Evidence for treatable inborn errors of metabolism cohort of 187 greek patients with autism spectrum (ASD)

Frontiers in Human Neuroscience

Volumn 7, Issue DEC, 2013, Pages

  Spilioti, Martha ^a   Evangeliou, Athanasios E ^a   Tramma, Despoina ^a   Theodoridou, Zoe ^b   Metaxas, Spyridon ^a   Michailidi, Eleni ^c   Bonti, Eleni ^a   Frysira, Helen ^d   Haidopoulou, A ^a   Asprangathou, Despoina ^a   Tsalkidis, Aggelos J ^e   Kardaras, Panagiotis ^a   Wevers, Ron A ^f   Jakobs, Cornelis ^g   Michael Gibson, K ^h  

^a ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^b St Luke's Hospital   (Greece)

^c UNIVERSITY OF CRETE   (Greece)

^d UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^e DEMOCRITUS UNIVERSITY OF THRACE   (Greece)

^f RUNMC   (Netherlands)

^g VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^h WASHINGTON STATE UNIVERSITY   (United States)

Author keywords

3 hydroxyisovaleric acid; Autism; Biotin; Inborn errors of metabolism; Ketogenic diet; Lesch nyhan disease; Phenylketonuria; Succinic semialdehyde dehydrogenase deficiency

Indexed keywords

3 HYDROXYBUTYRIC ACID; 3 HYDROXYISOVALERIC ACID; BIOLOGICAL MARKER; BIOTIN; CITRIC ACID; ISOVALERIC ACID; LACTIC ACID; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTISM; CHILD; COHORT ANALYSIS; CONSANGUINITY; DIFFERENTIAL DIAGNOSIS; DRUG BLOOD LEVEL; DRUG URINE LEVEL; ELECTROENCEPHALOGRAM; FEMALE; GLUCOSE TOLERANCE TEST; GREECE; HUMAN; INBORN ERROR OF METABOLISM; KETOGENESIS; KETOGENIC DIET; LACTATE BLOOD LEVEL; LESCH NYHAN SYNDROME; MAJOR CLINICAL STUDY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENYLKETONURIA; PRESCHOOL CHILD; SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; URINARY EXCRETION; VITAMIN SUPPLEMENTATION;

EID: 84891649887     PISSN: 16625161     EISSN: None     Source Type: Journal    
DOI: 10.3389/fnhum.2013.00858     Document Type: Article

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