المؤلفون: Mlinaric, M, Bonham, JR, Kožich, V, Kölker, S, Majek, O, Battelino, T, Torkar, AD, Koracin, V, Perko, D, Remec, ZI, Lampret, BR, Scarpa, M, Schielen, PCJI, Zetterström, RH, Groselj, U

المصدر: International journal of neonatal screening. 9(2)

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:237092515Test

المؤلفون: Sikonja, J, Groselj, U, Scarpa, M, la Marca, G, Cheillan, D, Kölker, S, Zetterström, RH, Kožich, V, Le Cam, Y, Gumus, G, Bottarelli, V, van der Burg, M, Dekkers, E, Battelino, T, Prevot, J, Schielen, PCJI, Bonham, JR

المصدر: International journal of neonatal screening. 8(2)

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:235645285Test

المؤلفون: Mütze, U., Gleich, F., Garbade, S.F., Plisson, C., Aldámiz-Echevarría, L., Arrieta, F., Ballhausen, D., Zielonka, M., Petković Ramadža, D., Baumgartner, M.R., Cano, A., García Jiménez, M.C., Dionisi-Vici, C., Ješina, P., Blom, H.J., Couce, M.L., Meavilla Olivas, S., Mention, K., Mochel, F., Morris, AAM, Mundy, H., Redonnet-Vernhet, I., Santra, S., Schiff, M., Servais, A., Vitoria, I., Huemer, M., Kožich, V., Kölker, S.

المصدر: Journal of inherited metabolic disease, vol. 45, no. 4, pp. 719-733

مصطلحات موضوعية: Betaine/adverse effects, Cystathionine beta-Synthase, Homocysteine, Homocystinuria/drug therapy, Humans, Methylenetetrahydrofolate Reductase (NADPH2)/deficiency, Methylenetetrahydrofolate Reductase (NADPH2)/genetics, Muscle Spasticity, Psychotic Disorders, E-HOD, betaine anhydrous, homocystinuria, orphan drug, postauthorization safety study, public private partnership, rare disease

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35358327; info:eu-repo/semantics/altIdentifier/eissn/1573-2665; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5D5BE243D67D6; https://serval.unil.ch/notice/serval:BIB_5D5BE243D67DTest; urn:issn:0141-8955; https://serval.unil.ch/resource/serval:BIB_5D5BE243D67D.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5D5BE243D67D6Test

الإتاحة: https://doi.org/10.1002/jimd.12499Test
https://serval.unil.ch/notice/serval:BIB_5D5BE243D67DTest
https://serval.unil.ch/resource/serval:BIB_5D5BE243D67D.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5D5BE243D67D6Test

المؤلفون: Brennenstuhl H., Nashawi M., Schroter J., Baronio F., Beedgen L., Gleich F., Jeltsch K., von Landenberg C., Martini S., Simon A., Thiel C., Tsiakas K., Opladen T., Kolker S., Hoffmann G. F., Haas D., Garcia-Cazorla A., Dionisi-Vici C., Martinelli D., Kozich V., Scarpa M.

المساهمون: Brennenstuhl H., Nashawi M., Schroter J., Baronio F., Beedgen L., Gleich F., Jeltsch K., von Landenberg C., Martini S., Simon A., Thiel C., Tsiakas K., Opladen T., Kolker S., Hoffmann G.F., Haas D., Garcia-Cazorla A., Dionisi-Vici C., Martinelli D., Kozich V., Scarpa M.

مصطلحات موضوعية: genotypic spectrum, HIDS, mevalonate, mevalonate kinase deficiency, mevalonic aciduria, phenotypic spectrum

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34145613; info:eu-repo/semantics/altIdentifier/wos/WOS:000667246700001; volume:44; issue:5; firstpage:1272; lastpage:1287; numberofpages:16; journal:JOURNAL OF INHERITED METABOLIC DISEASE; https://hdl.handle.net/11585/840819Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114693375

الإتاحة: https://doi.org/10.1002/jimd.12412Test
https://hdl.handle.net/11585/840819Test

المؤلفون: Heard JM, Vrinten C, Schlander M, Bellettato CM, van Lingen C, Scarpa M, Matthijs G, Nassogne MC, Debray FG, Roland D, Chamova T, Kozich V, Pavel J, Zenker M, Lampe C, Das AM, Hennermann J, Kölker S, Weinhold N, Mohnike K, Gruenert S, Lund AM, Morales-Conejo M, Del Toro-Riera M, Aldámiz-Echevarría L, Garcia-Silva MT, Schiff M, Gouya L, de Lonlay P, Belmatoug N, Germain DP, Cano A, Dobbelaere D, Jones S, Dawson C, Deegan P, Santra S, Vijay S, Petkovic Ramadza D, Barić I, Žigman T, Pflieger G, Szakszon K, Kaposta R, Gasperini S, Burlina A, Parenti G, Strisciuglio P, Ceccarini G, Federico A, Simonati A, Tumiene B, Huidekoper H, van Spronsen F, Bosch A, Rubio-Gozalbo ME, Visser G, Tangeraas T, Aarsand A, Kieć-Wilk B, Mendes Gaspar AS, Quelhas D, Leao-Teles E, Azevedo O, Rodriges Silva EF, de Abreu Freire Diogo Matos LM, Martins E, Lajic S, Darin N, Groselj U, Tansek MZ.

المساهمون: Heard, Jm, Vrinten, C, Schlander, M, Bellettato, Cm, van Lingen, C, Scarpa, M, Matthijs, G, Nassogne, Mc, Debray, Fg, Roland, D, Chamova, T, Kozich, V, Pavel, J, Zenker, M, Lampe, C, Das, Am, Hennermann, J, Kölker, S, Weinhold, N, Mohnike, K, Gruenert, S, Lund, Am, Morales-Conejo, M, Del Toro-Riera, M, Aldámiz-Echevarría, L, Garcia-Silva, Mt, Schiff, M, Gouya, L, de Lonlay, P, Belmatoug, N, Germain, Dp, Cano, A, Dobbelaere, D, Jones, S, Dawson, C, Deegan, P, Santra, S, Vijay, S, Petkovic Ramadza, D, Barić, I, Žigman, T, Pflieger, G, Szakszon, K, Kaposta, R, Gasperini, S, Burlina, A, Parenti, G, Strisciuglio, P, Ceccarini, G, Federico, A, Simonati, A, Tumiene, B, Huidekoper, H, van Spronsen, F, Bosch, A, Rubio-Gozalbo, Me, Visser, G, Tangeraas, T, Aarsand, A, Kieć-Wilk, B, Mendes Gaspar, A, Quelhas, D, Leao-Teles, E, Azevedo, O, Rodriges Silva, Ef, de Abreu Freire Diogo Matos, Lm, Martins, E, Lajic, S, Darin, N, Groselj, U, Tansek, Mz.

مصطلحات موضوعية: Access to treatment, European Reference Network, Hereditary Metabolic Diseases, Inborn errors of metabolism, Orphan medicinal product

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31907071; info:eu-repo/semantics/altIdentifier/wos/WOS:000513719400001; volume:15; numberofpages:10; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11568/1022303Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077535952; https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1280-5Test

الإتاحة: https://doi.org/10.1186/s13023-019-1280-5Test
https://hdl.handle.net/11568/1022303Test

المؤلفون: Loeber, J. G., Platis, D., Zetterström, R. H., Almashanu, S., Boemer, F., Bonham, J. R., Borde, P., Brincat, I., Cheillan, D., Dekkers, E., Dimitrov, D., Fingerhut, R., Franzson, L., Groselj, U., Hougaard, D., Knapková, M., Kocova, M., Kotori, V., Kozich, V., Kremezna, A., Kurkijärvi, R., La Marca, G., Mikelsaar, R., Milenkovic, T., Mitkin, V., Moldovanu, F., Ceglarek, U., O'Grady, L., Oltarzewski, M., Pettersen, R. D., Ramadza, D., Salimbayeva, D., Samardzic, M., Shamsiddinova, M., Songailiene, J., Szatmari, I., Tabatadze, N., Tezel, B., Toromanovic, A., Tovmasyan, I., Usurelu, N., Vevere, P., Vilarinho, L., Vogazianos, M., Yahyaoui, R., Zeyda, M., Schielen, Pcji

المساهمون: International Society for Neonatal Screening Office Bilthoven, The Netherlands (ISNSO), Institute of Child Health Athens, Greece, Karolinska University Hospital Solna, Sweden (KUH), Newborn Screening Laboratories Ramat Gan, Israel (NSL), Centre Hospitalier Universitaire Sart Tilman (CHU Sart Tilman), Université de Liège-Centre Hospitalier Universitaire de Liège (CHU-Liège), Sheffield Children's NHS Foundation Trust, Laboratoire National de Santé Luxembourg (LNS), Mater Dei Hospital Malta, Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), National Institute for Public Health and the Environment Bilthoven (RIVM), Hospital Maichin Dom Sofia, Bulgaria, University Children’s Hospital Zurich, Landspitali National University Hospital of Iceland, University Medical Centre Ljubljana Ljubljana, Slovenia (UMCL), Statens Serum Institut Copenhagen, Matej Bel University (UMB), Children's University Hospital Banska Bystrica, Slovakia (CUH-BB), Faculté de Skopje, University of Pristina-Kosovo, 1. lékařská fakulta, Univerzita Karlova Praha, Česká republika = First Faculty of Medicine, Charles University Prague, Czech Republic (1. LF UK / 1st Faculty of Medicine), Univerzita Karlova Praha, Česká republika = Charles University Prague, Czech Republic (UK), Clinical and Diagnostic Center "Pharmbiotest" Rubizhne, Ukraine (CDCP), Turku University Hospital (TYKS), Meyer Children's Hospital Florence, Italie, University of Tartu, Mother and Child Health Care Institute of Serbia Belgrade, Serbia (MCHCI), Neonatal Screening Center Moscow, Russia (NSC), National Institute for Mother & Child Health Bucharest, Romania (NIMCH), University Hospital Leipzig = Universitätsklinikum Leipzig, Newborn Blood Spot Screening Laboratory Dublin , Ireland (NBSSL), National Research Institute of Mother and Child Warsaw, Poland, Oslo University Hospital Oslo, University Hospital Centre Zagreb, Partenaires INRAE, Scientific centre of Gynaecology, Obstetrics and Perinatology Almaty, Kazakhstan (SGOP), International Science and Technology Center Almaty, Kazakhstan ( ISTC), Institute for Sick Children Podgorica, Montenegro (ISC), Republican Center Mother and Child Screening Tashkent, Uzbekistan (RCMCS), Vilnius University Vilnius, Children's Clinic Budapest, Hungary (CC), NeugoGenetic and Metabolic Center Tbilisi, Georgia (NGMC), Child and Adolescent Health Department Ankara, Turkey (CAHD), Univerzitet u Tuzli Tuzla, Bosnie-Herzégovine, Arbes Health Care Centre Yerevan, Armenia (AHCC), National Centre for Public Health Chisinau, Republic of Moldova, Children's Clinical University Hospital Riga, Latvia (CCUH), Instituto Nacional de Saùde Dr Ricardo Jorge Portugal (INSA), Limassol General Hospital, Instituto de Investigación Biomédica de Málaga y Plataforma en Nanomedicina = Biomedical Research Institute of Málaga and Nanomedicine Platform (IBIMA Plataforma BIONAND ), Medizinische Universität Wien = Medical University of Vienna

المصدر: ISSN: 2409-515X ; International Journal of Neonatal Screening ; https://inserm.hal.science/inserm-03337431Test ; International Journal of Neonatal Screening, 2021, 7 (1), pp.15. ⟨10.3390/ijns7010015⟩.

مصطلحات موضوعية: congenital endocrine disorders, congenital metabolic disorders, dried blood spot screening, International Society for Neonatal Screening, Isns, neonatal screening, newborn screening, public health, rare diseases, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33808002; inserm-03337431; https://inserm.hal.science/inserm-03337431Test; https://inserm.hal.science/inserm-03337431/documentTest; https://inserm.hal.science/inserm-03337431/file/IJNS-07-00015-v3.pdfTest; PUBMED: 33808002; PUBMEDCENTRAL: PMC8006225

الإتاحة: https://doi.org/10.3390/ijns7010015Test
https://inserm.hal.science/inserm-03337431Test
https://inserm.hal.science/inserm-03337431/documentTest
https://inserm.hal.science/inserm-03337431/file/IJNS-07-00015-v3.pdfTest

المؤلفون: Morrison, T., Bösch, F., Landolt, M. A., Kožich, V., Huemer, M., Morris, A. A. M.

المساهمون: Nutricia Metabolics, Czech Health Research Council, General University Hospital in Prague

المصدر: Orphanet Journal of Rare Diseases ; volume 16, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-021-01764-xTest

المؤلفون: Heard, J. M., Bellettato, C., Lingen, C., Scarpa, M., Debray, F. G., Nassogne, M. C., van Coster, R., De Meirleir, L., Eyskens, F., Morava, E., Baric, I., Kozich, V., Lund, A. M., Germain, D., Belmatoug, N., Guffon, N., Labrune, P., Gouya, L., De Lonlay, P., Schiff, M., Dobbelaere, D., Chabrol, B., Ploeckinger, U., Das, A. M., Spiekerkoetter, U., Rutsch, F., Mohnike, K., Hahn, A., Kolker, S., Ullrich, K., Hennermann, J., Balogh, I., Bembi, B., Donati, M. A., Gasperini, S., Parenti, G., Salviati, A., Vici, C. D., Di Rocco, M., Cefalo, G., Burlina, A., Ceccarini, G., Federico, A., Van der Ploeg, A., Rubio-Gozalbo, M. E., Van Spronsen, F., Visser, G., Bosch, A., Tangeraas, T., Sanderberg, S., Kiec-Wilk, B., Gaspar, Amsm, Martins, E., Silva, Emfr, Matos, Lmdfd, Azevedo, O., Tansek, M. Z., Couce Pico, María Luz, Cazorla, A. G., Azuara, L. A. E., Del Toro-Riera, M., Silva, M. T. G., Lajic, S., Darin, N., Deegan, P., Vijay, S., Chronopolou, E., Jones, S., Chakrapani, A., Hiwot, T.

المساهمون: Metab E. R. N. Collaboration Group

مصطلحات موضوعية: Humans, Quality of Life, humanos, calidad de vida, CHUS

العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542047/pdf/13023_2019_Article_1091.pdfTest; https://www.ncbi.nlm.nih.gov/pubmed/31142374Test; http://hdl.handle.net/20.500.11940/15651Test; 31264

الإتاحة: https://doi.org/20.500.11940/15651Test
https://doi.org/10.1186/s13023-019-1091-8Test
https://hdl.handle.net/20.500.11940/15651Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542047/pdf/13023_2019_Article_1091.pdfTest
https://www.ncbi.nlm.nih.gov/pubmed/31142374Test

المؤلفون: Pravenec, M, Leung, K-Y, Zidek, V, Mlejnek, P, Simakova, M, Silhavy, J, Kozich, V, Greene, NDE

المصدر: Physiological Research , 67 (3) pp. 417-422. (2018)

مصطلحات موضوعية: Spontaneously hypertensive rat, Folate deficiency, Folate profiling, Folate glutamylation, Hepatic steatosis

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10058305/1/Greene_manuscript%209.combined.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10058305Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10058305/1/Greene_manuscript%209.combined.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10058305Test/

المؤلفون: Ye. Santotsky O., A. Minov F., D. Yurlevich I., L. Kirkovsky V., S. Korotkov V., D. Kharkov P., L. Bolonkin S., Yu. Slobodin V., Ye. Avdei L., A. Fedoruk M., A. Dzyadzko M., A. Shcherba Ye., O. Rummo O., I. Kulinkovich L., P. Kozich V., Е. Сантоцкий О., А. Минов Ф., Д. Юрлевич И., Л. Кирковский В., С. Коротков В., Д. Харьков П., Л. Болонкин С., Ю. Слободин В., Е. Авдей Л., А. Федорук М., А. Дзядзько М., А. Щерба Е., О. Руммо О., И. Кулинкович Л., П. Козич В.

المصدر: Transplantologiya. The Russian Journal of Transplantation; № 1 (2009); 43-45 ; Трансплантология; № 1 (2009); 43-45 ; 2542-0909 ; 2074-0506 ; 10.23873/2074-0506-2009-0-1

مصطلحات موضوعية: liver transplantation, inferior vena cava obstruction, postoperative complications, acute renal failure, трансплантация печени, окклюзия нижней полой вены, послеоперационные осложнения, острая почечная недостаточность

وصف الملف: application/pdf

العلاقة: https://www.jtransplantologiya.ru/jour/article/view/239/301Test; Bussuttil R.W., Klintmalm G.B. Transplantation of the liver. 2nd ed. Elsevier Saunders, 2005. p. 576.; Rimola A., Gavaler J.S., Schade R.R. et al. Effects of renal impairment on liver transplantation. Gastroenterology 1987;93:148.; Shaw B.W., Martin D.J., Marques J.M. et al. Venous bypass in clinical liver transplantation. Ann Surg 1984;200:524—34.; McCauley J., Van Thiel D.H., Starzl T.E. et al. Acute and chronic renal failure in liver transplantation. Nephron 1990;55—121.; Pawarode A., Fine D.M., Thuluvath P.J. Independent risk factors and natural history of renal dysfunction in liver transplant recipients. Liver transplant 2003;9:741—7.; Bussuttil R.W., Klintmalm G.B. Transplantation of the liver. 2nd ed. Elsevier Saunders, 2005. p. 903.; Veroli P., Hage C., Ecoffrey C. Does adult liver transplantation without venovenous bypass result in renal failure? Anesthesia and Analgesia 1992;75:489—94.; Lima E.Q., Zanetta D.M., Castro I. et al. Risk factors for development of acute renal failure after liver transplantation. Renal Failure 2003;25:553—60.; https://www.jtransplantologiya.ru/jour/article/view/239Test

الإتاحة: https://doi.org/10.23873/2074-0506-2009-0-1-43-45Test
https://doi.org/10.23873/2074-0506-2009-0-1Test
https://www.jtransplantologiya.ru/jour/article/view/239Test