Misleading behavioural phenotype with adenylosuccinate lyase deficiency

European Journal of Human Genetics

Volumn 17, Issue 1, 2009, Pages 133-136

  Gitiaux, Cyril ^a   Ceballos Picot, Irène ^b   Marie, Sandrine ^c   Valayannopoulos, Vassili ^a   Rio, Marlène ^b   Verrieres, Séverine ^d   Benoist, Jean François ^e   Vincent, Marie Françoise ^c   Desguerre, Isabelle ^a   Bahi Buisson, Nadia ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^d CENTRE HOSPITALIER VICTOR DUPOUY   (France)

^e HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DERIVATIVE; ADENYLOSUCCINATE LYASE; CYTOSINE; METHIONINE; THREONINE;

ANGER; APRAXIA; ARTICLE; ATTENTION DISTURBANCE; BEHAVIOR DISORDER; BRAIN ATROPHY; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; ENZYME DEFICIENCY; EXON; FEMALE; GROWTH RETARDATION; HAPPINESS; HAPPY PUPPET SYNDROME; HUMAN; HYPERACTIVITY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGICAL LAUGHTER; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; SCHOOL CHILD; SEIZURE; SPEECH DISORDER; STEREOTYPY;

ADENOSINE; ADENYLOSUCCINATE LYASE; AMINOIMIDAZOLE CARBOXAMIDE; ANGELMAN SYNDROME; BEHAVIOR; CHILD; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CONSANGUINITY; FEMALE; HUMANS; MENTAL RETARDATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; RIBONUCLEOTIDES; SEQUENCE ANALYSIS, DNA; STEREOTYPED BEHAVIOR;

EID: 57649214096     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.174     Document Type: Article

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