Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

Molecular Genetics and Metabolism

Volumn 93, Issue 3, 2008, Pages 295-305

  Jäggi, Leandra ^a   Zurflüh, Marcel R ^a   Schuler, Agnes ^b   Ponzone, Alberto ^c   Porta, Francesco ^c   Fiori, Laura ^d   Giovannini, Marcello ^d   Santer, René ^e   Hoffmann, Georg F ^f   Ibel, Hans ^g   Wendel, Udo ^h   Ballhausen, Diana ⁱ   Baumgartner, Matthias R ^a   Blau, Nenad ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b Buda Children's Hospital   (Hungary)

^c UNIVERSITY OF TURIN   (Italy)

^d UNIVERSITY OF MILAN   (Italy)

^e UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^f UNIVERSITY OF HEIDELBERG   (Germany)

^g Werneck ^*  (Germany)

^h HEINRICH HEINE UNIVERSITY   (Germany)

ⁱ LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

BH4; Biopterin; Neopterin; PKU

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; 5 HYDROXYTRYPTOPHAN; 6 PYRUVOYLTETRAHYDROPTERIN REDUCTASE; ANTICONVULSIVE AGENT; CARBIDOPA PLUS LEVODOPA; DIHYDROPTERIDINE REDUCTASE; ENTACAPONE; FOLINIC ACID; HOMOVANILLIC ACID; METHYLPHENIDATE; NEUROTRANSMITTER; OXIDOREDUCTASE; PHENOBARBITAL; SELEGILINE; TETRAHYDROBIOPTERIN; UNCLASSIFIED DRUG; VALPROIC ACID;

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY; ADOLESCENT; ADULT; ANTICONVULSANT THERAPY; ARTICLE; ATTENTION DEFICIT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CEREBROSPINAL FLUID LEVEL; CHILD; CLINICAL ARTICLE; DIAGNOSTIC VALUE; DIHYDROPTERIDINE REDUCTASE DEFICIENCY; DISEASE SEVERITY; ENZYME DEFICIENCY; EPILEPSY; FEMALE; FOLLOW UP; GROWTH RETARDATION; HUMAN; HYPERPROLACTINEMIA; INTELLIGENCE QUOTIENT; LANGUAGE DISABILITY; MALE; MENTAL DEFICIENCY; MENTAL DEVELOPMENT; MONOTHERAPY; MOTOR DEVELOPMENT; NEUROIMAGING; NEUROLOGIC DISEASE; NEWBORN; NEWBORN DEATH; PHYSICAL DEVELOPMENT; PRIORITY JOURNAL; SEIZURE; TETRAHYDROBIOPTERIN DEFICIENCY; TREATMENT OUTCOME;

ADOLESCENT; ADULT; BIOPTERIN; CHILD; DIHYDROPTERIDINE REDUCTASE; FEMALE; FOLLOW-UP STUDIES; HOMOVANILLIC ACID; HUMANS; HYDROXYINDOLEACETIC ACID; INFANT, NEWBORN; MALE; PHENYLKETONURIAS; PHOSPHORUS-OXYGEN LYASES;

EID: 38849083411     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.10.004     Document Type: Article

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