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Cystinosis: Symptoms, Treatment Outlook - Cleveland Clinic Cystinosis is a rare genetic condition that causes an amino acid called cystine to accumulate in your cells An excess of cystine in your cells can cause crystals to form that build up and then cause problems in your organs Cystinosis most often affects your kidneys and eyes
Cystinosis - Wikipedia Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of cystine, the oxidized dimer of the amino acid cysteine [3] It is a genetic disorder that follows an autosomal recessive inheritance pattern
Cystinosis 101 Cystinosis is a rare genetic, metabolic, lysosomal storage disease caused by mutations in the CTNS gene on chromosome 17p13 which results in an abnormal accumulation of the amino acid cystine in various organs and tissues of the body such as the kidneys, eyes, muscles, pancreas and brain
Nephropathic Cystinosis | National Kidney Foundation Cystinosis is a disease caused by an abnormal buildup of a certain amino acid called cystine It is a rare, but serious disease with a lifelong impact, and can affect many parts of the body
Cystinosis - Symptoms, Causes, Treatment - NORD Cystinosis is a rare, multisystem genetic disorder characterized by the accumulation of an amino acid called cystine in different tissues and organs of the body including the kidneys, eyes, muscles, liver, pancreas and brain
What is Cystinosis? - Cystinosis Research Foundation Cystinosis is a rare, genetic disease that affects 1 in 100,000-200,000 live births in the United States It is a lysosome storage disorder caused by a mutation in the CTNS gene on the 17th chromosome, which encodes a protein called “cystinosin ”