Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Risto Lapatto"'
Autor:
Johanna Uusimaa, Johannes Kettunen, Teppo Varilo, Irma Järvelä, Jukka Kallijärvi, Helena Kääriäinen, Minna Laine, Risto Lapatto, Päivi Myllynen, Harri Niinikoski, Elisa Rahikkala, Anu Suomalainen, Ritva Tikkanen, Henna Tyynismaa, Päivi Vieira, Tomas Zarybnicky, Petra Sipilä, Satu Kuure, Reetta Hinttala
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 10 (2022)
Externí odkaz:
https://doaj.org/article/2a119f42fcfd41c2a9c6dcffb987c478
Autor:
Rocio Maldonado, Sami Jalil, Timo Keskinen, Anni I. Nieminen, Mervi E. Hyvönen, Risto Lapatto, Kirmo Wartiovaara
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100863- (2022)
Hyperornithinemia with gyrate atrophy of the choroid and retina (HOGA) is a severe recessive inherited disease, causing muscular degeneration and retinochoroidal atrophy that progresses to blindness. HOGA arises from mutations in the ornithine aminot
Externí odkaz:
https://doaj.org/article/587f0cdc36a4415e9fccd848fc8523ef
Publikováno v:
BMC Medical Informatics and Decision Making, Vol 21, Iss 1, Pp 1-12 (2021)
Abstract Background A range of factors can reduce the effectiveness of treatment prescribed for the long-term management of chronic health conditions, such as growth disorders. In particular, prescription medications may not achieve the positive outc
Externí odkaz:
https://doaj.org/article/914eb24a7e694eca9cd871f605fc00e4
Autor:
Juan Emmanuel Dewez, Lucy Pembrey, Ruud G Nijman, Stefano Del Torso, Zachi Grossman, Adamos Hadjipanayis, Diego Van Esso, Emma Lim, Marieke Emonts, James Burns, Christèle Gras-LeGuen, Daniela Kohlfuerst, Hans Jürgen Dornbusch, Karen Brengel-Pesce, Francois Mallet, Ulrich von Both, Maria Tsolia, Irini Eleftheriou, Dace Zavadska, Ronald de Groot, Michiel van der Flier, Henriëtte Moll, Nienke Hagedoorn, Dorine Borensztajn, Rianne Oostenbrink, Taco Kuijpers, Marko Pokorn, Katarina Vincek, Federico Martinón-Torres, Irene Rivero, Philipp Agyeman, Enitan D Carrol, Stéphane Paulus, Aubrey Cunnington, Jethro Herberg, Michael Levin, Aida Mujkić, Karin Geitmann, Liviana Da Dalt, Arūnas Valiulis, Risto Lapatto, Garyfallia Syridou, Péter Altorjai, Paul Torpiano, Ketil Størdal, Károly Illy, Artur Mazur, Mateja Vintar Spreitzer, Joana Rios, Corinne Wyder, Ivanna Romankevych, Romain Basmaci, Salvador Ibanez-Mico, Shunmay Yeung
Publikováno v:
PLoS ONE, Vol 17, Iss 12, p e0275336 (2022)
BackgroundPoint-of-care-tests (POCTs) have been advocated to optimise care in patients with infections but their actual use varies. This study aimed to estimate the variability in the adoption of current POCTs by paediatricians across Europe, and to
Externí odkaz:
https://doaj.org/article/c13cbd070cfb4a0aab2e2c5e9a0130b3
Autor:
Anna-Kaisa Tuomaala, Matti Hero, Martti T. Tuomisto, Maria Lähteenmäki, Päivi J. Miettinen, Tiina Laine, Karoliina Wehkalampi, Sanne Kiiveri, Pekka Ahonen, Marja Ojaniemi, Kari Kaunisto, Päivi Tossavainen, Risto Lapatto, Taisto Sarkola, Mari-Anne Pulkkinen
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
A multicenter randomized controlled pilot trial investigated whether motivational interviewing (MI) by diabetes physicians improves glycemic control and variability in the context of follow-up for adolescent patients with poorly controlled type 1 dia
Externí odkaz:
https://doaj.org/article/6bffa6923c1d4872b50e660f2120296a
Autor:
Elena Levtchenko, Aude Servais, Sally A Hulton, Gema Ariceta, Francesco Emma, David S Game, Karin Lange, Risto Lapatto, Hong Liang, Rebecca Sberro-Soussan, Rezan Topaloglu, Anibh M Das, Nicholas J A Webb, Christoph Wanner
Publikováno v:
Scientia
Clinical recommendations; Cystinosis; Multidisciplinary care Recomendaciones clínicas; Cistinosis; Atención multidisciplinaria Recomanacions clíniques; Cistinosi; Atenció multidisciplinària Cystinosis, a rare autosomal recessive lysosomal storag
Autor:
Juan Emmanuel Dewez, Lucy Pembrey, Ruud G. Nijman, Stefano del Torso, Zachi Grossman, Adamos Hadjipanayis, Diego Van Esso, Emma Lim, Marieke Emonts, James Burns, Christèle Gras-LeGuen, Daniela Kohlfuerst, Hans Jürgen Dornbusch, Karen Brengel-Pesce, Francois Mallet, Ulrich von Both, Maria Tsolia, Irini Eleftheriou, Dace Zavadska, Ronald de Groot, Michiel van der Flier, Henriëtte Moll, Nienke Hagedoorn, Dorine Borensztajn, Rianne Oostenbrink, Taco Kuijpers, Marko Pokorn, Katarina Vincek, Federico Martinón-Torres, Irene Rivero, Philipp Agyeman, Enitan D. Carrol, Stéphane Paulus, Aubrey Cunnington, Jethro Herberg, Michael Levin, Aida Mujkić, Karin Geitmann, Liviana Da Dalt, Arūnas Valiulis, Risto Lapatto, Garyfallia Syridou, Péter Altorjai, Paul Torpiano, Ketil Størdal, Károly Illy, Artur Mazur, Mateja Vintar Spreitzer, Joana Rios, Corinne Wyder, Ivanna Romankevych, Romain Basmaci, Salvador Ibanez-Mico, Shunmay Yeung
Publikováno v:
Dewez, J E, Pembrey, L, Nijman, R G, del Torso, S, Grossman, Z, Hadjipanayis, A, van Esso, D, Lim, E, Emonts, M, Burns, J, Gras-LeGuen, C, Kohlfuerst, D, Dornbusch, H J R, Brengel-Pesce, K, Mallet, F, von Both, U, Tsolia, M, Eleftheriou, I, Zavadska, D, de Groot, R, van der Flier, M, Moll, H, Hagedoorn, N, Borensztajn, D, Oostenbrink, R, Kuijpers, T, Pokorn, M, Vincek, K, Martinó n-Torres, F, Rivero, I, Agyeman, P, Carrol, E D, Paulus, S, Cunnington, A, Herberg, J, Levin, M, Mujkić, A, Geitmann, K, da Dalt, L, Valiulis, A, Lapatto, R, Syridou, G, Altorjai, P T, Torpiano, P, Størdal, K, Illy, K R, Mazur, A, Spreitzer, M V, Rios, J, Wyder, C, Romankevych, I, Basmaci, R, Ibanez-Mico, S & Yeung, S 2022, ' Availability and use of rapid diagnostic tests for the management of acute childhood infections in Europe : A cross-sectional survey of paediatricians ', PLoS ONE, vol. 17, no. 12 December, e0275336 . https://doi.org/10.1371/journal.pone.0275336
PLoS One, 17, 12
PLoS One, 17
Plos One, San Francisco : Public Library of Science, 2022, vol. 17, no. 12, art. no. e0275336, p. 367-374
PLoS ONE, 17(12 December):e0275336. Public Library of Science
Dewez, Juan Emmanuel; Pembrey, Lucy; Nijman, Ruud G; Del Torso, Stefano; Grossman, Zachi; Hadjipanayis, Adamos; Van Esso, Diego; Lim, Emma; Emonts, Marieke; Burns, James; Gras-LeGuen, Christèle; Kohlfuerst, Daniela; Dornbusch, Hans Jürgen; Brengel-Pesce, Karen; Mallet, Francois; von Both, Ulrich; Tsolia, Maria; Eleftheriou, Irini; Zavadska, Dace; de Groot, Ronald; ... (2022). Availability and use of rapid diagnostic tests for the management of acute childhood infections in Europe: A cross-sectional survey of paediatricians. PLoS ONE, 17(12), e0275336. Public Library of Science 10.1371/journal.pone.0275336
PLoS One, 17, 12
PLoS One, 17
Plos One, San Francisco : Public Library of Science, 2022, vol. 17, no. 12, art. no. e0275336, p. 367-374
PLoS ONE, 17(12 December):e0275336. Public Library of Science
Dewez, Juan Emmanuel; Pembrey, Lucy; Nijman, Ruud G; Del Torso, Stefano; Grossman, Zachi; Hadjipanayis, Adamos; Van Esso, Diego; Lim, Emma; Emonts, Marieke; Burns, James; Gras-LeGuen, Christèle; Kohlfuerst, Daniela; Dornbusch, Hans Jürgen; Brengel-Pesce, Karen; Mallet, Francois; von Both, Ulrich; Tsolia, Maria; Eleftheriou, Irini; Zavadska, Dace; de Groot, Ronald; ... (2022). Availability and use of rapid diagnostic tests for the management of acute childhood infections in Europe: A cross-sectional survey of paediatricians. PLoS ONE, 17(12), e0275336. Public Library of Science 10.1371/journal.pone.0275336
Background Point-of-care-tests (POCTs) have been advocated to optimise care in patients with infections but their actual use varies. This study aimed to estimate the variability in the adoption of current POCTs by paediatricians across Europe, and to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73909fec4d518262c1693bd35e03009d
https://research.vumc.nl/en/publications/b836e992-2e0c-4201-93bc-18fcc623f0bd
https://research.vumc.nl/en/publications/b836e992-2e0c-4201-93bc-18fcc623f0bd
Autor:
Monique Williams, Vassili Valayannopoulos, Gajja S. Salomons, Majid Alfadhel, Anna Tylki-Szymańska, Hajar Alakeel, Wendy K. Chung, Mirjam M.C. Wamelink, Ruqaiah S. Al-Tassan, Marie-Jose E. Walenkamp, Risto Lapatto, Patricia McClean, Margot F. Mulder, Wei Teik Keng, Annemieke C. Heijboer, Wafaa Eyaid
Publikováno v:
Journal of Inherited Metabolic Disease, 42(1), 147-158. Springer Netherlands
Journal of inherited metabolic disease, 42(1), 147-158. Springer Netherlands
Williams, M, Valayannopoulos, V, Altassan, R, Chung, W K, Heijboer, A C, Keng, W T, Lapatto, R, McClean, P, Mulder, M F, Tylki-Szymańska, A, Walenkamp, M-J E, Alfadhel, M, Alakeel, H, Salomons, G S, Eyaid, W & Wamelink, M M C 2019, ' Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function : update of 34 patients ', Journal of Inherited Metabolic Disease, vol. 42, no. 1, pp. 147-158 . https://doi.org/10.1002/jimd.12036
Journal of inherited metabolic disease, 42(1), 147-158. Springer Netherlands
Williams, M, Valayannopoulos, V, Altassan, R, Chung, W K, Heijboer, A C, Keng, W T, Lapatto, R, McClean, P, Mulder, M F, Tylki-Szymańska, A, Walenkamp, M-J E, Alfadhel, M, Alakeel, H, Salomons, G S, Eyaid, W & Wamelink, M M C 2019, ' Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function : update of 34 patients ', Journal of Inherited Metabolic Disease, vol. 42, no. 1, pp. 147-158 . https://doi.org/10.1002/jimd.12036
BackgroundTransaldolase deficiency (TALDO-D) is a rare autosomal recessive inborn error of the pentose phosphate pathway. Since its first description in 2001, several case reports have been published, but there has been no comprehensive overview of p
Autor:
Paul Dimitri, Luis Fernandez-Luque, Indraneel Banerjee, Ignacio Bergadá, Luis Eduardo Calliari, Jovanna Dahlgren, Antonio de Arriba, Risto Lapatto, Thomas Reinehr, Senthil Senniappan, Cécile Thomas-Teinturier, Meng-Che Tsai, Azriyanti Anuar Zaini, Merat Bagha, Ekaterina Koledova
Publikováno v:
Journal of Medical Internet Research
Journal of Medical Internet Research, Vol 23, Iss 5, p e27446 (2021)
Journal of Medical Internet Research, Vol 23, Iss 5, p e27446 (2021)
BACKGROUND The use of technology to support health and health care has grown rapidly in the last decade across all ages and medical specialties. Newly developed eHealth tools are being implemented in long-term management of growth failure in children
Autor:
Anna-Kaisa, Tuomaala, Matti, Hero, Martti T, Tuomisto, Maria, Lähteenmäki, Päivi J, Miettinen, Tiina, Laine, Karoliina, Wehkalampi, Sanne, Kiiveri, Pekka, Ahonen, Marja, Ojaniemi, Kari, Kaunisto, Päivi, Tossavainen, Risto, Lapatto, Taisto, Sarkola, Mari-Anne, Pulkkinen
Publikováno v:
Frontiers in Endocrinology
A multicenter randomized controlled pilot trial investigated whether motivational interviewing (MI) by diabetes physicians improves glycemic control and variability in the context of follow-up for adolescent patients with poorly controlled type 1 dia