Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia. [electronic resource]
Producer: 20150220Description: 383-90 p. digitalISSN:- 1573-2665
- 1-Pyrroline-5-Carboxylate Dehydrogenase -- deficiency
- Adenosine Triphosphate -- biosynthesis
- Adolescent
- Amino Acid Metabolism, Inborn Errors -- complications
- Biopsy
- Child
- Female
- Humans
- Male
- Mitochondria -- metabolism
- Mitochondrial Diseases -- diagnosis
- Muscles -- pathology
- Proline Oxidase -- deficiency
- Treatment Outcome
- Vitamin B 6 -- administration & dosage
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Publication Type: Case Reports; Journal Article
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