Early speech delay and hepatitis as presenting signs of homocystinuria

Journal of Pediatric Gastroenterology and Nutrition

Volumn 33, Issue 2, 2001, Pages 221-223

  Mack, Cara L ^a,c   Emerick, Karan M ^a   Kovarik, Paula ^b   Charrow, Joel ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c CHILDREN'S MEMORIAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETAINE; CYSTATHIONINE BETA SYNTHASE; METHIONINE; PYRIDOXINE;

APRAXIA; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIAGNOSTIC PROCEDURE; DIET RESTRICTION; DISEASE COURSE; DYSPRAXIA; HEPATITIS; HOMOCYSTINURIA; HUMAN; MALE; PRIORITY JOURNAL; SPEECH DISORDER; TREATMENT OUTCOME;

CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; HEPATITIS; HOMOCYSTINURIA; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; LIVER; MALE; METHIONINE; MICROSCOPY, ELECTRON;

EID: 0034861110     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005176-200108000-00026     Document Type: Article

References (10)

1. Disorders of transsulfuration
2. Clinical aspects of cystathionine beta-synthase deficiency: How wide is the spectrum?
3. Electron microscopic changes in hepatocytes of patients with homocystinuria
4. Prevalence of homocystinuria among the mentally retarded: Evaluation of a specific screening test
5. Developmental disabilities and chronic illness: An overview
6. Homocystinuria. A recently discovered cause of mental defect and cerebrovascular thrombosis
7. Neurological manifestations of homocystinuria
8. Dystonia in homocystinuria
9. The long term outcome in homocystinuria
10. Strategies for the treatment of cystathionine beta-synthase deficiency: The experience of the Willink Biochemical Genetics Unit over the past 30 years