Results 111 to 120 of about 6,860 (229)

Cystinosis in Eastern Turkey

, 2016
Background: This study was conducted to investigate CTNS (cystinosin, lysosomal cystine transporter) gene mutations and the clinical spectrum of nephropathic cystinosis among patients diagnosed with the disease in a single center in ...
CESUR, Yaşar, Dogan, Murat, Bulan, Keziban, Ceylaner, Serdar, Ustyol, Lokman, Kaba, Sultan   +5 more
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Visuomotor Performance in Children with Infantile Nephropathy Cystinosis

, 1996
Infantile nephropathy cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in various organs, including the kidney, cornea, thyroid, and brain.
Kathleen M. Scarvie, Doris A. Trauner, Angela O. Ballantyne   +2 more
core   +1 more source

Effects of long-term cysteamine treatment in patients with cystinosis [PDF]

, 2017
Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation.
Santos Rodríguez, Fernando, Vincenzo Giordano, Gema Ariceta, Fernando Santos, Giordano, V., Giordano, Vincenzo, Santos, Fernando, Ariceta, G., Ariceta Iraola, Gema   +8 more
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The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis

, 2017
Background and objectives Infantile nephropathic cystinosis is a severe disease that occurs due to mutations in the cystinosis gene, and it is characterized by progressive dysfunction of multiple organs; >100 cystinosis gene mutations have been ...
Fatih Ozaltin, Baskin, E, Baskin, Esra, Nur Canpolat, Hayran, Mutlu, Nurver Akinci, Akinci, Nurver, Gulhan, Bora, Canpolat, N, contributors, of, İsmail Dursun, Noyan, Aytul, Hacihamdioglu, Duygu Ovunc, Metin Kaya Gürgöze, Övünç, Hacihamdioğlu, Gurgoze, Metin Kaya, İnözü, M, Serdaroglu, Erkin, Topaloglu, Rezan, Erkin Serdaroğlu, Selçuk Yüksel, Serdaroğlu, E, Inozu, Mihriban, Ozaltin, F, Kilic, Beltinge Demircioglu, Rezan Topaloglu, İbrahim Gökçe, Hayran, M, Canpolat, Nur, Gulhan, B, Gürgöze, MK, null null, Yilmaz, A, Beltinge Demircioğlu Kiliç, Gokce, Ibrahim, Noyan, A, Esra Baskin, Duygu Övünç Hacihamdioğlu, Emine Korkmaz, Gökçe, İ, Yuksel, Selcuk, Korkmaz, Emine, Bora Gulhan, Ozaltin, Fatih, Mutlu Hayran, Akinci, N, Yüksel, S, Korkmaz, E, Yilmaz, Alev, Dursun, Ismail, Mihriban İnözü, Demircioğlu, Kiliç, Alev Yilmaz, Aytül Noyan, Topaloglu, R   +54 more
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Molecular based newborn screening in Germany: Follow-up for cystinosis

Molecular Genetics and Metabolism Reports, 2019
Background: Newborn screening (NBS) programs for treatable metabolic disorders have been enormously successful, but molecular-based screening has not been broadly implemented so far.
Katharina Hohenfellner, Carsten Bergmann, Tobias Fleige, Nils Janzen, Siegfried Burggraf, Bernd Olgemöller, William A. Gahl, Ludwig Czibere, Sonja Froschauer, Wulf Röschinger, Katharina Vill, Erik Harms, Uta Nennstiel   +12 more
doaj   +1 more source

Cystinosis: practical tools for diagnosis and treatment

, 2010
Contains fulltext : 97776.pdf (Publisher’s version ) (Open Access)Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage ...
Wilmer, Martijn J., Levtchenko, Elena, Heuvel, L.P.W.J. van den, Martijn J. Wilmer, Levtchenko, E.N., Joost P. Schoeber, Wilmer, M.J.G., Lambertus P. van den Heuvel, Schoeber, Joost P., Elena N. Levtchenko, Schoeber, J.P.H., van den Heuvel, Lambertus   +11 more
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Treatment of corneal cystine crystal accumulation in patients with cystinosis

Clinical Ophthalmology, 2014
Fatemeh Shams, Iain Livingstone, Dilys Oladiwura, Kanna Ramaesh Department of Ophthalmology, Gartnavel General Hospital, Glasgow, Scotland Abstract: Cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine within ...
Shams F, Livingstone I, Oladiwura D, Ramaesh K   +3 more
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Infantile Nephropathic Cystinosis in Sulaimani Pediatric Teaching Hospital: A Retrospective Cohort Study

Kurdistan Journal of Applied Research, 2018
Cystinosis is a rare metabolic autosomal recessive disorder which characterized by intralysosomal accumulation of cystine. There are three forms; infantile nephropathic is the commonest forms.
Hunar Jamal Hussein, Khalid Hama Salih, Adnan Mohammed Hasan   +2 more
doaj   +1 more source

Altered mTOR signalling in nephropathic cystinosis

, 2016
Lysosomes play a central role in regulating autophagy via activation of mammalian target of rapamycin complex 1 (mTORC1). We examined mTORC1 signalling in the lysosomal storage disease nephropathic cystinosis (MIM 219800), in which accumulation of ...
Pastore, Anna, Levtchenko, Elena, Ivanova, Ekaterina, van den Heuvel, Bert, Missiaen, Ludwig, Bultynck, Geert, De Smedt, Humbert, Mekahli, Djalila, Ibrahim, Mohamed   +8 more
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11 | Human immortalized myoblasts/induced pluripotent stem cell derived skeletal muscle model to investigate cystinosis myopathy

European Journal of Translational Myology
Cystinosis myopathy develops in cystinosis patients with CTNS mutations as the disease progresses despite cysteamine therapy or kidney transplantation. It presents as muscle weakness in distal, swallowing and respiratory muscles1. Muscle biopsy typically
Interuniversity Institute of Myology
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