The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine β-synthase deficiency

Journal of Inherited Metabolic Disease

Volumn 24, Issue 4, 2001, Pages 437-447

  Yap, S ^a   Rushe, H ^a   Howard, P M ^a   Naughten, E R ^a  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; HOMOCYSTEINE; PYRIDOXINE;

ADOLESCENT; ADULT; AGE; AMINO ACID BLOOD LEVEL; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DRUG RESPONSE; ENZYME DEFICIENCY; HOMOCYSTINURIA; HUMAN; INTELLIGENCE; INTELLIGENCE QUOTIENT; MENTAL DEFICIENCY; NEWBORN SCREENING; PATIENT COMPLIANCE; PSYCHOMETRY; SIBLING; STATISTICAL ANALYSIS;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CYSTATHIONINE BETA-SYNTHASE; CYSTINE; DIET; DRUG RESISTANCE; HOMOCYSTINE; HOMOCYSTINURIA; HUMANS; INFANT, NEWBORN; INTELLIGENCE; INTELLIGENCE TESTS; METHIONINE; NEONATAL SCREENING; PATIENT COMPLIANCE; PSYCHOMETRICS; PYRIDOXINE;

EID: 0034828509     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1010525528842     Document Type: Article

References (13)

1. 6-responsiveness
2. Homocystinuria (cystathionine β-synthase deficiency). Results of treatment in late- diagnosed patients
3. Psychological testing for child and adolescent psychiatrists: A review of the past 10 years
4. The natural history of homocystinuria due to cystathionine β-synthase deficiency
5. Disorders of transsulfuration
6. Newborn screening for homocystinuria: Irish and world experience
7. Strategies for the treatment of cystathionine β-synthase deficiency: The experience of the Willink Biochemical Genetics Unit over the past 30 years
8. Homocystinuria due to cystathionine β-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control