Results 121 to 130 of about 6,860 (229)

Neurocognitive functioning in school-aged cystinosis patients.

, 2010
Contains fulltext : 89600.pdf (Publisher’s version ) (Open Access)INTRODUCTION: Cystinosis is an autosomal recessive disorder leading to intralysosomal cystine accumulation in various tissues.
Lilien, M.R., van der Rijken, R.EA., Vande Walle, J., Hulstijn-Dirkmaat, G. M., van Dael, C.M., van der Rijken, R. E. A., M. T. P. Besouw, Hulstijn-Dirkmaat, G.M., Rijken, R.E.A. van der, Lilien, M. R., E. N. Levtchenko, R. E. A. van der Rijken, Dael, C.M. van, E. A. M. Cornelissen, M. R. Lilien, Cornelissen, E.AM., Walle, J. van der, Besouw, M. T. P., J. Vande Walle, Besouw, M.T., G. M. Hulstijn-Dirkmaat, Levtchenko, Elena, Levtchenko, E. N., van Dael, C. M., Levtchenko, E.N., Besouw, M.TP., Cornelissen, E.A.M., C. M. van Dael   +27 more
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Cystinosis in Emerging Adulthood

, 2013
Purpose: Medical advances have allowed for the transmutation of cystinosis, a rare disease, from fatal in childhood, to chronic and manageable into adulthood.
Doyle, Maya Helene
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Cystinosis [PDF]

Archives of Disease in Childhood, 1952
openaire   +2 more sources

Mood and illness experiences of adults with cystinosis

, 2015
BACKGROUND: Cystinosis is an autosomal recessive disorder with an estimated incidence of 1/100,000-200,000 live births. The main complications are renal disease, visual impairment, endocrine abnormalities and growth retardation.OBJECTIVE: Our aim was to ...
Weinman, John, Ostermann, Marlies, Beinart, Naomi, Hackett, Ruth A; id_orcid, Hackett, Ruth A, Graham, Christopher D   +5 more
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First Successful Conception Induced by a Male Cystinosis Patient

, 2018
Cystinosis is a rare autosomal recessive lysosomal storage disease characterized by multi-organ cystine accumulation, leading to renal failure and extra-renal organ dysfunction.
Veys, Koenraad, Besouw, Martine T.P., Wetzels, Alex A.MM., Levtchenko, Elena, Goossens, Ellen, van den Heuvel, Bert, van Dongen, Angelique J.CM., D'Hauwers, Kathleen W., Janssen, Mirian C.   +8 more
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Unraveling the origin of azoospermia in male cystinosis patients

, 2019
Study question:Is azoospermia in male cystinosis patients obstructive or nonobstructive in origin? Summary answer: Azoospermia in male cystinosis patients is obstructive in origin.
Veys, Koenraad, Levtchenko, Elena, Rega, Laura R, Goossens, Ellen, Cyr, Daniel G., Van den Heuvel, Lambert P, Reda, Ahmed, Kadam, Prashant, Emma, Francesco, Taranta, Anna, Camps, Carlo   +10 more
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Infantile Cystinosis

Archives of Pathology & Laboratory Medicine, 2005
Dinesh, Rakheja, Dennis C, Wooten, Ana M, Gomez   +2 more
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A patient with cystinosis presenting transient features of Bartter syndrome

The Turkish Journal of Pediatrics, 2006
A 16-month-old boy was admitted to the clinic because of vomiting and growth failure. His weight and height measurements were under the fifth percentile. He had fair hair and skin, enlarged wrists and rachitic rosaries.
Bilal Yildiz, Sultan Durmuş-Aydoğdu, Nurdan Kural, Kismet Bildirici, Hikmet Başmak, Coşkun Yarar   +5 more
doaj  

Growth retardation in children with cystinosis

, 2010
Cystinosis is a rare autosomal recessive disorder characterized by the intralysosomal accumulation of cystine in all tissues due to mutations in the CTNS gene (17p13.3).
Besouw, M, Levtchenko, E
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Bone Marrow Cystine Crystals in Cystinosis

, 2002
bone marrow cystine crystals in cystinosis ...
Lawrence, Christine
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