Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Natalia Usurelu"'
Publikováno v:
The Moldovan Medical Journal, Vol 64, Iss 4, Pp 50-54 (2021)
Background: Congenital Disorders of Glycosylation (CDG) are a group of inherited metabolic disorders caused by the defect in various steps in the biosynthesis of glycoproteins and other glycoconjugates. Material and methods: 40 patients under clinica
Externí odkaz:
https://doaj.org/article/bcb9c4742d6541d0bcea3cf2c54350e3
Autor:
Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Abstract Background Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU
Externí odkaz:
https://doaj.org/article/fa8d0419b00e4e5aaeec6593e5894762
Autor:
J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda, Peter C.J.I. Schielen
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 1, p 15 (2021)
Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass
Externí odkaz:
https://doaj.org/article/b2da148c817c463e8d75115a3ccc2d88
Publikováno v:
XIth International Congress of Geneticists and Breeders from the Republic of Moldova.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0dde8755e3e047372d8a624d97ecbcd5
https://doi.org/10.53040/cga11.2021.046
https://doi.org/10.53040/cga11.2021.046
Publikováno v:
XIth International Congress of Geneticists and Breeders from the Republic of Moldova.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0dabfcbc7d42436c63bd4b9b6bb24417
https://doi.org/10.53040/cga11.2021.024
https://doi.org/10.53040/cga11.2021.024
Publikováno v:
XIth International Congress of Geneticists and Breeders from the Republic of Moldova.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::56752878fc3350ae4500b0d9ffd147fb
https://doi.org/10.53040/cga11.2021.023
https://doi.org/10.53040/cga11.2021.023
Publikováno v:
XIth International Congress of Geneticists and Breeders from the Republic of Moldova.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1374911ddf6b4f8471805aff06e53dc3
https://doi.org/10.53040/cga11.2021.144
https://doi.org/10.53040/cga11.2021.144
Autor:
Chiril Boiciuc, Paul Tutac, Maria Puiu, Adela Chirita-Emandi, Nicoleta Andreescu, Victoria Sacara, Corina Paul, Iulian Velea, Natalia Usurelu, Agneta Maria Pusztai, Lorina Vudu, Diana Munteanu, Victoria Hlistun
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 32:33-39
Background Previous genome-wide association studies (GWAS) identified IGF1, IRS1, GCKR, PPARG, GCK1 and KCTD1 as candidate genes for insulin resistance and type 2 diabetes (T2D). We investigated the associations of these previously reported common va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5ca2b58e8019272dbd34449baa1da56
https://doi.org/10.1515/jpem-2018-0288
https://doi.org/10.1515/jpem-2018-0288
Autor:
Maximilian Zeyda, Viktor Kozich, Dimitris Platis, Damilya Salimbayeva, Patricia Borde, Jurgita Songailiene, Vyacheslav Mitkin, Dobry Dimitrov, Basak Tezel, David Cheillan, Nazi Tabatadze, Tatjana Milenkovic, Rolf Zetterström, Loretta O'Grady, Urh Groselj, Mirjana Kocova, Leifur Franzson, François Boemer, Natalia Usurelu, Ian Brincat, Maria Knapkova, Anastasiia Kremezna, James R. Bonham, Eugènie H. B. M. Dekkers, Peter C. J. I. Schielen, Mira Samardzic, Parsla Vevere, Danijela Ramadza, Shlomo Almashanu, Rolf D. Pettersen, Ruth Mikelsaar, Mariusz Ołtarzewski, Vjosa Kotori, Florentina Moldovanu, Marios Vogazianos, Ralph Fingerhut, Raquel Yahyaoui, Ildikó Szatmári, David M. Hougaard, J. Gerard Loeber, Uta Ceglarek, Riikka Kurkijärvi, Alma Toromanovic, Irina Tovmasyan, Markhabo Shamsiddinova, Giancarlo la Marca, Laura Vilarinho
Publikováno v:
International Journal of Neonatal Screening
International Journal of Neonatal Screening, MDPI, 2021, 7 (1), pp.15. ⟨10.3390/ijns7010015⟩
Volume 7
Issue 1
International journal of neonatal screening, Basel : MDPI, 2021, vol. 7, iss. 1, art. no. 15, p. [1-21]
International Journal of Neonatal Screening, Vol 7, Iss 15, p 15 (2021)
International Journal of Neonatal Screening, MDPI, 2021, 7 (1), pp.15. ⟨10.3390/ijns7010015⟩
Volume 7
Issue 1
International journal of neonatal screening, Basel : MDPI, 2021, vol. 7, iss. 1, art. no. 15, p. [1-21]
International Journal of Neonatal Screening, Vol 7, Iss 15, p 15 (2021)
International audience; Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then gradually expanded, with a boost in the late 1990s with the introduc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a8d05e2876f51b49ff9cea9d13f73c4
https://www.hal.inserm.fr/inserm-03337431/file/IJNS-07-00015-v3.pdf
https://www.hal.inserm.fr/inserm-03337431/file/IJNS-07-00015-v3.pdf
Autor:
Ana Oglinda, Dorina Rotaru, Mihaela Cristea, Andreea Tutulan-Cunita, Isabela Tarcomnicu, Adela Stamati, Chiril Boiciuc, Danae Stambouli, Ninel Revenco, Daniela Blanita, Alina Nicolescu, Sergiu Gladun, Natalia Usurelu, Ludmila Pinzari, Victoria Hlistun, Calin Deleanu
Publikováno v:
Molecules, Vol 25, Iss 5312, p 5312 (2020)
Molecules
Volume 25
Issue 22
Molecules
Volume 25
Issue 22
The paper reports on monitoring methylmalonic aciduria (MMA)-specific and non-specific metabolites via NMR urinomics. Five patients have been monitored over periods of time
things involved were diet, medication and occasional episodes of failing
things involved were diet, medication and occasional episodes of failing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6224d0f1d869ee826a6da00d7c939955
https://www.mdpi.com/1420-3049/25/22/5312
https://www.mdpi.com/1420-3049/25/22/5312