Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period

Journal of Medical Investigation

Volumn 46, Issue 3-4, 1999, Pages 186-191

  Chen, Shuli ^a   Ito, Michinori ^a   Saijo, Takahiko ^a   Naito, Etsuo ^a   Kuroda, Yasuhiro ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

Cystathionine Synthase Deficiency; Homocystinuria; Mutation analysis; Neonatal mass screening

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; METHIONINE; PYRIDOXINE;

ADOLESCENT; ARTICLE; BLOOD; CASE REPORT; CHILD; ENZYMOLOGY; ESCHERICHIA COLI; FEMALE; GENETICS; HOMOCYSTINURIA; HUMAN; MALE; METABOLISM; NEWBORN SCREENING; NUCLEAR FAMILY; PEDIGREE; POINT MUTATION;

ADOLESCENT; CHILD; CYSTATHIONINE BETA-SYNTHASE; ESCHERICHIA COLI; FEMALE; HOMOCYSTINURIA; HUMANS; MALE; METHIONINE; NEONATAL SCREENING; NUCLEAR FAMILY; PEDIGREE; POINT MUTATION; PYRIDOXINE;

EID: 0033169961     PISSN: 13431420     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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