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CTNS (gene) — Cystinosin, lysosomal cystine transporter Identifiers Symbols CTNS; CTNS LSB; PQLC4 External IDs … Wikipedia
Abderhalden-Kaufmann-Lignac syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICD9|270.0 ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Abderhalden Kaufmann Lignac syndrome, also called Abderhalden Lignac Kaufmann disease or… … Wikipedia
Cystinosis — Classification and external resources Chemical structure of cystine formed from L cysteine (under biological conditions) ICD 10 E … Wikipedia
Chromosome 17 (human) — Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 81 million base pairs (the building material of DNA) and represents between 2.5 and 3 % of the… … Wikipedia
metabolic disease — ▪ pathology Introduction any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… … Universalium
cystinosis — A lysosomal storage disorder with various forms, all with autosomal recessive inheritance. The nephropathic form of early childhood is characterized by widespread deposits of cystine crystals throughout the body, including the bone … Medical dictionary
