TY  - GEN
AU  - van de Ven,Steffi
AU  - Gardeitchik,Thatjana
AU  - Kouwenberg,Dorus
AU  - Kluijtmans,Leo
AU  - Wevers,Ron
AU  - Morava,Eva
TI  - Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia
SN  - 1573-2665
PY  - 2015///0220
KW  - 1-Pyrroline-5-Carboxylate Dehydrogenase
KW  - deficiency
KW  - Adenosine Triphosphate
KW  - biosynthesis
KW  - Adolescent
KW  - Amino Acid Metabolism, Inborn Errors
KW  - complications
KW  - Biopsy
KW  - Child
KW  - Female
KW  - Humans
KW  - Male
KW  - Mitochondria
KW  - metabolism
KW  - Mitochondrial Diseases
KW  - diagnosis
KW  - Muscles
KW  - pathology
KW  - Proline Oxidase
KW  - Treatment Outcome
KW  - Vitamin B 6
KW  - administration & dosage
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s10545-013-9660-9
ER  -