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المؤلفون: Edyta Szymanska, Malgorzata Sredzinska, Elzbieta Ciara, Dorota Piekutowska-Abramczuk, Rafal Ploski, Dariusz Rokicki, Anna Tylki-Szymanska

المصدر: Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 48-50 (2015)

مصطلحات موضوعية: Tyrosinemia type III, Tyrosine metabolism, HPD gene, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426915300392; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/f1b89d0142994cadbdf5a3c176ebd958

المؤلفون: Liting Jia, Xinyun Zhu, Xiaole Li, Yuan Tian, Min Ni, Dehua Zhao

المصدر: Journal of Pediatric Endocrinology and Metabolism. 33:563-567

مصطلحات موضوعية: 0301 basic medicine, Genetics, Sanger sequencing, Mutation, Pregnancy, Newborn screening, 030102 biochemistry & molecular biology, business.industry, Endocrinology, Diabetes and Metabolism, Birth weight, 010401 analytical chemistry, medicine.disease, medicine.disease_cause, 01 natural sciences, 0104 chemical sciences, 03 medical and health sciences, symbols.namesake, Endocrinology, Pediatrics, Perinatology and Child Health, medicine, symbols, Tyrosinemia type III, Hawkinsinuria, business, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f00bc289afacce756db33d80ee4b48e4
https://doi.org/10.1515/jpem-2019-0498

المؤلفون: Reza Najafi, Neda Mostofizadeh, Mahin Hashemipour

المصدر: Advanced Biomedical Research, Vol 7, Iss 1, Pp 7-7 (2018)

مصطلحات موضوعية: Mental retardation, status epilepticus, tyrosinemia type III, Medicine, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.advbiores.net/article.asp?issn=2277-9175;year=2018;volume=7;issue=1;spage=7;epage=7;aulast=Najafi; https://doaj.org/toc/2277-9175

URL الوصول: https://doaj.org/article/f4623406ea8c4b9ea03f0df99625752f

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المؤلفون: Muhammad Naveed, Muhammad Zubair Mehboob, Sana Tehreem

المصدر: Computational Biology and Chemistry. 80:284-291

مصطلحات موضوعية: Models, Molecular, 0301 basic medicine, In silico, Mutation, Missense, Single-nucleotide polymorphism, Biology, 4-Hydroxyphenylpyruvate Dioxygenase, Polymorphism, Single Nucleotide, Biochemistry, Mixed Function Oxygenases, Conserved sequence, 03 medical and health sciences, 0302 clinical medicine, Structural Biology, medicine, Humans, Missense mutation, Computer Simulation, Tyrosinemia type III, Tyrosine, Hawkinsinuria, Gene, Genetics, Binding Sites, Tyrosinemias, Organic Chemistry, Computational Biology, medicine.disease, Computational Mathematics, 030104 developmental biology, 030220 oncology & carcinogenesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92f31f24650dae00f3f8a15e04ef59ea
https://doi.org/10.1016/j.compbiolchem.2019.04.007

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المؤلفون: Nakamura, Kimitoshi^Aff1_3388, Matsumoto, Shiro^Aff1_3388, Mitsubuchi, Hiroshi^Aff1_3388, Endo, Fumio^Aff1_3388

المساهمون: Lang, Florian, editor^Aff1

المصدر: Encyclopedia of Molecular Mechanisms of Disease. :2134-2134

المؤلفون: Mariam Rajab, Sirin Mneimneh, Aisha Zaylaa, Farah Awad, Mariam Sbeity, Zeina Naja, Georges Haber, Hassan El Khatib, Bilal Asaad

المصدر: Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 7 (2019)

مصطلحات موضوعية: medicine.medical_specialty, Case Report, hawkinsinuria, direct hyperbilirubinemia, 030204 cardiovascular system & hematology, Pediatrics, Tyrosinemia, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Internal medicine, Medicine, Tyrosinemia type III, Hawkinsinuria, Genetic testing, medicine.diagnostic_test, business.industry, heterozygous mutation, lcsh:RJ1-570, Autosomal dominant trait, Metabolic acidosis, lcsh:Pediatrics, medicine.disease, Endocrinology, Pediatrics, Perinatology and Child Health, Failure to thrive, Mutation (genetic algorithm), HPD, medicine.symptom, business, tyrosine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e0ff6c2020dace8d6e8ddda3738355c
http://europepmc.org/articles/PMC6449416

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