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Pearson syndrome is very rare, less than hundred cases have been reported in medical literature worldwide.
Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction.
Such mitochondrial genome alterations have been correlated with extremely severe human pathologies such as the Kearns-Sayre or Pearson syndromes (10-13).
Pearson Syndrome research study of Inherited Bone Marrow Failure Syndromes (IBMFS)