Two Greek siblings with sepiapterin reductase deficiency

Molecular Genetics and Metabolism

Volumn 94, Issue 4, 2008, Pages 403-409

  Verbeek, Marcel M ^a,b   Willemsen, Michel A A P ^a,b   Wevers, Ron A ^a,b   Lagerwerf, Aart J ^a   Abeling, Nico G G M ^c   Blau, Nenad ^d   Thöny, Beat ^d   Vargiami, Euthymia ^e   Zafeiriou, Dimitrios I ^e  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY   (Netherlands)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^e ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

Author keywords

Cerebrospinal fluid; Enzyme activity; Inherited disorders of metabolism; Neurotransmitters; Sepiapterin reductase; Tetrahydrobiopterin

Indexed keywords

4 HYDROXY 3 METHOXYPHENYLETHYLENE GLYCOL; 5 HYDROXYINDOLEACETIC ACID; 5 HYDROXYTRYPTOPHAN; ADRENALIN; BIOPTERIN; DOPAMINE; HOMOVANILLIC ACID; NEOPTERIN; NORADRENALIN; PROLACTIN; VANILMANDELIC ACID;

ARTICLE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GREECE; HUMAN; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROLACTIN BLOOD LEVEL; SCHOOL CHILD; SEPIAPTERIN REDUCTASE DEFICIENCY; SIBLING RELATION; URINALYSIS;

ALCOHOL OXIDOREDUCTASES; BIOSYNTHETIC PATHWAYS; CHILD; FEMALE; FIBROBLASTS; GREECE; HOMOVANILLIC ACID; HUMANS; HYDROXYINDOLEACETIC ACID; METABOLISM, INBORN ERRORS; MUTATION; NEUROTRANSMITTER AGENTS; PTERINS; SIBLINGS;

EID: 46949098161     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.04.003     Document Type: Article

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