G Nesterova, W Gahl - Pediatric Nephrology, 2008 - Springer Abstract Cystinosis is a rare autosomal recessive disorder due to impaired transport of cystine
out of cellular lysosomes. Its estimated incidence is 1 in 100,000 live births. End-stage renal
disease (ESRD) is the most prominent feature of cystinosis and, along with dehydration ... Cited by 7 - Related articles - BL Direct - All 3 versions
MH Vaisbich, VH Koch - Nephron Clinical Practice, 2009 - content.karger.com Introduction: The Brazilian Multicenter Nephropathic Study Group, founded in 1999, is currently
composed of 16 pediatric nephrology units, which are coordinated by the Pediatric Nephrology
Unit of Instituto da Criança - HCFMUSP. This Study Group intends to better know our ... Related articles - All 3 versions
WA Gahl - Journal of Inherited Metabolic Disease, 2008 - Springer Summary Sir Archibald Garrod's concept of chemical individuality introduced a century ago provided
the basis for the entire discipline of inborn errors of metabolism. Human disorders are defined
by variation in disease-causing mutations, environmental influen- ces, genetic factors ... Related articles - All 3 versions
E Elenberg - members.medscape.com Three types of cystinosis have been described based on the age at diagnosis and magnitude
of cellular cystine deposition: infantile onset, adolescent onset, and adult onset. Patients with
the infantile nephropathic form of cystinosis (the most common and the most severe) ... Related articles - Cached - All 3 versions
A Emadi, KH Burns, B Confer, MJ Borowitz, MB … - Acta Haematol, 2008 - content.karger.com Pancytopenia is an uncommon manifestation of cystinosis, a congenital lysosomal storage
disease. We describe a 34-year-old patient with nephropathic cystinosis with multisystem involvement
who developed progressive bone marrow failure after renal transplantation. Bone marrow ... Related articles - All 5 versions
MHVVH Koch - Nephron Clin Pract, 2010 - content.karger.com HCFMUSP/SP and 3 at the Santa Casa/SP; the remaining patients are followed at the Instituto
da Criança and at their respective doctors' offices in different nephrology services in Brazil. Of
these patients, 23/102 (22.5%) have normal renal function, 19/102 (18.6%) are in chronic ...
R Dohil, M Fidler, JA Gangoiti, F Kaskel, JA … - The Journal of Pediatrics, 2009 - Elsevier Seven children with cystinosis (mean age, 11.8 years; range, 8-17 years) who received cysteamine
and enteric-release cysteamine (mean dose, 45 and 28.8 mg/kg body weight/day,
respectively) had mean WBC cystine levels of 0.7 ± 0.3 and 0.41 ± 0.22 nmol ... Related articles - All 2 versions
WA Gahl - Springer Nephropathic cystinosis (1–3) deserves a special place in the annals of clinical medicine as
the first treatable lysosom- al storage disease. The pathophysiology itself, based upon the formation
of cystine crystals within the lysosomes of cells, is remarkable. The presence of cystine ... Related articles
[CITATION] Last literature review version 17.1: Thu Jan 01 00: 00: 00 GMT 2009| This topic last …
A Xaidara, EM Karavitakis, K Kosma, F Emma, E … - Journal of Inherited … - Springer Summary 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 enzyme ... Related articles - All 2 versions
