Study of inborn errors of metabolism in urine from patients with unexplained mental retardation

Journal of Inherited Metabolic Disease

Volumn 33, Issue 1, 2010, Pages 1-7

  Sempere, Angela ^a   Arias, Angela ^b   Farré, Guillermo ^b   García Villoria, Judith ^b   Rodríguez Pombo, Pilar ^c   Desviat, Lurdes R ^c   Merinero, Begoña ^c   García Cazorla, Angels ^a   Vilaseca, Maria A ^d   Ribes, Antonia ^b   Artuch, Rafael ^d   Campistol, Jaume ^a  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^d HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; ADENYLOSUCCINATE LYASE; CREATINE; PURINE; PYRIMIDINE;

ADENYLOSUCCINATE LYASE DEFICIENCY; ADOLESCENT; ADULT; AGED; ARTICLE; AUTISM; BIOCHEMISTRY; CEREBRAL CREATINE DEFICIENCY SYNDROME; CHILD; COHORT ANALYSIS; EPILEPSY; FEMALE; GENETIC COUNSELING; HUMAN; INBORN ERROR OF METABOLISM; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MENTAL DISEASE; MORBIDITY; MORTALITY; MOTOR DYSFUNCTION; NEWBORN SCREENING; PHENYLKETONURIA; URINALYSIS;

ADENYLOSUCCINATE LYASE; ADOLESCENT; ADULT; AGED; CARNITINE; CHILD; CHILD, PRESCHOOL; CHROMIUM; COHORT STUDIES; CREATINE; FEMALE; HUMANS; MALE; MENTAL RETARDATION; METABOLISM, INBORN ERRORS; MIDDLE AGED; PHENYLKETONURIAS; PURINES; PYRIMIDINES;

EID: 77649235959     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-9004-y     Document Type: Article

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