8141; numberofpages:12; journal:INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH; http://hdl.handle.net/11564/790892Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85133139760; https://www.mdpi.com/1660-4601/19/13/8141Test

الإتاحة: https://doi.org/10.3390/ijerph19138141Test
http://hdl.handle.net/11564/790892Test
https://www.mdpi.com/1660-4601/19/13/8141Test

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: newborn blood spot screening, biotinidase deficiency, expanded newborn screening, inborn errors of metabolism, biotinidase gene variants, biotinidase activity

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Women's Health; https://dx.doi.org/10.3390/ijerph19138141Test

الإتاحة: https://doi.org/10.3390/ijerph19138141Test

المؤلفون: Fatma Meric Yilmaz, Ozlem Oz, Nurgül Ataş, Emiş Deniz Akbulut, Meryem Karaca, Müjgan Ercan

المصدر: Journal of Pediatric Endocrinology and Metabolism. 34:89-94

مصطلحات موضوعية: Male, 0301 basic medicine, Turkey, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, 030209 endocrinology & metabolism, 030105 genetics & heredity, medicine.disease_cause, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Endocrinology, Genotype, medicine, Humans, Genetic Testing, Biotinidase activity, Allele, Allele frequency, Retrospective Studies, Biotinidase Deficiency, Newborn screening, Mutation, Biotinidase, business.industry, Biotinidase deficiency, Metabolic disorder, Infant, Newborn, Prognosis, medicine.disease, Pediatrics, Perinatology and Child Health, Immunology, Female, business, Biomarkers, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8c7046be583a33cea82bc8adffd42f5Test
https://doi.org/10.1515/jpem-2020-0382Test

المؤلفون: Taciane Borsatto, Fernanda Sperb-Ludwig, Henk J. Blom, Ida Vanessa Doederlein Schwartz

المساهمون: Clinical Genetics

المصدر: Molecular Genetics and Metabolism, 127(4), 361-367. Academic Press

مصطلحات موضوعية: 0301 basic medicine, Endocrinology, Diabetes and Metabolism, Gene Expression, 030105 genetics & heredity, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, In vivo, Genetics, Extracellular, medicine, Humans, Biotinidase activity, Molecular Biology, Alleles, Biotinidase Deficiency, Chemistry, Biotinidase, Biotinidase deficiency, HEK 293 cells, Wild type, Genetic Variation, medicine.disease, Molecular biology, In vitro, HEK293 Cells, Mutation, Colorimetry, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::616fe322c30a5fea68656d871d2c324dTest
https://doi.org/10.1016/j.ymgme.2019.07.006Test

المؤلفون: Yajuan Zhang, Mingjun Zhong, Yi Sun, Yi Zhao, Wenyu Xiong, Cheng Jing, Huijun Yuan, Lu Yu, Jia Geng, Zhongwei Bao, Qiuling Zhao

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Adolescent, biotinidase deficiency, Population, QH426-470, 030105 genetics & heredity, Compound heterozygosity, genetic diagnosis, 03 medical and health sciences, chemistry.chemical_compound, Biotin, Internal medicine, Genetics, Humans, Medicine, Biotinidase activity, education, Molecular Biology, Genetics (clinical), education.field_of_study, Biotinidase, business.industry, Biotinidase deficiency, Original Articles, medicine.disease, Hypotonia, Phenotype, 030104 developmental biology, Endocrinology, Hair loss, chemistry, Mutation, Original Article, Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e26a3a3aaf929b474dee4248631b9f7Test
https://doi.org/10.1002/mgg3.1591Test

المؤلفون: Elizabeth R. Kellom, Gregory M. Rice, Kimberly E Stepien, Barry Wolf

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100696-(2021)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Weakness, Case Report, Optic neuropathy, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Atrophy, Genetics, medicine, Biotinidase activity, Molecular Biology, lcsh:QH301-705.5, Exome sequencing, 0303 health sciences, lcsh:R5-920, business.industry, Biotinidase deficiency, 030305 genetics & heredity, medicine.disease, Peripheral neuropathy, lcsh:Biology (General), Differential diagnosis, medicine.symptom, business, lcsh:Medicine (General), 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7ddb2d5cd88571db42253b9c72831afTest
http://europepmc.org/articles/PMC7750409Test

المؤلفون: Rzayev, Agshın

المساهمون: Zeybek, Ayşe Çiğdem Aktuğlu

مصطلحات موضوعية: Anahtar Kelimeler, biotinidase deficiency, newborn screening, biotinidase activity, BTD gene mutation, Çocuk Sağlığı ve Hastalıkları, Child Health and Diseases, Bebek-yenidoğmuş, Infant-newborn, Bebekler, Infant, Biotin, Biotinidaz, Biotinidase, Laboratuvarlar, Laboratories, Mutasyon, Mutation, Teşhis testleri, Diagnostic tests

العلاقة: Tez; https://tez.yok.gov.tr/UlusalTezMerkezi/TezGoster?key=wf-FPgY-5qjHEzEoOgvMs4SX4Gyz3Mlf9g5JgTL6UkVXeRW9zgrb6K3z5y8_0VU6Test; https://hdl.handle.net/20.500.12831/10309Test; 90; 656147

الإتاحة: https://doi.org/20.500.12831/10309Test
https://tez.yok.gov.tr/UlusalTezMerkezi/TezGoster?key=wf-FPgY-5qjHEzEoOgvMs4SX4Gyz3Mlf9g5JgTL6UkVXeRW9zgrb6K3z5y8_0VU6Test
https://hdl.handle.net/20.500.12831/10309Test

المؤلفون: M.R. Rowani, Yusnita Yakob, O. Affandi, Anasufiza Habib, Nor Azimah Abdul Azize, Ngu Lock Hock, M. Mardhiah

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

مصطلحات موضوعية: Newborn screening, medicine.medical_specialty, Ataxia, Biotin, Case Report, Compound heterozygosity, Gastroenterology, 03 medical and health sciences, chemistry.chemical_compound, Acylcarnitine, 0302 clinical medicine, Endocrinology, Internal medicine, Genetics, medicine, Biotinidase activity, lcsh:QH301-705.5, Molecular Biology, lcsh:R5-920, 0303 health sciences, business.industry, Biotinidase deficiency, 030305 genetics & heredity, medicine.disease, Hypotonia, lcsh:Biology (General), chemistry, Mutation, Biotinidase, medicine.symptom, lcsh:Medicine (General), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb746dfb74b0ea4af586e1b65c9e02e3Test
http://europepmc.org/articles/PMC7144277Test

المؤلفون: Deniz Kor, Gulsah Seydaoglu, Serdar Ceylaner, Murat Öktem, Derya Bulut, Berna Şeker Yılmaz, Neslihan Önenli Mungan

المصدر: Journal of Pediatric Endocrinology and Metabolism. 31:339-343

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Turkey, Endocrinology, Diabetes and Metabolism, Biotin, Gastroenterology, Asymptomatic, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Endocrinology, Gene Frequency, Internal medicine, medicine, Humans, Biotinidase activity, Allele frequency, Biotinidase Deficiency, Newborn screening, Mutation Spectra, Biotinidase, business.industry, Biotinidase deficiency, Homozygote, Infant, Newborn, medicine.disease, 030104 developmental biology, Inborn error of metabolism, Mutation, Pediatrics, Perinatology and Child Health, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2884aece7611b5b2e781c4f7f74197eTest
https://doi.org/10.1515/jpem-2017-0406Test