遇见数据集

Patient demographics.

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NIAID Data Ecosystem2026-03-08 收录
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Demographics for all patients, combining those seen in routine clinic visits and those hospitalized for metabolic crises, are shown. Abbreviations: dGK = deoxyguanosine kinase deficiency; FA = Friedreich ataxia; KSS = Kearns-Sayre syndrome; MELAS = mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; MLASA = mitochondrial myopathy, lactic acidosis and sideroblastic anemia; PDH = pyruvate dehydrogenase deficiency; POLG1 = polymerase γ deficiency; PS = Pearson syndrome; RRM2B = ribonucleotide reductase M2 B deficiency; SURF1 = surf-1 deficiency; TK2 = thymidine kinase deficiency.

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2014-06-18
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