Skip to contents Nießl, Christina [Author]; Boulesteix, Anne-Laure [Author]; Oh, Jun [Author]; Palm, Katja [Author]; Schlingmann, Peter [Author]; Wygoda, Simone [Author]; Haffner, Dieter [Author]; Wühl, Elke [Author]; Tönshoff, Burkhard [Author]; Büscher, Anja K. [Author]; Billing, Heiko [Author]; Hoppe, Bernd [Author]; Zirngibl, Matthias [Author]; Kettwig, Matthias [Author]; Moeller, Kristina [Author]; Acham-Roschitz, Birgit [Author]; Arbeiter, Klaus [Author]; Bald, Martin [Author]; Benz, Marcus R. [Author]; Galiano, Matthias Luigi [Author]; John-Kroegel, Ulrike [Author]; Klaus, Günter [Author]; Marx-Berger, Daniela [Author]; Moser, Katja [Author]; [...] Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis Articles View online Schließen > Access https://www.sciencedirect.com/science/article/pii/S1096719222003596 Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. 2 July 2022 Published in: Molecular genetics and metabolism ; 136(2022), 4, Seite 268-273 Regnier, Maitena [Author]; Flammier, Sacha [Author]; Boutaba, Mounia [Author]; Ndongo, Aliou Abdoulaye [Author]; Servais, Aude [Author]; Schaefer, Franz [Author]; Levtchenko, Elena [Author]; Bacchetta, Justine [Author]; Bertholet-Thomas, Aurélia [Author] Worldwide disparities in access to treatment and investigations for nephropathic cystinosis : a 2023 perspective Articles View online Schließen > Access Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. April 2024 Published in: Pediatric nephrology ; 39(2024), 4 vom: Apr., Seite 1113-1123 Levtchenko, Elena N. [Editor] Cellular and Molecular Mechanisms of Nephropathic Cystinosis Books View online Schließen > Access https://directory.doabooks.org/handle/20.500.12854/91136 Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Basel: MDPI - Multidisciplinary Digital Publishing Institute, 2022 Jamalpoor, Amer [Author] Investigating the pathophysiology and potential therapeutic approaches for nephropathic cystinosis Books View online Schließen > Access http://dspace.library.uu.nl/handle/1874/400836 Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. [Erscheinungsort nicht ermittelbar]: Utrecht University, 2021 Hohenfellner, Katharina [Author]; Bergmann, Carsten [Author]; Fleige, Tobias [Author]; Janzen, Nils [Author]; Burggraf, Siegfried [Author]; Olgemöller, Bernd [Author]; Gahl, William A. [Author]; Czibere, Ludwig [Author]; Froschauer, Sonja [Author]; Röschinger, Wulf [Author]; Vill, Katharina [Author]; Harms, Erik [Author]; Nennstiel-Ratzel, Uta [Author] Molecular based newborn screening in Germany : follow-up for cystinosis Books View online Schließen > Access More information on the full text Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Amsterdam [u.a.]: Elsevier, 2019 Published in: Molecular genetics and metabolism reports ; 21 (2019), 100514 Kaschig, Katrin [Author] Zinc finger nuclease gene repair as a treatment for cystinosis Books View online Schließen > Access http://hdl.handle.net/10468/1337 Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. [Erscheinungsort nicht ermittelbar]: University College Cork, 2013 Hohenfellner, Katharina [Author]; Bergmann, Carsten [Author]; Haffner, Dieter [Author] Management of bone disease in cystinosis: statement from an international conference Books View online Schließen > Access More information on the full text Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2019 Published in: Journal of inherited metabolic disease ; 42, 5 (2019), 1019-1029 Nießl, Christina [Author]; Pohl, Martin [Author]; Hohenfellner, Katharina [Author] Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis Books View online Schließen > Access More information on the full text Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Orlando, Fla.: Elsevier, 2022 Published in: Molecular genetics and metabolism ; 136, 4 (2022), 268-273 Luaces Rodríguez, Andrea [Author] Improvement of anterior and posterior segment ocular drug delivery: application in ocular cystinosis and age-related macular degeneration Books View online Schließen > Access http://hdl.handle.net/10347/24007 Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. [Erscheinungsort nicht ermittelbar]: [Verlag nicht ermittelbar], 20XX Hohenfellner, Katharina [Author]; Nießl, Christina [Author]; Haffner, Dieter [Author]; Oh, Jun [Author]; Okorn, Christine [Author]; Palm, Katja [Author]; Schlingmann, Karl-Peter [Author]; Wygoda, Simone [Author]; Gahl, William Allen [Author] Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis Articles View online Schließen > Access Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. 2022 Published in: Molecular genetics and metabolism ; 136(2022), 4, Seite 282-288 Jézégou, Adrien [Author] PQ-loop Protein Study : Identification of a New Lysosomal Transporter Involved in Cystinosis Treatment and Bioinformatic Analysis of its Proteic Family ; Etude des protéines à motif PQ : Identification d'un nouveau transporteur lysosomal impliqué dans le traitement de la cystinose et analyse bioinformatique de la famille protéique Books View online Schließen > Access https://tel.archives-ouvertes.fr/tel-01233938 Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. [Erscheinungsort nicht ermittelbar]: HAL CCSD, 2014 Gahl, William A.; Thoene, Jess G.; Schneider, Jerry A. Cystinosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Massachusetts Medical Society, 2002 Published in: New England Journal of Medicine Thoene, J. G. Cystinosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 1995 Published in: Journal of Inherited Metabolic Disease Sidbury, J.B. Cystinosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 1974 Published in: The Journal of Pediatrics Crawhall, John C.; Lietman, Paul S.; Schneider, Jerry A.; Seegmiller, J.Edwin Cystinosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 1968 Published in: The American Journal of Medicine Karpinski, Felix E. CYSTINOSIS Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. American Academy of Pediatrics (AAP), 1960 Published in: Pediatrics Israels, Sydney; Suderman, Harold J. Cystinosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 1955 Published in: The Journal of Pediatrics Fagg, Grahame Cystinosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. SAGE Publications, 1954 Published in: Proceedings of the Royal Society of Medicine Williamson, D. A. J. Cystinosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. BMJ, 1952 Published in: Archives of Disease in Childhood Casado de Frías, Enrique Child cystinosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Royal Spanish Academy of Medicine, 2019 Published in: ANALES RANM
Nießl, Christina [Author]; Boulesteix, Anne-Laure [Author]; Oh, Jun [Author]; Palm, Katja [Author]; Schlingmann, Peter [Author]; Wygoda, Simone [Author]; Haffner, Dieter [Author]; Wühl, Elke [Author]; Tönshoff, Burkhard [Author]; Büscher, Anja K. [Author]; Billing, Heiko [Author]; Hoppe, Bernd [Author]; Zirngibl, Matthias [Author]; Kettwig, Matthias [Author]; Moeller, Kristina [Author]; Acham-Roschitz, Birgit [Author]; Arbeiter, Klaus [Author]; Bald, Martin [Author]; Benz, Marcus R. [Author]; Galiano, Matthias Luigi [Author]; John-Kroegel, Ulrike [Author]; Klaus, Günter [Author]; Marx-Berger, Daniela [Author]; Moser, Katja [Author]; [...] Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis Articles View online Schließen > Access https://www.sciencedirect.com/science/article/pii/S1096719222003596 Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. 2 July 2022 Published in: Molecular genetics and metabolism ; 136(2022), 4, Seite 268-273
> Access https://www.sciencedirect.com/science/article/pii/S1096719222003596 Full access (via DOI) Show more show less
Regnier, Maitena [Author]; Flammier, Sacha [Author]; Boutaba, Mounia [Author]; Ndongo, Aliou Abdoulaye [Author]; Servais, Aude [Author]; Schaefer, Franz [Author]; Levtchenko, Elena [Author]; Bacchetta, Justine [Author]; Bertholet-Thomas, Aurélia [Author] Worldwide disparities in access to treatment and investigations for nephropathic cystinosis : a 2023 perspective Articles View online Schließen > Access Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. April 2024 Published in: Pediatric nephrology ; 39(2024), 4 vom: Apr., Seite 1113-1123
Levtchenko, Elena N. [Editor] Cellular and Molecular Mechanisms of Nephropathic Cystinosis Books View online Schließen > Access https://directory.doabooks.org/handle/20.500.12854/91136 Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Basel: MDPI - Multidisciplinary Digital Publishing Institute, 2022
Jamalpoor, Amer [Author] Investigating the pathophysiology and potential therapeutic approaches for nephropathic cystinosis Books View online Schließen > Access http://dspace.library.uu.nl/handle/1874/400836 Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. [Erscheinungsort nicht ermittelbar]: Utrecht University, 2021
Hohenfellner, Katharina [Author]; Bergmann, Carsten [Author]; Fleige, Tobias [Author]; Janzen, Nils [Author]; Burggraf, Siegfried [Author]; Olgemöller, Bernd [Author]; Gahl, William A. [Author]; Czibere, Ludwig [Author]; Froschauer, Sonja [Author]; Röschinger, Wulf [Author]; Vill, Katharina [Author]; Harms, Erik [Author]; Nennstiel-Ratzel, Uta [Author] Molecular based newborn screening in Germany : follow-up for cystinosis Books View online Schließen > Access More information on the full text Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Amsterdam [u.a.]: Elsevier, 2019 Published in: Molecular genetics and metabolism reports ; 21 (2019), 100514
Kaschig, Katrin [Author] Zinc finger nuclease gene repair as a treatment for cystinosis Books View online Schließen > Access http://hdl.handle.net/10468/1337 Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. [Erscheinungsort nicht ermittelbar]: University College Cork, 2013
Hohenfellner, Katharina [Author]; Bergmann, Carsten [Author]; Haffner, Dieter [Author] Management of bone disease in cystinosis: statement from an international conference Books View online Schließen > Access More information on the full text Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Hoboken, NJ: Wiley, 2019 Published in: Journal of inherited metabolic disease ; 42, 5 (2019), 1019-1029
Nießl, Christina [Author]; Pohl, Martin [Author]; Hohenfellner, Katharina [Author] Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis Books View online Schließen > Access More information on the full text Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Orlando, Fla.: Elsevier, 2022 Published in: Molecular genetics and metabolism ; 136, 4 (2022), 268-273
Luaces Rodríguez, Andrea [Author] Improvement of anterior and posterior segment ocular drug delivery: application in ocular cystinosis and age-related macular degeneration Books View online Schließen > Access http://hdl.handle.net/10347/24007 Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. [Erscheinungsort nicht ermittelbar]: [Verlag nicht ermittelbar], 20XX
Hohenfellner, Katharina [Author]; Nießl, Christina [Author]; Haffner, Dieter [Author]; Oh, Jun [Author]; Okorn, Christine [Author]; Palm, Katja [Author]; Schlingmann, Karl-Peter [Author]; Wygoda, Simone [Author]; Gahl, William Allen [Author] Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis Articles View online Schließen > Access Full access (via DOI) Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. 2022 Published in: Molecular genetics and metabolism ; 136(2022), 4, Seite 282-288
Jézégou, Adrien [Author] PQ-loop Protein Study : Identification of a New Lysosomal Transporter Involved in Cystinosis Treatment and Bioinformatic Analysis of its Proteic Family ; Etude des protéines à motif PQ : Identification d'un nouveau transporteur lysosomal impliqué dans le traitement de la cystinose et analyse bioinformatique de la famille protéique Books View online Schließen > Access https://tel.archives-ouvertes.fr/tel-01233938 Show more show less Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. [Erscheinungsort nicht ermittelbar]: HAL CCSD, 2014
Gahl, William A.; Thoene, Jess G.; Schneider, Jerry A. Cystinosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Massachusetts Medical Society, 2002 Published in: New England Journal of Medicine
Thoene, J. G. Cystinosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 1995 Published in: Journal of Inherited Metabolic Disease
Sidbury, J.B. Cystinosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 1974 Published in: The Journal of Pediatrics
Crawhall, John C.; Lietman, Paul S.; Schneider, Jerry A.; Seegmiller, J.Edwin Cystinosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 1968 Published in: The American Journal of Medicine
Karpinski, Felix E. CYSTINOSIS Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. American Academy of Pediatrics (AAP), 1960 Published in: Pediatrics
Israels, Sydney; Suderman, Harold J. Cystinosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 1955 Published in: The Journal of Pediatrics
Fagg, Grahame Cystinosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. SAGE Publications, 1954 Published in: Proceedings of the Royal Society of Medicine
Williamson, D. A. J. Cystinosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. BMJ, 1952 Published in: Archives of Disease in Childhood
Casado de Frías, Enrique Child cystinosis Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Royal Spanish Academy of Medicine, 2019 Published in: ANALES RANM
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