المؤلفون: Charles Marques Lourenço, Janaina Dovidio, Isabela F. Lopes, Laís C. Silva, Marcela Almeida, Laura Vagnini, Jacqueline Fonseca, Zumira A. Carneiro, Beat Thöny

المصدر: JIMD Reports, Vol 61, Iss 1, Pp 19-24 (2021)

مصطلحات موضوعية: BH4 deficiency, dihydropteridine reductase (DHPR) gene, hyperphenylalaninemia, l‐DOPA, tetrahydrobiopterin, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/7b828b4eb5b847499bedf6164e4f39a5

المؤلفون: Beat Thöny, Zumira Aparecida Carneiro, Marcela Almeida, Isabela F. Lopes, Laura Vagnini, Laís C. Silva, Jacqueline Fonseca, Charles Marques Lourenço, Janaina Dovidio

المساهمون: University of Zurich, Lourenço, Charles Marques

المصدر: JIMD Reports
JIMD Reports, Vol 61, Iss 1, Pp 19-24 (2021)

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, BH4 deficiency, 610 Medicine & health, Case Report, Case Reports, QH426-470, Pharmacology, medicine.disease_cause, 1301 Biochemistry, Genetics and Molecular Biology (miscellaneous), Biochemistry, Genetics and Molecular Biology (miscellaneous), Diseases of the endocrine glands. Clinical endocrinology, Nitric oxide, Exon, chemistry.chemical_compound, Hyperphenylalaninemia, Genetics, Internal Medicine, medicine, Missense mutation, Mutation, hyperphenylalaninemia, business.industry, Tetrahydrobiopterin, RC648-665, medicine.disease, Dihydropteridine Reductase, 2712 Endocrinology, Diabetes and Metabolism, QDPR, chemistry, 10036 Medical Clinic, 2724 Internal Medicine, dihydropteridine reductase (DHPR) gene, tetrahydrobiopterin, business, l‐DOPA, medicine.drug

وصف الملف: JIMD_Reports_-_2021_-_Louren_o_-_Sapropterin_dihydrochloride_therapy_in_dihydropteridine_reductase_deficiency_Insight_from.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f9e3255be6f53f36392b9f4849fe8ae
https://doi.org/10.1002/jmd2.12224

المؤلفون: Armarego Wilfred L. F.

المصدر: Pteridines, Vol 9, Iss 2, Pp 55-85 (1998)

مصطلحات موضوعية: reduced pterins, methylation, conformations, absolute configurations of pterin cofactors, reactivity, dihydropteridine reductase (dhpr) and substrates, glyceryl-ether monooxygenase and substrates, active sites, cloning, mutant human dhprs, mouse dhpr, cdna sequence, Crystallography, QD901-999

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0933-4807; https://doaj.org/toc/2195-4720

URL الوصول: https://doaj.org/article/3aa8b72657214c56a142b21e91a06935

المؤلفون: Furujo Mahoko, Ichiba Yozo, Sintaku Haruo, Asada Minoru

المصدر: Pteridines, Vol 11, Iss 4, Pp 126-128 (2000)

مصطلحات موضوعية: tetrahydrobiopterin(bh4) loading test, dihydropteridine reductase (dhpr), hyperprolactinemia, neurotransmitter precursor, homovanillic acid (hva), 5-hydroxyindole acetic acid (5hiaa), 5- hydroxy tryptophan (5-htp), quinonoid dihydrobiopterin (qbh2)' phenylketonuria (pku), Crystallography, QD901-999

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0933-4807; https://doaj.org/toc/2195-4720

URL الوصول: https://doaj.org/article/747c9dd5b377495597d88b91137bf803

لا يتم عرض هذه النتيجة على الضيوف.
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المؤلفون: Wilfred L.F. Armarego

المصدر: Pteridines, Vol 9, Iss 2, Pp 55-85 (1998)

مصطلحات موضوعية: absolute configurations of pterin cofactors, dihydropteridine reductase (dhpr) and substrates, Cloning, mutant human dhprs, cdna sequence, Crystallography, mouse dhpr, Chemistry, Clinical Biochemistry, cloning, Methylation, Biochemistry, glyceryl-ether monooxygenase and substrates, reactivity, reduced pterins, QD901-999, active sites, conformations, Molecular Medicine, Reactivity (chemistry), methylation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73628c42da940eaaa3a4db900283cf72
https://doi.org/10.1515/pteridines.1998.9.2.55

المؤلفون: Minoru Asada, Haruo Sintaku, Yozo Ichiba, Mahoko Furujo

المصدر: Pteridines, Vol 11, Iss 4, Pp 126-128 (2000)

مصطلحات موضوعية: medicine.medical_specialty, Crystallography, business.industry, Clinical Biochemistry, 5- hydroxy tryptophan (5-htp), neurotransmitter precursor, dihydropteridine reductase (dhpr), Biochemistry, quinonoid dihydrobiopterin (qbh2)' phenylketonuria (pku), Dihydropteridine reductase deficiency, Endocrinology, hyperprolactinemia, QD901-999, Internal medicine, 5-hydroxyindole acetic acid (5hiaa), medicine, Molecular Medicine, tetrahydrobiopterin(bh4) loading test, homovanillic acid (hva), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a928fe8a471c8da5cb5b5f70f837fa4b
https://doaj.org/article/747c9dd5b377495597d88b91137bf803

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

لا يتم عرض هذه النتيجة على الضيوف.
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لا يتم عرض هذه النتيجة على الضيوف.
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