Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia

Journal of Inherited Metabolic Disease

Volumn 37, Issue 3, 2014, Pages 383-390

  Van De Ven, Steffi ^a   Gardeitchik, Thatjana ^a   Kouwenberg, Dorus ^a   Kluijtmans, Leo ^a   Wevers, Ron ^a   Morava, Eva ^a,b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; AMINO ACID; ANTICONVULSIVE AGENT; BACLOFEN; CARBOXYLIC ACID; CREATINE PHOSPHATE; LAMOTRIGINE; MITOCHONDRIAL ENZYME; OXCARBAZEPINE; PHENOBARBITAL; PROLINE; PYRIDOXINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RIBOFLAVIN; VALPROIC ACID; PROLINE DEHYDROGENASE;

ABSENCE; ADOLESCENT; ADULT; AMINO ACID ANALYSIS; AMINO ACID BLOOD LEVEL; ANTICONVULSANT THERAPY; ANXIETY; ARTICLE; BEHAVIOR DISORDER; BLOOD SAMPLING; BRAIN DISEASE; CHILD; CHILD BEHAVIOR CHECKLIST; CLINICAL ARTICLE; CLINICAL FEATURE; CONCENTRATION LOSS; CONVULSION; DEVELOPMENTAL DISORDER; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; EPILEPTIC STATE; FEMALE; FEVER; FIBROBLAST; HALLUCINATION; HEMIPARESIS; HUMAN; HYPERPROLINEMIA; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; LACTATE BLOOD LEVEL; LANGUAGE DELAY; MALE; MENTAL DEFICIENCY; MENTAL DISEASE; MITOCHONDRIAL RESPIRATION; MORBIDITY; MUSCLE BIOPSY; MUSCLE CRAMP; OUTCOME ASSESSMENT; OXIDATIVE PHOSPHORYLATION; OXYGEN CONSUMPTION; PERVASIVE DEVELOPMENTAL DISORDER NOT OTHERWISE SPECIFIED; PSYCHOLOGIC ASSESSMENT; PSYCHOMOTOR DEVELOPMENT; PSYCHOMOTOR DISORDER; SCHOOL CHILD; SEIZURE; SKIN BIOPSY; SPECIAL EDUCATION; SPEECH DELAY; TONIC CLONIC SEIZURE; UNSTEADY GAIT; YOUNG ADULT; AMINO ACID METABOLISM, INBORN ERRORS; BIOPSY; BIOSYNTHESIS; CASE REPORT; COMPLICATION; DEFICIENCY; METABOLISM; MITOCHONDRIAL DISEASES; MITOCHONDRION; MUSCLE; PATHOLOGY; PSYCHOLOGY; TREATMENT OUTCOME;

ADENOSINE TRIPHOSPHATE; ADOLESCENT; AMINO ACID METABOLISM, INBORN ERRORS; BIOPSY; CHILD; FEMALE; HUMANS; MALE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUSCLES; PROLINE OXIDASE; TREATMENT OUTCOME; VITAMIN B 6;

EID: 84904188432     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9660-9     Document Type: Article

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