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City New York / Leuven / Amsterdam / Darmstadt / / Company deletion LC / Sigma-Aldrich / Elsevier Inc. / Merck / Corning Incorporated / Hess / / Continent Europe / / Country Germany / Netherlands / Belgium / United States / Australia / United Kingdom / / / Event Man-Made Disaster / / Facility National Human Genome Research Institute / University Medical Center Groningen / University Hospitals Leuven / VU University Medical Center / / / IndustryTerm microarray technology / / MedicalCondition polyuria / photophobia / nephropathic cystinosis / nephropatic infantile cystinosis / disorder / autosomal recessive lysosomal storage disease / MS / Introduction Cystinosis / Neonatal cystinosis / disease / cystinosis / hypothyroidism / hypophosphatemic rickets / previously diagnosed cystinosis / well-treated nephropathic cystinosis / renal tubular Fanconi syndrome / inborn errors of metabolism / hypokalemia / Dutch infantile nephropathic cystinosis / nephropathic cystinosis gene / dehydration / / Organization VU University Medical Center / National Human Genome Research Institute / Department of Clinical Chemistry / USA Department of Pediatric Nephrology / Metabolic Unit / / Person G. Naulaers / Nat / V. Cossey / E. Cornelissen / Y. Anikster / V / Serkan Ceyhan / Subjects Controls / / Position Corresponding author / processed using Applied Biosystems Analyst / / Product Cystagon / / ProvinceOrState New Mexico / / Region Northern Europe / / Technology transplantation / Human Genome / microarray technology / CAD / / SocialTag 
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: Implications for diagnostics and neonatal screening