[Pearson syndrome. Case report]. [electronic resource]
Producer: 20111206Description: 261-7 p. digitalISSN:- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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