The molecular basis of cystathionine β-synthase deficiency in Dutch patients with homocystinuria: Effect of CBS genotype on biochemical and clinical phenotype and on response to treatment

American Journal of Human Genetics

Volumn 65, Issue 1, 1999, Pages 59-67

  Kluijtmans, Leo A J ^a,c   Boers, Godfried H J ^a   Kraus, Jan P ^b   Van Den Heuvel, Lambert P W J ^a   Cruysberg, Johan R M ^a   Trijbels, Frans J M ^a   Blom, Henk J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Children's Hospital Colorado   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETAINE; CYSTATHIONINE BETA SYNTHASE; CYSTEINE; DISULFIDE; FOLIC ACID; HOMOCYSTEINE; HOMOCYSTINE; METHIONINE; PYRIDOXINE;

ADOLESCENT; ADULT; ARTERIOSCLEROSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARDIOVASCULAR RISK; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ECTOPIA LENTIS; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; HOMOCYSTINURIA; HOMOZYGOTE; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; NETHERLANDS; PHENOTYPE; PRIORITY JOURNAL; SKELETON MALFORMATION; THROMBOSIS;

EID: 0033365298     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302439     Document Type: Article

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