Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency

Clinical Genetics

Volumn 77, Issue 3, 2010, Pages 249-257

  Leuzzi, V ^a   Carducci, C ^a,a   Pozzessere, S ^a   Burlina, A ^b   Cerone, R ^c   Concolino, D ^d   Donati, M A ^e   Fiori, L ^f   Meli, C ^g   Ponzone, A ^h   Porta, F ^h   Strisciuglio, P ^d   Antonozzi, I ^a   Blau, N ⁱ  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^e UNIVERSITY OF FLORENCE   (Italy)

^f UNIVERSITY OF MILAN   (Italy)

^g UNIVERSITY OF CATANIA   (Italy)

^h UNIVERSITY OF TURIN   (Italy)

ⁱ UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Early onset Parkinsonism; Movement disorders in children; Neurotransmitters; PKU; PTPS deficiency; PTS

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; 6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; AMINE; NEUROTRANSMITTER;

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY; ADOLESCENT; ADULT; ARTICLE; BIOCHEMISTRY; CEREBROSPINAL FLUID EXAMINATION; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; DYSTONIA; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HUMAN; INFANT; ITALY; MALE; NEUROLOGIC DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; RETROSPECTIVE STUDY;

ADOLESCENT; ADULT; BIOGENIC AMINES; BRAIN DISEASES, METABOLIC, INBORN; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; NERVOUS SYSTEM DISEASES; PHENYLKETONURIAS; PHOSPHORUS-OXYGEN LYASES; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 77950102318     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01306.x     Document Type: Article

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