Results 91 to 100 of about 5,039 (197)
Bone Marrow Cystine Crystals in Cystinosis
, 2002 bone marrow cystine crystals in cystinosis ...
Lawrence, Christine
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European Journal of Translational MyologyCystinosis 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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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 +3 more
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Detailed studies of growth hormone secretion in cystinosis patients
, 2012 Cystinosis is an autosomal recessive disorder characterized by intralysosomal cystine accumulation. Growth retardation is more pronounced in cystinosis than in other chronic kidney diseases and is mostly not corrected by cysteamine.
Van Hoyweghen, Elke +4 more
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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 +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 +2 more
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Bilateral Optic Disc Swelling in Cystinosis
, 2005 To describe three patients with bilateral optic disc swelling and ...
M. Gabriela Wirth; Guido F. Laube; Thomas J. Neuhaus; Klara Landau
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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. +11 more
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Chitotriosidase plasma activity in nephropathic cystinosis
, 2009 Chitotriosidase is a fully active chitinase produced and secreted by activated phagocytes. Plasma chitotriosidase activity is a well-established marker of total disease burden in Gaucher disease that has proved useful in monitoring the response to both ...
Michelakakis, H. +5 more
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