Homocystinuria in Children

Autor: Alexander A. Baranov, Leyla S. Namazova-Baranova, Tatyana E. Borovik, Tatyana V. Bushueva, Oksana V. Globa, Natalya V. Zhurkova, Elena A. Vishneva, Ekaterina Yu. Zakharova, Natalya G. Zvonkova, Ljudmila M. Kuzenkova, Sergey I. Kutsev, Svetlana V. Mikhaylova, Ekaterina A. Nikolaeva, Petr V. Novikov, Alexandr A. Pushkov, Kirill V. Savostyanov, Elena Yu. Voskoboeva, Liliia R. Selimzianova, Alla N. Semyachkina

Publikováno v: Вопросы современной педиатрии, Vol 16, Iss 6, Pp 457-467 (2018)

Homocystinuria is a genetically heterogeneous hereditary disease from the group of aminoacidopathies caused by a metabolic disorder of sulphur-containing amino acids, primarily methionine. The article presents the etiopathogenetic, diagnostic and the

Externí odkaz: https://doaj.org/article/5f29b37e5a434ef1a21f1a00fa3b8298

Preparation of amino acid mixtures for cell-free expression systems

Autor: Filippo Caschera, Vincent Noireaux

Publikováno v: BioTechniques, Vol 58, Iss 1, Pp 40-43 (2015)

Here we present a procedure for preparing amino acid mixtures–having both the desired composition and a physiological pH–at high concentrations for cell-free expression systems. Up to 2.1 mg/mL of active protein was synthesized in batch mode reac

Externí odkaz: https://doaj.org/article/33fe5f618ed34b54b84c0ff09737ab6e

Mechanisms of ischemic liver damage disorders and ways of their correction using a new amino acid mixture based on sodium succinate and mannitol

Autor: Sayfutdinova Z.A, Karimov Kh.Ya, Saidov A.B

The aim of the study. Conduct an open-label randomized study to study the effectiveness of a new amino acid mixture based on sodium succinate and mannitol in the course of experimental toxic hepatitis. Materials and research methods. Acute heliotrin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9a174dbe63e7e7facaee519c63adeba

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry

Autor: Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Barić, Ivo, Lund, Allan M., Kölker, Stefan, Williams, Monique, Hörster, F., Jelsig, A.M., de Lonlay, P., Wijburg, F.A., Bosch, A., Freisinger, P., Posset, R., Augoustides‐Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M.R., Häberle, J., Blasco‐ Alonso, J., Burlina, A.B., Rubert, L., Cazorla, A. Garcia, Saladelafont, E. Cortes i, Dionisi‐ Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, Wuh‐Liang, Chien, Yin‐Hsiu, Lee, Ni‐Chung, Karall, D., Scholl‐Bürgi, S., Lachmann, R., De Laet, C., Matsumoto, S., de Meirleir, L., Mühlhausen, C., Schiff, M., Peña‐Quintana, L., Djordjevic, M., Sarajlija, A., Sykut‐Cegielska, J., Wisniewska, A., Leao‐Teles, E., Alves, S., Vara, R., Vives‐Pinera, I., Ortega, D.G., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M.C., Additional individual contributors from E‐IMD

Publikováno v: Molema, F, Gleich, F, Burgard, P, van der Ploeg, A T, Summar, M L, Chapman, K A, Barić, I, Lund, A M, Kölker, S, Williams, M & Additional individual contributors from E-IMD 2019, ' Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry ', Journal of Inherited Metabolic Disease, vol. 42, no. 6, pp. 1162-1175 . https://doi.org/10.1002/jimd.12066
Journal of Inherited Metabolic Disease, 42(6), 1162-1175. Springer Netherlands
Journal of inherited metabolic disease, 42(6), 1162-1175. Springer Netherlands
Journal of inherited metabolic disease

Organic acidurias (OAD) and urea-cycle disorders (UCD) are rare inherited disorders affecting amino acid and protein metabolism. As dietary practice varies widely, we assessed their long-term prescribed dietary treatment against published guideline a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b89b7c01c485c59a8126f7cfff030cc7
https://doi.org/10.1002/jimd.12066

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