Research output per year
Research output per year
- 39 results
Search results
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2024
Genetic and functional correction of argininosuccinate lyase deficiency using CRISPR adenine base editors
Jalil, S., Keskinen, T., Juutila, J., Sartori Maldonado, R., Euro, L., Suomalainen, A., Lapatto, R., Kuuluvainen, E., Hietakangas, V., Otonkoski, T., Hyvönen, M. E. & Wartiovaara, K., 4 Apr 2024, In: American Journal of Human Genetics. 111, 4, p. 714-728 15 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
2023
European expert recommendations on clinical investigation and evaluation of high-risk medical devices for children
the European Academy of Paediatrics, Guerlich, K., Patro-Golab, B., Barnacle, A., Baumann, U., Eicken, A. G., Fraser, A., Gruszfeld, D. A., Haas, N. H., Jonker, A., Kammermeier, M., Kenny, D., Kolacek, S., Lapatto, R., Maconochie, I., Mader, S., McGauran, G., Melvin, T., Muensterer, O. & Piscoi, P. & 6 others, , Nov 2023, In: Acta Paediatrica. 112, 11, p. 2440-2448 9 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
2022
Availability and use of rapid diagnostic tests for the management of acute childhood infections in Europe: A cross-sectional survey of paediatricians
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., Brengel-Pesce, K., Mallet, F., von Both, U., Tsolia, M., Eleftheriou, I., Zavadska, D. & de Groot, R. & 34 others, , 20 Dec 2022, In: PLoS One. 17, 12, 22 p., e0275336.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy
Maldonado, R., Jalil, S., Keskinen, T., Nieminen, A. I., Hyvönen, M. E., Lapatto, R. & Wartiovaara, K., Jun 2022, In: Molecular Genetics and Metabolism Reports. 31, 6 p., 100863.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
2021
An eHealth Framework for Managing Pediatric Growth Disorders and Growth Hormone Therapy
Dimitri, P., Fernandez-Luque, L., Banerjee, I., Bergada, I., Calliari, L. E., Dahlgren, J., de Arriba, A., Lapatto, R., Reinehr, T., Senniappan, S., Thomas-Teinturier, C., Tsai, M.-C., Zaini, A. A., Bagha, M. & Koledova, E., 20 May 2021, In: Journal of Medical Internet Research. 23, 5, 13 p., 27446.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Connected health for growth hormone treatment research and clinical practice: learnings from different sources of real-world evidence (RWE)-large electronically collected datasets, surveillance studies and individual patients' cases
Boman, N., Fernandez-Luque, L., Koledova, E., Kause, M. & Lapatto, R., 26 Apr 2021, In: BMC Medical Informatics and Decision Making. 21, 1, 12 p., 136.Research output: Contribution to journal › Article › Scientific › peer-review
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Motivational Interviewing and Glycemic Control in Adolescents With Poorly Controlled Type 1 Diabetes: A Randomized Controlled Pilot Trial
Tuomaala, A.-K., Hero, M., Tuomisto, M. T., Lähteenmäki, M., Miettinen, P. J., Laine, T., Wehkalampi, K., Kiiveri, S., Ahonen, P., Ojaniemi, M., Kaunisto, K., Tossavainen, P., Lapatto, R., Sarkola, T. & Pulkkinen, M.-A., 12 Mar 2021, In: Frontiers in Endocrinology. 12, 9 p., 639507.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
2020
Adrenal function after induction therapy for acute lymphoblastic leukemia in children short: adrenal function in ALL
Loimijoki, T., Lapatto, R. & Taskinen, M., Sept 2020, In: European journal of pediatrics. 179, 9, p. 1453-1459 7 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Ei-alkoholiperäinen rasvamaksatauti (NAFLD)
Yki-Järvinen, H., Arkkila, P., Eskelinen, S., Juuti, A., Lapatto, R., Lempiäinen, A., Mervaala, E., Schwab Nikkola, A. & Winterfeld, U., 2020, In: Duodecim. 136, 4, p. 403-405 3 p.Research output: Contribution to journal › Article › Professional
Open AccessFile -
Pikkupoika lakkasi kävelemästä
Lapatto, R., 2020, In: Suomen lääkärilehti. 75, 21, p. 1312, 1316 2 p.Research output: Contribution to journal › Article › Professional
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2019
Aineenvaihduntasairauksien ruokavaliohoito ja suunterveys
Rönty, L., Alapulli, H., Tuokkola, J. & Lapatto, R., 2019, In: Suomen hammaslääkärilehti. 26, 3, p. 22-26 5 p.Research output: Contribution to journal › Article › Professional
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Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients
Williams, M., Valayannopoulos, V., Altassan, R., Chung, W. K., Heijboer, A. C., Keng, W. T., Lapatto, R., McClean, P., Mulder, M. F., Tylki-Szymanska, A., Walenkamp, M.-J. E., Alfadhel, M., Alakeel, H., Salomons, G. S., Eyaid, W. & Wamelink, M. M. C., Jan 2019, In: Journal of Inherited Metabolic Disease. 42, 1, p. 147-158 12 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Neonatal screening av metabola sjukdomar
Lapatto, R., 2019, In: Finska Läkaresällskapets Handlingar. 179, 1, p. 40-45 6 p.Research output: Contribution to journal › Article › Professional
Open AccessFile -
2018
Lysinuurinen proteiini-intoleranssi ja muut perinnölliset hyperammonemiat
Lapatto, R., 2018, In: Erikoislääkäri. 28, 4, p. 156-159 4 p.Research output: Contribution to journal › Article › Professional
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2017
Stress-Dose Corticosteroid Versus Placebo in Neonatal Cardiac Operations: A Randomized Controlled Trial
Suominen, P. K., Keski-Nisula, J., Ojala, T., Rautiainen, P., Jahnukainen, T., Hastbacka, J., Neuvonen, P. J., Pitkanen, O., Niemela, J., Kaskinen, A., Salminen, J. & Lapatto, R., Oct 2017, In: Annals of Thoracic Surgery. 104, 4, p. 1378-1385 8 p.Research output: Contribution to journal › Article › Scientific › peer-review
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2016
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Immonen, T., Turanlahti, M., Paganus, A., Keskinen, P., Tyni, T. & Lapatto, R., 2016, In: Acta Paediatrica. 105, 5, p. 549-554 6 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study
Gaily, E., Lommi, M., Lapatto, R. & Lehesjoki, A.-E., Oct 2016, In: Epilepsia. 57, 10, p. 1594-1601 8 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients
Immonen, T., Ahola, E., Toppila, J., Lapatto, R., Tyni, T. & Lauronen, L., Jan 2016, In: European Journal of Paediatric Neurology. 20, 1, p. 38-44 7 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Seulomalla vauvat ajoissa hoitoon
Lapatto, R., 2016, In: Sic! Lääketietoa Fimeasta. 6, 4, p. 37-38 2 p.Research output: Contribution to journal › Article › Professional
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2015
LMNA Mutation c.917T > G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging
Alastalo, T.-P., West, G., Li, S.-P., Keinanen, A., Helenius, M., Tyni, T., Lapatto, R., Turanlahti, M., Heikkila, P., Kääriäinen, H., Laakso, M., Mauermann, M., Herrmann, H., Pihkala, J. & Taimen, P., Jul 2015, In: Human mutation. 36, 7, p. 694-703 10 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Vastasyntyneen aineenvaihduntasairauksien seulonta
Lapatto, R., 2015, In: Moodi. 39, 2, p. 62-63 2 p.Research output: Contribution to journal › Article › Professional
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2013
Suomen vastasyntyneille kuuluu oikeus aineenvaihduntasairauksien seulontaan
Lapatto, R., 2013, In: Suomen lääkärilehti. 68, 17, p. 1235 1 p.Research output: Contribution to journal › Article › Professional
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2012
Patients with organic acidaemias have an altered thiol status
Salmi, H., Leonard, J. V. & Lapatto, R., 1 Nov 2012, In: Acta Paediatrica. 101, 11, p. e505-e508 4 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Plasma thiol status is altered in children with mitochondrial diseases
Salmi, H., Leonard, J. V., Rahman, S. & Lapatto, R., 2012, In: Scandinavian Journal of Clinical & Laboratory Investigation. 72, 2, p. 152-157 6 p.Research output: Contribution to journal › Article › Scientific › peer-review
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2011
Change in plasma and erythrocyte thiol levels in children undergoing fasting studies for investigation of hypoglycaemia
Salmi, H., Hussain, K. & Lapatto, R. J., 2011, In: Pediatric Endocrinology, Diabetes and, Metabolism. 17, 1, p. 14-19 6 p.Research output: Contribution to journal › Article › Scientific
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GnRH-Deficient Phenotypes in Humans and Mice with Heterozygous Variants in KISS1/Kiss1
Chan, Y.-M., Broder-Fingert, S., Paraschos, S., Lapatto, R., Au, M., Hughes, V., Bianco, S. D. C., Min, L., Plummer, L., Cerrato, F., De Guillebon, A., Wu, I.-H., Wahab, F., Dwyer, A., Kirsch, S., Quinton, R., Cheetham, T., Ozata, M., Ten, S. & Chanoine, J.-P. & 8 others, , 2011, In: Journal of Clinical Endocrinology and Metabolism. 96, 11, p. E1771-E1781 11 p.Research output: Contribution to journal › Article › Scientific › peer-review
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2010
Cow's milk allergy is associated with changes in urinary organic acid concentrations
Salmi, H., Kuitunen, M., Viljanen, M. & Lapatto, R., Mar 2010, In: Pediatric Allergy and Immunology. 21, 2, p. E401-E406 6 p.Research output: Contribution to journal › Article › Scientific › peer-review
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2009
European Multicentre Study in Children Born Small for Gestational Age with Persistent Short Stature: Comparison of Continuous and Discontinuous Growth Hormone Treatment Regimens
Phillip, M., Lebenthal, Y., Lebl, J., Zuckerman-Levin, N., Korpal-Szczyrska, M., Marques, J. S., Steensberg, A., Jons, K., Kappelgaard, A.-M., Ibanez, L., European Norditropin SGA Study Grp, Lipsanen-Nyman, M., Dunkel, L., Sipilä, I., Otonkoski, T. & Lapatto, R., 2009, In: Hormone Research. 71, 1, p. 52-59 8 p.Research output: Contribution to journal › Article › Scientific › peer-review
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2005
Expanding screening for rare metabolic disease in the newborn: An analysis of costs, effect and ethical consequences for decision-making in Finland
Autti-Rämö, I., Mäkelä, M., Sintonen, H., Koskinen, H., Laajalahti, L., Halila, R., Kääriäinen, H., Lapatto, R., Näntö-Salonen, K., Pulkki, K., Renlund, M., Salo, M. & Tyni, T., 2005, In: Acta Paediatrica. 94, 8, p. 1126-1136 11 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Kidneys with heavy proteinuria show fibrosis, inflammation, and oxidative stress, but no tubular phenotypic change
Kuusniemi, A.-M., Lapatto, R., Holmberg, C., Karikoski, R., Rapola, J. & Jalanko, H., 2005, In: Kidney International. 68, p. 121-132 12 p.Research output: Contribution to journal › Article › Scientific › peer-review
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2004
Glutathione depletion and cardiomyocyte apoptosis in viral myocarditis
Kyto, V., Lapatto, R., Lakkisto, P., Saraste, A., Voipio-Pulkki, L. M., Vuorinen, T. & Pulkki, K., 2004, In: European Journal of Clinical Investigation. 34, p. 167-175 9 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Plasma 8-isoprostane is increased in preterm infants who develop bronchopulmonary dysplasia or periventricular leukomalacia
Ahola, T., Fellman, V., Kjellmer, I., Raivio, K. & Lapatto, R., Jul 2004, In: Pediatric Research. 56, 1, p. 88-93 6 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Thiol metabolism in preterm infants during the first week of life
Ahola, T., Levonen, A., Fellman, V. & Lapatto, R., Oct 2004, In: Scandinavian Journal of Clinical & Laboratory Investigation. 64, 7, p. 649-658 10 p.Research output: Contribution to journal › Article › Scientific › peer-review
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2003
Entacapone protects from angiotensin II-induced inflammation and renal injury
Helkamaa, T., Finckenberg, P., Louhelainen, M., Merasto, S., Rauhala, P., Lapatto, R., Cheng, Z. J., Reenila, I., Mannisto, P., Muller, D. N., Luft, F. C. & Mervaala, E. M. A., 2003, In: Journal of Hypertension. 21, p. 2353-2363 11 p.Research output: Contribution to journal › Article › Scientific › peer-review
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N-acetylcysteine does not prevent bronchopulmonary dysplasia in immature infants: A randomized controlled trial
Ahola, T., Lapatto, R., Raivio, K., Selander, B., Stigson, L., Jonsson, B., Jonsbo, F., Esberg, G., Stovring, S., Kjartansson, S., Stiris, T., Lossius, K., Virkola, K. & Fellman, V., Dec 2003, In: The Journal of Pediatrics. 143, 6, p. 713-719 7 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release
Otonkoski, T., Kaminen, N., Ustinov, J., Lapatto, R., Meissner, T., Mayatepek, E., Kere, J. & Sipila, I., 2003, In: Diabetes. 2003, 52, p. 199-204 6 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Posttranslational inactivation of human xanthine oxidoreductase by oxygen under standard cell culture conditions
Linder, N., Martelin, E., Lapatto, R. & Raivio, K. O., 2003, In: American Journal of Physiology: Cell Physiology. 285, p. C48-C55 8 p.Research output: Contribution to journal › Article › Scientific › peer-review
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1999
Pharmacokinetics of intravenous N-acetylcysteine in pre-term new-born infants
Ahola, T., Fellman, V., Laaksonen, R., Laitila, J., Lapatto, R., Neuvonen, P. & Raivio, K., Nov 1999, In: European Journal of Clinical Pharmacology. 55, 9, p. 645-650 6 p.Research output: Contribution to journal › Article › Scientific › peer-review
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1998
Circulating xanthine oxidase and neutrophil activation during human liver transplantation
Pesonen, E. J., Linder, N., Raivio, K. O., Sarnesto, A., Lapatto, R., Hockerstedt, K., Makisalo, H. & Andersson, S., 1998, In: Gastroenterology. 114, p. 1009-1015 7 p.Research output: Contribution to journal › Article › Scientific › peer-review