المؤلفون: Lafcı, Naz Guleray^Aff1, Colak, Fatma Kurt, Sahin, Gulseren, Sakar, Merve, Çetinkaya, Semra, Savas-Erdeve, Senay

المصدر: Hormones: International Journal of Endocrinology and Metabolism. 20(3):581-585

المؤلفون: Jiaxin Xue, Jin Han, Xiaopeng Zhao, Li Zhen, Shanshan Mei, Zhiyang Hu, Xiuzhen Li

المصدر: Frontiers in Genetics, Vol 12 (2022)

مصطلحات موضوعية: Transaldolase deficiency, pentose phosphate pathway, TALDO1, prenatal diagnosis, whole-exome sequencing (WES), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.752272/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/139d65cb51044e81aaf52805a5656f44

المؤلفون: Lee-Barber, Jasmine^{Aff13, Aff14}, English, Taylor E.^Aff15, Britton, Jacquelyn F.^Aff14, Sobreira, Nara^{Aff13, Aff14}, Goldstein, Jason^Aff16, Valle, David^{Aff13, Aff14}, Bjornsson, Hans Tomas^{Aff13, Aff14, Aff17, Aff18}

المساهمون: Baumgartner, Matthias, Series Editor^{Aff1, Aff8}, Patterson, Marc, Series Editor^{Aff2, Aff9}, Rahman, Shamima, Series Editor^{Aff3, Aff10}, Peters, Verena, Series Editor^{Aff4, Aff12}, Morava, Eva, Editor-in-Chief^{Aff5, Aff7}, Zschocke, Johannes, Series Editor^{Aff6, Aff11}

المصدر: JIMD Reports, Volume 44. 44:9-15

المؤلفون: Al-Mayouf, Sulaiman M.^Aff1, AlTassan, Ruqaiah S., AlOwain, Mohammed A.

المصدر: Clinical Rheumatology: Journal of the International League of Associations for Rheumatology. 39(11):3511-3515

المؤلفون: Rodan, Lance H.^Aff13, Berry, Gerard T.^Aff13

المساهمون: Baumgartner, Matthias R., Series editor^Aff1, Patterson, Marc, Series editor^{Aff2, Aff9}, Rahman, Shamima, Series editor^{Aff3, Aff10}, Peters, Verena, Series editor^{Aff4, Aff12}, Morava, Eva, Editor-in-chief^{Aff5, Aff7}, Zschocke, Johannes, Series editor^{Aff6, Aff11}, Baumgartner, Matthias, editor^Aff8

المصدر: JIMD Reports, Volume 31. 31:73-77

المؤلفون: Marek Stefanowicz, Maria Janowska, Joanna Pawłowska, Anna Tylki-Szymańska, Adam Kowalski, Marek Szymczak, Piotr Kaliciński, Irena Jankowska

المصدر: Children, Vol 8, Iss 9, p 746 (2021)

مصطلحات موضوعية: transaldolase deficiency, TALDO, liver transplantation, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9067/8/9/746; https://doaj.org/toc/2227-9067

URL الوصول: https://doaj.org/article/2221847ad5504659ad07f231aaa8f540

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Gabriella Miklossy, Aydan Kansu, Laszlo Szonyi, John R. Jimah, Craig C Grossman, Miguel Beckford, Ryan Kelly, Sanjay K. Banerjee, Zarife Kuloğlu, William E. Lee, Katalin Banki, Brian Niland, Zachary Oaks, Andras Perl

المصدر: Journal of Inherited Metabolic Disease

مصطلحات موضوعية: Adult, Liver Cirrhosis, Male, medicine.medical_specialty, Carcinoma, Hepatocellular, Cirrhosis, prevalence, Haploinsufficiency, Transaldolase deficiency, Pentose Phosphate Pathway, Mice, Young Adult, 03 medical and health sciences, Liver disease, Internal medicine, transaldolase deficiency, Genetics, Animals, Humans, Medicine, variations, Genetics (clinical), acetaminophen, 030304 developmental biology, Mice, Knockout, Liver injury, 0303 health sciences, business.industry, Liver Neoplasms, 030305 genetics & heredity, Original Articles, medicine.disease, Transaldolase, Acetylcysteine, Mitochondria, Acetaminophen, Oxidative Stress, Endocrinology, Hepatocellular carcinoma, Female, Original Article, liver disease, business, Liver Failure, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96d8010587e0d0d02fc4eae09dc13213
https://doi.org/10.1002/jimd.12197

المؤلفون: Verhoeven-Duif, Nanda^Aff4, Wamelink, Mirjam M.C.^Aff5, Jakobs, Cornelis^Aff6

المساهمون: Blau, Nenad, editor^Aff1, Duran, Marinius, editor^Aff2, Gibson, K. Michael, editor^Aff3

المصدر: Laboratory Guide to the Methods in Biochemical Genetics. :473-482

المؤلفون: Adam D. Kennedy, Catherine Nowak, Sarah H. Elsea, Jing Xiao, V. Reid Sutton, Gerard T. Berry, Charul Gijavanekar, Kirk L. Pappan, Christina VanderPluym, Leroy Hubert, Taraka R. Donti, Hans T. Bjornsson, Brian J. Shayota, Qin Sun, Lance H. Rodan, Rebecca D. Ganetzky

المصدر: Mol Genet Metab

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Endocrinology, Diabetes and Metabolism, Computational biology, 030105 genetics & heredity, Pentose phosphate pathway, Transketolase, Transaldolase deficiency, Biochemistry, Article, Mass Spectrometry, Pentose Phosphate Pathway, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Metabolomics, Genetics, medicine, Metabolome, Humans, Child, Molecular Biology, business.industry, Infant, medicine.disease, Transaldolase, Sedoheptulose, chemistry, Inborn error of metabolism, Child, Preschool, Female, business, Biomarkers, Metabolism, Inborn Errors, 030217 neurology & neurosurgery, Carbohydrate Metabolism, Inborn Errors, Chromatography, Liquid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e727f73f53e61a73baccf583a93a925
https://doi.org/10.1016/j.ymgme.2020.07.013