Works matching AU Levtchenko, Elena

Results: 165

An unusual case of neuroblastoma presenting with prolonged watery diarrhea in a pediatric patient.

Published in:

Biochemia Medica, 2025, v. 35, n. 2, p. 1, doi. 10.11613/BM.2025.020901

By:

Claeyssens, Claire;
Witters, Peter;
Segers, Heidi;
De Koster, Jan;
Levtchenko, Elena;
Vermeersch, Pieter

Publication type:

Article

Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 532, doi. 10.1002/humu.20685

By:

Wamelink, Mirjam M.C.;
Struys, Eduard A.;
Jansen, Erwin E.W.;
Levtchenko, Elena N.;
Zijlstra, Fokje S.M.;
Engelke, Udo;
Blom, Henk J.;
Jakobs, Cornelis;
Wevers, Ron A.

Publication type:

Article

Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients.

Published in:

Clinical Kidney Journal, 2022, v. 15, n. 9, p. 1675, doi. 10.1093/ckj/sfac099

By:

Levtchenko, Elena;
Servais, Aude;
Hulton, Sally A;
Ariceta, Gema;
Emma, Francesco;
Game, David S;
Lange, Karin;
Lapatto, Risto;
Liang, Hong;
Sberro-Soussan, Rebecca;
Topaloglu, Rezan;
Das, Anibh M;
Webb, Nicholas J A;
Wanner, Christoph

Publication type:

Article

The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves: objectives and design.

Published in:

Clinical Kidney Journal, 2020, v. 13, n. 3, p. 371, doi. 10.1093/ckj/sfz107

By:

Buffin-Meyer, Bénédicte;
Klein, Julie;
Zanden, Loes F M van der;
Levtchenko, Elena;
Moulos, Panogiotis;
Lounis, Nadia;
Conte-Auriol, Françoise;
Hindryckx, An;
Wühl, Elke;
Persico, Nicola;
Oepkes, Dick;
Schreuder, Michiel F;
Tkaczyk, Marcin;
Ariceta, Gema;
Fossum, Magdalena;
Parvex, Paloma;
Feitz, Wout;
Olsen, Henning;
Montini, Giovanni;
Decramer, Stéphane

Publication type:

Article

Health-related quality of life of children with first onset steroid-sensitive nephrotic syndrome.

Published in:

European Journal of Pediatrics, 2023, v. 182, n. 10, p. 4605, doi. 10.1007/s00431-023-05135-5

By:

Veltkamp, Floor;
Teela, Lorynn;
Luijten, Michiel A. J.;
van Oers, Hedy A.;
Mak-Nienhuis, Elske M.;
Haverman, Lotte;
Bouts, Antonia H. M.;
on behalf of the LEARNS consortium;
Adeel, Abdul;
Bael, Anna;
Buter, Nynke H.;
van der Deure, Hans;
Dorresteijn, Eiske;
Florquin, Sandrine;
Gracchi, Valentina;
Horuz, Flore;
Kloosterman-Eijgenraam, Francis;
Levtchenko, Elena;
Mathôt, Ron A. A.;
Oversteege, Floor

Publication type:

Article

Renal Replacement Therapy in children with severe developmental disability: guiding questions for decision-making.

Published in:

2018

By:

Willem, Lore;
Knops, Noël;
Mekahli, Djalila;
Cochat, Pierre;
Edefonti, Alberto;
Verrina, Enrico;
Groothoff, Jaap;
Lagae, Lieven;
Pirenne, Jacques;
Dobbels, Fabienne;
Borry, Pascal;
Van Geet, Chris;
Levtchenko, Elena

Publication type:

journal article

Occurrence of atypical HUS associated with influenza B.

Published in:

2017

By:

Hoeve, Karen;
Vandermeulen, Corinne;
Van Ranst, Marc;
Levtchenko, Elena;
Heuvel, Lambert;
Mekahli, Djalila;
van Hoeve, Karen;
van den Heuvel, Lambert

Publication type:

journal article

Corrigendum: Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.

Published in:

2021

By:

Laurent, Michaël R.;
De Schepper, Jean;
Trouet, Dominique;
Godefroid, Nathalie;
Boros, Emese;
Heinrichs, Claudine;
Bravenboer, Bert;
Velkeniers, Brigitte;
Lammens, Johan;
Harvengt, Pol;
Cavalier, Etienne;
Kaux, Jean-François;
Lombet, Jacques;
De Waele, Kathleen;
Verroken, Charlotte;
van Hoeck, Koenraad;
Mortier, Geert R.;
Levtchenko, Elena;
Vande Walle, Johan

Publication type:

Correction Notice

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.

Published in:

Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.641543

By:

Laurent, Michaël R.;
De Schepper, Jean;
Trouet, Dominique;
Godefroid, Nathalie;
Boros, Emese;
Heinrichs, Claudine;
Bravenboer, Bert;
Velkeniers, Brigitte;
Lammens, Johan;
Harvengt, Pol;
Cavalier, Etienne;
Kaux, Jean-François;
Lombet, Jacques;
De Waele, Kathleen;
Verroken, Charlotte;
van Hoeck, Koenraad;
Mortier, Geert R.;
Levtchenko, Elena;
Vande Walle, Johan

Publication type:

Article

Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 935, doi. 10.1038/sj.ejhg.5201446

By:

Bongers, Ernie M. H. F.;
Huysmans, Frans T.;
Levtchenko, Elena;
de Rooy, Jacky W.;
Blickman, Johan G.;
Admiraal, Ronald J. C.;
Huygen, Patrick L. M.;
Cruysberg, Johannes R. M.;
Toolens, Pauline A. M. P.;
Prins, Judith B.;
Krabbe, Paul F. M.;
Borm, George F.;
Schoots, Jeroen;
van Bokhoven, Hans;
van Remortele, Angela M. F.;
Hoefsloot, Lies H.;
van Kampen, Albert;
Knoers, Nine V. A. M.

Publication type:

Article

Correction: Catch–up growth in the first two years of life in Extremely Low Birth Weight (ELBW) infants is associated with lower body fat in young adolescence.

Published in:

2018

By:

Raaijmakers, Anke;
Jacobs, Lotte;
Rayyan, Maissa;
van Tienoven, Theun Pieter;
Ortibus, Els;
Levtchenko, Elena;
Staessen, Jan A.;
Allegaert, Karel

Publication type:

Correction Notice

Serum Shiga toxin 2 values in patients during acute phase of diarrhoea-associated haemolytic uraemic syndrome.

Published in:

2015

By:

He, Xiaohua;
Quiñones, Beatriz;
Loo, Maroeska Te;
Loos, Sebastian;
Scavia, Gaia;
Brigotti, Maurizio;
Levtchenko, Elena;
Monnens, Leo

Publication type:

journal article

FGF23 and its role in X-linked hypophosphatemia-related morbidity.

Published in:

2019

By:

Beck-Nielsen, Signe Sparre;
Mughal, Zulf;
Haffner, Dieter;
Nilsson, Ola;
Levtchenko, Elena;
Ariceta, Gema;
de Lucas Collantes, Carmen;
Schnabel, Dirk;
Jandhyala, Ravi;
Mäkitie, Outi

Publication type:

journal article

FXYD2 and Na,K-ATPase expression in isolated human proximal tubular cells: disturbed upregulation on renal hypomagnesemia?

Published in:

2009

By:

Cairo, Edinio R.;
Swarts, Herman G. P.;
Wilmer, Martijn J. G.;
Willems, Peter H. G. M.;
Levtchenko, Elena N.;
De Pont, Jan Joep H. H. M.;
Koenderink, Jan B.

Publication type:

journal article

Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin.

Published in:

Pflügers Archiv: European Journal of Physiology, 2014, v. 466, n. 8, p. 1591, doi. 10.1007/s00424-013-1394-x

By:

Mekahli, Djalila;
Decuypere, Jean-Paul;
Sammels, Eva;
Welkenhuyzen, Kirsten;
Schoeber, Joost;
Audrezet, Marie-Pierre;
Corvelyn, Anniek;
Dechênes, Georges;
Ong, Albert;
Wilmer, Martijn;
Heuvel, Lambertus;
Bultynck, Geert;
Parys, Jan;
Missiaen, Ludwig;
Levtchenko, Elena;
Smedt, Humbert

Publication type:

Article

Distribution of cystinosin-LKG in human tissues.

Published in:

Histochemistry & Cell Biology, 2012, v. 138, n. 2, p. 351, doi. 10.1007/s00418-012-0958-8

By:

Taranta, Anna;
Petrini, Stefania;
Citti, Arianna;
Boldrini, Renata;
Corallini, Serena;
Bellomo, Francesco;
Levtchenko, Elena;
Emma, Francesco

Publication type:

Article

A promising pediatric peritoneal dialysis experience in a resource-limited setting with the support of saving young lives program.

Published in:

Peritoneal Dialysis International, 2020, v. 40, n. 5, p. 504, doi. 10.1177/0896860819887286

By:

Nkoy, Agathe B.;
Ndiyo, Yoli M.;
Matoka, Therance T.;
Odio, Bienvenu M.;
Kazadi, Orly K.;
Aloni, Michel N.;
Collard, Laure;
McCulloch, Mignon;
Ngiyulu, Rene M.;
Gini, Jean-Lambert E.;
Lepira, François B.;
van den Heuvel, Lambertus P.;
Levtchenko, Elena;
Ekulu, Pepe M.

Publication type:

Article

Bortezomib for autoimmune hemolytic anemia after intestinal transplantation.

Published in:

Pediatric Transplantation, 2020, v. 24, n. 4, p. 1, doi. 10.1111/petr.13700

By:

Knops, Noël;
Emonds, Marie‐Paule;
Herman, Jean;
Levtchenko, Elena;
Mekahli, Djalila;
Pirenne, Jacques;
Van Geet, Chris;
Dierickx, Daan

Publication type:

Article

Genetic Renal Diseases: The Emerging Role of Zebrafish Models.

Published in:

Cells (2073-4409), 2018, v. 7, n. 9, p. 130, doi. 10.3390/cells7090130

By:

Elmonem, Mohamed A.;
Berlingerio, Sante Princiero;
van den Heuvel, Lambertus P.;
de Witte, Peter A.;
Lowe, Martin;
Levtchenko, Elena N.

Publication type:

Article

Design and feasibility of “PREMATurity as predictor of children's Cardiovascular–renal Health” (PREMATCH): A pilot study.

Published in:

Blood Pressure, 2015, v. 24, n. 5, p. 275, doi. 10.3109/08037051.2015.1053220

By:

Raaijmakers, Anke;
Petit, Thibault;
Gu, Yumei;
Zhang, Zhenyu;
Wei, Fangfei;
Cools, Bjorn;
Jacobs, Lotte;
Thijs, Lutgarde;
Thewissen, Liesbeth;
Levtchenko, Elena;
Staessen, Jan A.;
Allegaert, Karel

Publication type:

Article

Amniotic Fluid Derived Stem Cells with a Renal Progenitor Phenotype Inhibit Interstitial Fibrosis in Renal Ischemia and Reperfusion Injury in Rats.

Published in:

PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0136145

By:

Monteiro Carvalho Mori da Cunha, Marina Gabriela;
Zia, Silvia;
Oliveira Arcolino, Fanny;
Carlon, Marianne Sylvia;
Beckmann, Diego Vilibaldo;
Pippi, Ney Luis;
Luhers Graça, Dominguita;
Levtchenko, Elena;
Deprest, Jan;
Toelen, Jaan

Publication type:

Article

Endo-Lysosomal Dysfunction in Human Proximal Tubular Epithelial Cells Deficient for Lysosomal Cystine Transporter Cystinosin.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0120998

By:

Ivanova, Ekaterina A.;
De Leo, Maria Giovanna;
Van Den Heuvel, Lambertus;
Pastore, Anna;
Dijkman, Henry;
De Matteis, Maria Antonietta;
Levtchenko, Elena N.

Publication type:

Article

Stem Cell Microvesicles Transfer Cystinosin to Human Cystinotic Cells and Reduce Cystine Accumulation In Vitro.

Published in:

PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042840

By:

Iglesias, Diana M.;
El-Kares, Reyhan;
Taranta, Anna;
Bellomo, Francesco;
Emma, Francesco;
Besouw, Martine;
Levtchenko, Elena;
Toelen, Jaan;
den Heuvel, Lambertus van;
LeeLee Chu;
Jing Zhao;
Young, Yoon Kow;
Eliopoulos, Nicoletta;
Goodyer, Paul;
Borlongan, Cesario V.

Publication type:

Article

Relevance of repeated analyses of albuminuria and glomerular filtration rate in African children with sickle cell anaemia.

Published in:

British Journal of Haematology, 2024, v. 205, n. 3, p. 1137, doi. 10.1111/bjh.19603

By:

Nkoy, Agathe B.;
Mumaka, Floreen M.;
Ngonde, Ange;
Mafumba, Samuel K.;
Matoka, Therance T.;
Kitenge, Robert;
Talu, Flore M.;
Nkolomoni, Blaise;
Tshilolo, Léon;
van den Heuvel, Lambertus P.;
Ekulu, Pépé M.;
Levtchenko, Elena N.;
Labarque, Veerle

Publication type:

Article

Clinical and genetic factors are associated with kidney complications in African children with sickle cell anaemia.

Published in:

British Journal of Haematology, 2022, v. 196, n. 1, p. 204, doi. 10.1111/bjh.17832

By:

Adebayo, Oyindamola Christiana;
Betukumesu, DieuMerci Kabasele;
Nkoy, Agathe Bikupe;
Adesoji, Oluyomi Modupe;
Ekulu, Pepe Mfutu;
Van den Heuvel, Lambertus P.;
Levtchenko, Elena N.;
Labarque, Veerle

Publication type:

Article

Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-47085-w

By:

Bondue, Tjessa;
Berlingerio, Sante Princiero;
Siegerist, Florian;
Sendino-Garví, Elena;
Schindler, Maximilian;
Baelde, Hans Jacobus;
Cairoli, Sara;
Goffredo, Bianca Maria;
Arcolino, Fanny Oliveira;
Dieker, Jürgen;
Janssen, Manoe Jacoba;
Endlich, Nicole;
Brock, Roland;
Gijsbers, Rik;
van den Heuvel, Lambertus;
Levtchenko, Elena

Publication type:

Article

Immunomodulatory Effects of Chitotriosidase Enzyme.

Published in:

Enzyme Research, 2016, p. 1, doi. 10.1155/2016/2682680

By:

Elmonem, Mohamed A.;
van den Heuvel, Lambertus P.;
Levtchenko, Elena N.

Publication type:

Article

Population-specific serum creatinine centiles in neonates with posterior urethral valves already predict long-term renal outcome.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2015, v. 28, n. 9, p. 1026, doi. 10.3109/14767058.2014.942278

By:

Lemmens, An-Sofie;
Mekahli, Djalila;
Devlieger, Roland;
Levtchenko, Elena;
Allegaert, Karel

Publication type:

Article

Follow‐up and treatment of adults with cystinosis in the Netherlands.

Published in:

Nephrology Dialysis Transplantation, 2002, v. 17, n. 10, p. 1766, doi. 10.1093/ndt/17.10.1766

By:

Geelen, Joyce M.;
Monnens, Leo A. H.;
Levtchenko, Elena N.

Publication type:

Article

A PATIENT WITH NEONATAL CHOLESTASIS.

Published in:

Journal of Mother & Child, 2020, v. 24, n. 4, p. 31, doi. 10.34763/jmotherandchild.20202404.d-20-00012

By:

Claeys, Kristl G.;
Breysem, Luc;
Legius, Eric;
Brems, Hilde;
Cassiman, David;
Moisse, Matthieu;
Vermeersch, Pieter;
Levtchenko, Elena;
Jaeken, Jaak

Publication type:

Article

Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction.

Published in:

Scientific Reports, 2017, p. 42583, doi. 10.1038/srep42583

By:

Elmonem, Mohamed A.;
Khalil, Ramzi;
Khodaparast, Ladan;
Khodaparast, Laleh;
Arcolino, Fanny O.;
Morgan, Joseph;
Pastore, Anna;
Tylzanowski, Przemko;
Ny, Annelii;
Lowe, Martin;
de Witte, Peter A.;
Baelde, Hans J.;
van den Heuvel, Lambertus P.;
Levtchenko, Elena

Publication type:

Article

Ophthalmic Outcome in a Belgian Cohort of Cystinosis Patients Treated with a Compounded Preparation of Cysteamine Eye Drops: Retrospective Analysis.

Published in:

Ophthalmology & Therapy, 2019, v. 8, n. 4, p. 623, doi. 10.1007/s40123-019-00216-x

By:

Peeters, Freya;
Cassiman, Catherine;
Van Keer, Karel;
Levtchenko, Elena;
Veys, Koenraad;
Casteels, Ingele

Publication type:

Article

Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis.

Published in:

Ophthalmology & Therapy, 2017, v. 6, n. 1, p. 93, doi. 10.1007/s40123-017-0089-3

By:

Pinxten, Anne-Marie;
Hua, Minh-Tri;
Simpson, Jennifer;
Hohenfellner, Katharina;
Levtchenko, Elena;
Casteels, Ingele

Publication type:

Article

Improving the prognosis of nephropathic cystinosis.

Published in:

International Journal of Nephrology & Renovascular Disease, 2014, v. 7, p. 297, doi. 10.2147/IJNRD.S37603

By:

Besouw, Martine T. P.;
Levtchenko, Elena N.

Publication type:

Article

Neonatal circulatory failure due to acute hypertensive crisis: clinical and echocardiographic clues.

Published in:

Cardiovascular Journal of Africa, 2013, v. 24, n. 3, p. 72, doi. 10.5830/CVJA-2013-003

By:

LOUW, JACOBA;
BROWN, STEPHEN;
THEWISSEN, LIESBETH;
SMITS, ANNE;
EYSKENS, BENEDICTE;
HEYING, RUTH;
COOLS, BJORN;
LEVTCHENKO, ELENA;
ALLEGAERT, KAREL;
GEWILLIG, MARC

Publication type:

Article

Clinicians’ attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease.

Published in:

PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0185779

By:

De Rechter, Stéphanie;
Kringen, Jonathan;
Janssens, Peter;
Liebau, Max Christoph;
Devriendt, Koenraad;
Levtchenko, Elena;
Bergmann, Carsten;
Jouret, François;
Bammens, Bert;
Borry, Pascal;
Schaefer, Franz;
Mekahli, Djalila

Publication type:

Article

Pituitary adenylate cyclase-activating polypeptide (PACAP) in zebrafish models of nephrotic syndrome.

Published in:

PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0182100

By:

Eneman, Benedicte;
Elmonem, Mohamed A.;
van den Heuvel, Lambertus P.;
Khodaparast, Laleh;
Khodaparast, Ladan;
van Geet, Chris;
Freson, Kathleen;
Levtchenko, Elena

Publication type:

Article

Catch–up growth in the first two years of life in Extremely Low Birth Weight (ELBW) infants is associated with lower body fat in young adolescence.

Published in:

PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173349

By:

Raaijmakers, Anke;
Jacobs, Lotte;
Rayyan, Maissa;
van Tienoven, Theun Pieter;
Ortibus, Els;
Levtchenko, Elena;
Staessen, Jan A.;
Allegaert, Karel

Publication type:

Article

Simplified screening criteria for HNF1B analysis.

Published in:

Kidney International, 2015, v. 87, n. 6, p. 1258, doi. 10.1038/ki.2015.49

By:

Raaijmakers, Anke A;
Mekahli, Djalila;
Levtchenko, Elena N

Publication type:

Article

The Use of CDME in Cystinosis Research.

Published in:

Neurochemical Research, 2008, v. 33, n. 11, p. 2373, doi. 10.1007/s11064-008-9709-6

By:

Martijn Wilmer;
Lambertus van den Heuvel;
Elena Levtchenko

Publication type:

Article

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Published in:

2016

By:

Morimoto, Marie;
Myung, Clara;
Beirnes, Kimberly;
Choi, Kunho;
Asakura, Yumi;
Bokenkamp, Arend;
Bonneau, Dominique;
Brugnara, Milena;
Charrow, Joel;
Colin, Estelle;
Davis, Amira;
Deschenes, Georges;
Gentile, Mattia;
Giordano, Mario;
Gormley, Andrew K;
Govender, Rajeshree;
Joseph, Mark;
Keller, Kory;
Lerut, Evelyne;
Levtchenko, Elena

Publication type:

journal article

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immunoosseous dysplasia?

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0519-7

By:

Morimoto, Marie;
Myung, Clara;
Beirnes, Kimberly;
Kunho Choi;
Yumi Asakura;
Bokenkamp, Arend;
Bonneau, Dominique;
Brugnara, Milena;
Charrow, Joel;
Colin, Estelle;
Davis, Amira;
Deschenes, Georges;
Gentile, Mattia;
Giordano, Mario;
Gormley, Andrew K.;
Govender, Rajeshree;
Joseph, Mark;
Keller, Kory;
Lerut, Evelyne;
Levtchenko, Elena

Publication type:

Article

Cystinosis: a review.

Published in:

2016

By:

Elmonem, Mohamed A.;
Veys, Koenraad R.;
Soliman, Neveen A.;
van Dyck, Maria;
van den Heuvel, Lambertus P.;
Levtchenko, Elena

Publication type:

journal article

Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 155, doi. 10.1186/s13023-014-0155-z

By:

Elmonem, Mohamed A;
Makar, Samuel H;
van den Heuvel, Lambertus;
Abdelaziz, Hanan;
Abdelrahman, Safaa M;
Bossuyt, Xavier;
Janssen, Mirian C;
Cornelissen, Elisabeth AM;
Lefeber, Dirk J;
Joosten, Leo AB;
Nabhan, Marwa M;
Arcolino, Fanny O;
Hassan, Fayza A;
Gaide Chevronnay, Héloïse P;
Soliman, Neveen A;
Levtchenko, Elena

Publication type:

Article

Gitelman syndrome.

Published in:

2008

By:

Knoers NV;
Levtchenko EN;
Knoers, Nine V A M;
Levtchenko, Elena N

Publication type:

journal article

Gitelman syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2008, v. 3, p. 1, doi. 10.1186/1750-1172-3-22

By:

Knoers, Nine V. A. M.;
Levtchenko, Elena N.

Publication type:

Article

Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 43, doi. 10.1002/jimd.12562

By:

Veys, Koenraad;
Zadora, Ward;
Hohenfellner, Katharina;
Bockenhauer, Detlef;
Janssen, Mirian C. H.;
Niaudet, Patrick;
Servais, Aude;
Topaloglu, Rezan;
Besouw, Martine;
Novo, Robert;
Haffner, Dieter;
Kanzelmeyer, Nele;
Pape, Lars;
Wühl, Elke;
Harms, Erik;
Awan, Atif;
Sikora, Przemyslaw;
Ariceta, Gema;
van den Heuvel, Bert;
Levtchenko, Elena

Publication type:

Article

Pregnancy in cystinosis patients with chronic kidney disease: A European case series.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 963, doi. 10.1002/jimd.12529

By:

Servais, Aude;
Janssen, Mirian C. H.;
Blakey, Hannah;
Greco, Marcella;
Lemoine, Sandrine;
Martin‐Moreno, Paloma L.;
Game, David;
Levtchenko, Elena;
Lipkin, Graham

Publication type:

Article

Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood‐testis barrier and a subtherapeutic effect of cysteamine in testis.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1393, doi. 10.1002/jimd.12434

By:

Reda, Ahmed;
Veys, Koenraad;
Kadam, Prashant;
Taranta, Anna;
Rega, Laura Rita;
Goffredo, Bianca M.;
Camps, Chelsea;
Besouw, Martine;
Cyr, Daniel;
Albersen, Maarten;
Spiessens, Carl;
de Wever, Liesbeth;
Hamer, Robert;
Janssen, Mirian C.H.;
D'Hauwers, Kathleen;
Wetzels, Alex;
Monnens, Leo;
van den Heuvel, Lambertus;
Goossens, Ellen;
Levtchenko, Elena

Publication type:

Article

Management of bone disease in cystinosis: Statement from an international conference.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 1019, doi. 10.1002/jimd.12134

By:

Hohenfellner, Katharina;
Rauch, Frank;
Ariceta, Gema;
Awan, Atif;
Bacchetta, Justine;
Bergmann, Carsten;
Bechtold, Susanne;
Cassidy, Noelle;
Deschenes, Geroges;
Elenberg, Ewa;
Gahl, William A.;
Greil, Oliver;
Harms, Erik;
Herzig, Nadine;
Hoppe, Bernd;
Koeppl, Christian;
Lewis, Malcolm A.;
Levtchenko, Elena;
Nesterova, Galina;
Santos, Fernando

Publication type:

Article