نتایج جستجو برای: cystinosis
تعداد نتایج: 824 فیلتر نتایج به سال:
DR. KRETCHMER: For many years pediatri cians have known a group of inherited diseases associated with specific biochemical defects. Actually, these diseases were first compiled and demonstrated by Sir Archibald Garrod ap proximately 50 years ago. The case we would like to present, one of cystinosis or cystine storage disease, is an example of one of the so called inborn errors of metabolism. Pa...
A 2-year-old girl with nephropathic cystinosis was successfully treated with topical cysteamine 0.5% to one eye. Clearance of crystals from the treated cornea was virtually complete after three months. The possibilities and limitations of this form of treatment are discussed.
BACKGROUND Nephropathic cystinosis is a rare inherited metabolic disorder leading to progressive renal failure and extra-renal comorbidity. The prognosis relies on early adherence to cysteamine treatment and symptomatic therapies. Developing nations [DiN] experience many challenges for management of cystinosis. The aim of this study was to assess the management characteristics in DiN compared w...
Background: The molecular identity of the lysosomal transporter for cationic amino acids, system c, remains unknown. Result: SLC7A14 is a lysosomal localized protein with a functional domain that mediates arginine transport. Conclusion: SLC7A14 may mediate cationic amino acid transport across lysosomal membranes. Significance: As system c represents a salvage pathway in the therapy of cystinosi...
We describe a patient with early diagnosed cystinosis who presented with nephrogenic diabetes insipidus in addition to proximal tubular dysfunction. Another feature in this patient was abnormally low serum concentration of 24,25 dihydroxy vitamin D3 (24,25(OH)2D3) with normal 25 hydroxy vitamin D3 (25(OH)D3) and relatively low 1,25 dihydroxy vitamin D3 (1,25(OH)2D3).
Plasma and urine free and acyl carnitine were measured in 19 children with nephropathic cystinosis and renal Fanconi syndrome. Each patient exhibited a deficiency of plasma free carnitine (mean 11.7 +/- 4.0 [SD] nmol/ml) compared with normal control values (42.0 +/- 9.0 nmol/ml) (P less than 0.001). Mean plasma acyl carnitine in the cystinotic subjects was normal. Four subjects with Fanconi syn...
BACKGROUND/AIMS Nephropathic cystinosis (NC) is a severe systemic disease and cysteamine improves its prognosis. Lysosomal cystine accumulation is the hallmark of cystinosis and is regarded as the primary defect due to mutations in the CTNS gene. However, there is great evidence that cystine accumulation itself is not responsible for all abnormalities observed in NC. Studies have demonstrated a...
Background: In earlier studies, we found that children and adults with nephropathic cystinosis often have significant difficulty with visual spatial skills, and that this in turn can lead to academic difficulties, particularly with math. Earlier studies by Bernhard and Major (2005) and Temple et al. (2003) had demonstrated that a computerized program of gradually increasing difficulty could hel...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید