van de Ven, Steffi <br/><br/>
Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia.  [electronic resource] 

 -  Journal of inherited metabolic disease  May 2014 
 - 383-90 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1573-2665 
<br/><br/><label>Standard No.: </label>10.1007/s10545-013-9660-9  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>1-Pyrroline-5-Carboxylate Dehydrogenase--deficiency<br/>Adenosine Triphosphate--biosynthesis<br/>Adolescent<br/>Amino Acid Metabolism, Inborn Errors--complications<br/>Biopsy<br/>Child<br/>Female<br/>Humans<br/>Male<br/>Mitochondria--metabolism<br/>Mitochondrial Diseases--diagnosis<br/>Muscles--pathology<br/>Proline Oxidase--deficiency<br/>Treatment Outcome<br/>Vitamin B 6--administration & dosage