Mutations in Genes Encoding Subunits of the RNA Exosome as a Potential Novel Cause of Thrombotic Microangiopathy.

Authors: Wijnsma, Kioa L.¹ (AUTHOR) kioa.wijnsma@radboudumc.nl, Schijvens, Anne M.¹ (AUTHOR) bert.vandenheuvel@radboudumc.nl, Bouwmeester, Romy N.¹ (AUTHOR) nicole.vandekar@radboudumc.nl, Aarts, Lonneke A. M.² (AUTHOR) lonneke.aarts@radboudumc.nl, van den Heuvel, Lambertus P.¹ (AUTHOR), Haaxma, Charlotte A.³ (AUTHOR) charlotte.haaxma@radboudumc.nl, van de Kar, Nicole C. A. J.¹ (AUTHOR)

Source: International Journal of Molecular Sciences. Jul2024, Vol. 25 Issue 14, p7604. 8p.

Subject Terms: *EXOSOMES, *GENETIC mutation, *RNA, *BRAIN abnormalities, *BRUGADA syndrome

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

Authors: Drovandi, Stefania, Lipska-Ziętkiewicz, Beata S., Ozaltin, Fatih, Emma, Francesco, Gulhan, Bora, Boyer, Olivia, Trautmann, Agnes, Ziętkiewicz, Szymon, Xu, Hong, Shen, Qian, Rao, Jia, Riedhammer, Korbinian M., Heemann, Uwe, Hoefele, Julia, Stenton, Sarah L., Tsygin, Alexey N., Ng, Kar-Hui, Fomina, Svitlana, Benetti, Elisa, Aurelle, Manon, Prikhodina, Larisa, Schijvens, Anne M., Tabatabaeifar, Mansoureh, Jankowski, Maciej, Baiko, Sergey, Mao, Jianhua, Feng, Chunyue, Deng, Fang, Rousset-Rouviere, Caroline, Stańczyk, Małgorzata, Bałasz-Chmielewska, Irena, Fila, Marc, Durkan, Anne M., Levart, Tanja Kersnik, Dursun, Ismail, Esfandiar, Nasrin, Haas, Dorothea, Bjerre, Anna, Anarat, Ali, Benz, Marcus R., Talebi, Saeed, Hooman, Nakysa, Ariceta, Gema, Schaefer, Franz

Source: Kidney international. 102(3):592-603

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Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

Authors: Baiko, Sergey, Serna Higuita, Lina Maria, Schaefer, Franz, Trautmann, Agnes, Tabatabaeifar, Mansoureh, Gheissari, Alaleh, Hooman, Nakysa, Benetti, Elisa, Emma, Francesco, Nigmatullina, Nazym, Lipska-Ziętkiewicz, Beata S., Bałasz-Chmielewska, Irena, Tkaczyk, Marcin, Stańczyk, Małgorzata, Borzecka, Halina, Tsygin, Alexey N., Prikhodina, Larisa, Bogdanovic, Radovan, Anarat, Ali, Ozaltin, Fatih, Mir, Sevgi, Fomina, Svitlana, Klopstock, Thomas, Prokisch, Holger, Kornblum, Cornelia, Xu, Hong, Shen, Qian, Rao, Jia, Liu, Cui-Hua, Sun, Shu-Zhen, Deng, Fang, Dong, Yang, Wang, Xiao-Wen, Luan, Jiang-Wei, Drovandi, Stefania, Gulhan, Bora, Boyer, Olivia, Ziętkiewicz, Szymon, Riedhammer, Korbinian M., Heemann, Uwe, Hoefele, Julia, Stenton, Sarah L., Ng, Kar-Hui, Aurelle, Manon, Schijvens, Anne M., Jankowski, Maciej, Mao, Jianhua, Feng, Chunyue, Rousset-Rouviere, Caroline, Fila, Marc, Durkan, Anne M., Levart, Tanja Kersnik, Dursun, Ismail, Esfandiar, Nasrin, Haas, Dorothea, Bjerre, Anna, Benz, Marcus R., Talebi, Saeed, Ariceta, Gema

Source: In Kidney International September 2022 102(3):592-603

Therapeutic drug monitoring of mycophenolate mofetil in pediatric patients: novel techniques and current opinion

Authors: Ehren, Rasmus, Schijvens, Anne M., Hackl, Agnes, Schreuder, Michiel F., Weber, Lutz T.

Source: Expert opinion on drug metabolism and toxicology. 17(2):201-213

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100114477883.0x000001&indx=1&recIds=ETOCvdc_100114477883.0x000001

Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency

Authors: Schijvens, Anne M., van de Kar, Nicole C., Bootsma-Robroeks, Charlotte M., Cornelissen, Elisabeth A., van den Heuvel, Lambertus P., Schreuder, Michiel F.

Source: In Kidney International Reports December 2020 5(12):2146-2159

Pharmacokinetics in children with chronic kidney disease

Authors: Schijvens, Anne M., de Wildt, Saskia N., Schreuder, Michiel F.

Source: Pediatric nephrology. 35(7):1153-1172

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100167959915.0x000001&indx=1&recIds=ETOCvdc_100167959915.0x000001

Outcomes from the International Society of Nephrology Hemolytic Uremic Syndromes International Forum

Authors: Lungu, Adrian Catalin ²¹, Żurowska, Aleksandra ²², Gerogianni, Alexandra ^{23, 24}, Durkan, Anne ²⁵, Schijvens, Anne ²⁶, Lapeyraque, Anne-Laure ²⁷, Java, Anuja ²⁸, Awan, Atif ²⁹, Covella, Bianca ³⁰, Dixon, Bradley P. ³¹, El Sissy, Carine ³², Duinevel, Caroline ²⁶, Maville, Christine ³⁴, Turudic, Daniel ³⁵, Karpman, Diana ³⁷, Haffner, Dieter ³⁸, Trembecka-Dubel, Elżbieta ³⁹, Ozaltin, Fatih ⁴⁰, Emma, Francesco ⁴¹, Schaefer, Franz ⁴², Kang, Hee Gyung ⁴³, Trimarchi, Hernán ⁴⁴, Trujillo, Hernando ⁴⁵, Ulasi, Ifeoma ⁴⁶, Ekwueme, Alex ⁴⁷, Menne, Jan ⁴⁸, Laurence, Jeffrey ⁴⁹, Calado, Joaquim ^{50, 51}, Hofer, Johannes ⁵¹, Zuber, Julien ⁵², Oh, Jun ⁵³, Bakar, Karmila Abu ⁵⁴, Jackson, Kate Smith ⁵⁵, Milosevic, Danko ⁵⁷, Ariceta, Gema ⁶³, Claes, Kathleen J. ⁷⁷, Kaartinen, Kati ⁷⁸, Alhasan, Khalid ^{79, 80}, Wijnsma, Kioa ²⁶, van den Heuvel, L.P. ²⁶, Alconcher, Laura ⁸³, Izabel de Holanda, Maria ⁸⁴, Szczepańska, Maria ⁸⁵, Meuleman, Marie-Sophie ⁸⁶, Lemaire, Mathieu ⁸⁷, Harris, Meredith ⁸⁸, Michalopulos, Michael G. ⁸⁹, Malina, Michal ⁹⁰, Józsi, Mihály ⁹¹, Stajić, Nataša ⁹², Isbel, Nicole ⁹³, Walsh, Patrick ⁹⁴, Coccia, Paula A. ⁹⁵, Ramachandran, Raja ⁹⁶, Topaloglu, Rezan ⁹⁷, Timmermans, Sjoerd A.M.E.G. ⁹⁸, Chauvet, Sophie ⁹⁹, Levart, Tanja Kersnik ¹⁰⁰, Seeman, Tomas ¹⁰¹, Tasic, Velibor ¹⁰², Tesař, Vladimír ¹⁰³, Song, Wen-Chao ¹⁰⁴, Zhang, Yuzhou ¹⁰⁵, Prohászka, Zoltán ¹⁰⁶, Kavanagh, David ^{1, 2, ∗}, Ardissino, Gianluigi ³, Brocklebank, Vicky ^{1, 2}, Bouwmeester, Romy N. ⁴, Bagga, Arvind ⁵, ter Heine, Rob ⁶, Johnson, Sally ^{1, 7}, Licht, Christoph ⁸, Ma, Alison L.T. ^{9, 10}, Noris, Marina ¹¹, Praga, Manuel ^{12, 13}, Rondeau, Eric ¹⁴, Sinha, Aditi ⁵, Smith, Richard J.H. ¹⁵, Sheerin, Neil S. ^{1, 2}, Trimarchi, H. ¹⁶, Wetzels, Jack F.M. ¹⁷, Vivarelli, Marina ¹⁸, Van de Kar, Nicole C.A.J. ⁴, Greenbaum, Larry A. ^{19, ∗}

Source: In Kidney International December 2024 106(6):1038-1050

Low Bioavailability of Oral Tacrolimus Suspension in Pediatric Kidney Transplant Patients

Authors: Schijvens, Anne M., de Wildt, Saskia N., Cornelissen, Elisabeth A. M., van Hesteren, Fransje H. S., Schreuder, Michiel F., ter Heine, Rob

Source: Clinical pharmacokinetics. 59(11):1483-1485

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100186553715.0x000001&indx=1&recIds=ETOCvdc_100186553715.0x000001

Pharmacology and pharmacogenetics of prednisone and prednisolone in patients with nephrotic syndrome

Authors: Schijvens, Anne M., ter Heine, Rob, de Wildt, Saskia N., Schreuder, Michiel F.

Source: Pediatric nephrology. 34(3):389-403

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125313660.0x000001&indx=1&recIds=ETOCvdc_100125313660.0x000001

The potential impact of hematocrit correction on evaluation of tacrolimus target exposure in pediatric kidney transplant patients

Authors: Schijvens, Anne M., van Hesteren, Fransje H. S., Cornelissen, Elisabeth A. M., Bootsma-Robroeks, Charlotte M. H. H. T., Brüggemann, Roger J. M., Burger, David M., de Wildt, Saskia N., Schreuder, Michiel F., ter Heine, Rob

Source: Pediatric nephrology. 34(3):507-515

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125313612.0x000001&indx=1&recIds=ETOCvdc_100125313612.0x000001

Steroid treatment for the first episode of childhood nephrotic syndrome: comparison of the 8 and 12 weeks regimen using an individual patient data meta-analysis.

Authors: Schijvens, Anne M.¹ (AUTHOR) anne.schijvens@radboudumc.nl, Teeninga, Nynke¹ (AUTHOR), Dorresteijn, Eiske M.² (AUTHOR), Teerenstra, Steven³ (AUTHOR), Webb, Nicholas J.^4,5 (AUTHOR), Schreuder, Michiel F.¹ (AUTHOR)

Source: European Journal of Pediatrics. Sep2021, Vol. 180 Issue 9, p2849-2859. 11p. 1 Diagram, 5 Charts, 2 Graphs.

Subject Terms: *NEPHROTIC syndrome, *PEDIATRIC nephrology, *STEROIDS, *RANDOMIZED controlled trials, *CRIME & the press

Geographic Terms: EUROPE

Practice variations in the management of childhood nephrotic syndrome in the Netherlands.

Authors: Schijvens, Anne M.¹ (AUTHOR) anne.schijvens@radboudumc.nl, van der Weerd, Lucie¹ (AUTHOR), van Wijk, Joanna A. E.² (AUTHOR), Bouts, Antonia H. M.³ (AUTHOR), Keijzer-Veen, Mandy G.⁴ (AUTHOR), Dorresteijn, Eiske M.⁵ (AUTHOR), Schreuder, Michiel F.¹ (AUTHOR)

Source: European Journal of Pediatrics. Jun2021, Vol. 180 Issue 6, p1885-1894. 10p. 2 Charts, 3 Graphs.

Subject Terms: *NEPHROTIC syndrome, *RENAL biopsy, *PEDIATRIC nephrology, *NEPHROLOGISTS, *PHYSICIANS, *FOCAL segmental glomerulosclerosis

Geographic Terms: NETHERLANDS

Denk aan nefrotisch syndroom bij kind met atopie en dikke ogen

Authors: Schijvens, Anne, Dorresteijn, Eiske, van Hest, Marcel

Source: Huisarts en wetenschap. 60(7):370-372

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN611893360&indx=1&recIds=ETOCRN611893360

The potential impact of hematocrit correction on evaluation of tacrolimus target exposure in pediatric kidney transplant patients.

Authors: Schijvens, Anne M.¹, van Hesteren, Fransje H. S.¹, Cornelissen, Elisabeth A. M.¹, Bootsma-Robroeks, Charlotte M. H. H. T.¹, Schreuder, Michiel F.¹, Brüggemann, Roger J. M.², Burger, David M.², ter Heine, Rob², de Wildt, Saskia N.^3,4

Source: Pediatric Nephrology. Mar2019, Vol. 34 Issue 3, p507-515. 9p. 4 Charts, 2 Graphs.

Subject Terms: *TACROLIMUS, *DRUG monitoring, *HEMATOCRIT, *KIDNEY transplantation, *PEDIATRICS, *REFERENCE values, *THERAPEUTICS

Pharmacology and pharmacogenetics of prednisone and prednisolone in patients with nephrotic syndrome.

Authors: Schijvens, Anne M.¹, Schreuder, Michiel F.¹, ter Heine, Rob², de Wildt, Saskia N.^3,4

Source: Pediatric Nephrology. Mar2019, Vol. 34 Issue 3, p389-403. 15p. 3 Diagrams, 2 Charts.

Subject Terms: *DRUG toxicity, *GENETIC polymorphisms, *KIDNEYS, *MEDICAL practice, *NEPHROTIC syndrome, *PHARMACOGENOMICS, *PREDNISONE, *STEROIDS, *DISEASE remission, *PHARMACODYNAMICS, *PREDNISOLONE, *THERAPEUTICS, THERAPEUTIC use of glucocorticoids

Unusual severe case of hemolytic uremic syndrome due to Shiga toxin 2d-producing E. coli O80:H2.

Authors: Wijnsma, Kioa¹ kioa.wijnsma@radboudumc.nl, Schijvens, Anne¹, Rossen, John², Kooistra-Smid, A.³, Schreuder, Michiel¹, Kar, Nicole¹

Source: Pediatric Nephrology. Jul2017, Vol. 32 Issue 7, p1263-1268. 6p.

Subject Terms: *HEMOLYTIC-uremic syndrome diagnosis, *CENTRAL nervous system, *ESCHERICHIA coli, *HEMOLYTIC-uremic syndrome, *MULTIPLE organ failure, *THROMBOCYTOPENIA, *TOXINS, *SEVERITY of illness index

Need for uniform definitions in childhood nephrotic syndrome.

Authors: Schijvens, Anne M¹ (AUTHOR) Anne.Schijvens@radboudumc.nl, Sinha, Aditi² (AUTHOR), Bagga, Arvind² (AUTHOR), Schreuder, Michiel F¹ (AUTHOR)

Source: Nephrology Dialysis Transplantation. May2021, Vol. 36 Issue 5, p941-945. 5p.

Subject Terms: *NEPHROTIC syndrome, *ACUTE kidney failure, *MEDICAL research, *CHRONIC kidney failure, *FOCAL segmental glomerulosclerosis

The quest for optimal control of relapses in children with nephrotic syndrome

Authors: Schijvens, Anne M., Ehren, Rasmus, Weber, Lutz T., Schreuder, Michiel F.

Source: Kidney international. 95(3):717-717

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100081215747.0x000001&indx=1&recIds=ETOCvdc_100081215747.0x000001

Outcomes from the International Society of Nephrology Hemolytic Uremic Syndromes International Forum

Authors: Kavanagh, D., Ardissino, G., Brocklebank, V., Bouwmeester, R.N., Bagga, A., ter Heine, R., Johnson, S., Licht, C., Ma, A.L.T., Noris, M., Praga, M., Rondeau, E., Sinha, A., Smith, R.J.H., Sheerin, N.S., Trimarchi, H., Wetzels, J.F.M., Vivarelli, M., Van de Kar, N.C.A.J., Greenbaum, L.A., Lungu, Adrian Catalin, Żurowska, Aleksandra, Gerogianni, Alexandra, Durkan, Anne, Schijvens, Anne, Lapeyraque, Anne-Laure, Java, Anuja, Awan, Atif, Covella, Bianca, Dixon, Brad, El Sissy, Carine, Duinevel, Caroline, Maville, Christine, Turudic, Daniel, Karpman, Diana, Haffner, Dieter, Trembecka-Dubel, Elżbieta, Ozaltin, Fatih, Emma, Francesco, Schaefer, Franz, Kang, Hee Gyung, Trimarchi, Hernán, Trujillo, Hernando, Ulasi, Ifeoma, Ekwueme, Alex, Menne, Jan, Laurence, Jeffrey, Calado, Joaquim, Hofer, Johannes, Zuber, Julien, Oh, Jun, Bakar, Karmila Abu, Jackson, Kate Smith, Turudic, Daniel, Milosevic, Danko, Karpman, Diana, Trembecka-Dubel, Elżbieta, Ozaltin, Fatih, Emma, Francesco, Schaefer, Franz, Ariceta, Gema, Kang, Hee Gyung, Trimarchi, Hernán, Trujillo, Hernando, Ulasi, Ifeoma, Ekwueme, Alex, Menne, Jan, Laurence, Jeffrey, Calado, Joaquim, Claes, Kathleen J., Kaartinen, Kati, Alhasan, Khalid, Wijnsma, Kioa, van den Heuvel, L.P., Alconcher, Laura, Izabel de Holanda, Maria, Szczepańska, Maria, Meuleman, Marie-Sophie, Lemaire, Mathieu, Harris, Meredith, Michalopulos, Michael G., Malina, Michal, Józsi, Mihály, Stajić, Nataša, Isbel, Nicole, Walsh, Patrick, Coccia, Paula A., Ramachandran, Raja, Topaloglu, Rezan, Timmermans, Sjoerd A.M.E.G., Chauvet, Sophie, Levart, Tanja Kersnik, Seeman, Tomas, Tasic, Velibor, Tesař, Vladimír, Song, Wen-Chao, Zhang, Yuzhou, Prohászka, Zoltán

Source: Kidney International; 20240101, Issue: Preprints

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