Cammarata-Scalisi, Francisco

[Pearson syndrome. Case report]. [electronic resource] - Investigacion clinica Sep 2011 - 261-7 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0535-5133


Acyl-CoA Dehydrogenase, Long-Chain--deficiency
Anemia, Sideroblastic--blood
Congenital Bone Marrow Failure Syndromes
DNA, Mitochondrial--genetics
Diarrhea, Infantile--etiology
Exocrine Pancreatic Insufficiency--etiology
Fatal Outcome
Female
Humans
Hypokalemia--etiology
Infant
Lipid Metabolism, Inborn Errors
Mitochondrial Diseases--blood
Muscular Diseases
Phenotype
Referral and Consultation
Sequence Analysis, DNA
Sequence Deletion