Negative screening tests in classical galactosaemia caused by S135L homozygosity

Journal of Inherited Metabolic Disease

Volumn 32, Issue 3, 2009, Pages 412-415

  Crushell, Ellen ^a   Chukwu, J ^a   Mayne, P ^a   Blatny, J ^a   Treacy, E P ^a  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOTRANSFERASE; FOLIC ACID; GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; IRON;

CASE REPORT; CATARACT; CHILD; CONFERENCE PAPER; DEVELOPMENTAL DISORDER; DIET THERAPY; DIETARY INTAKE; ENZYME ACTIVITY; FAILURE TO THRIVE; FOLLOW UP; GALACTOSEMIA; GENE MUTATION; GENOTYPE; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; IRELAND; IRON THERAPY; MALE; MICROCEPHALY; MILK; NEWBORN SCREENING; NIGERIA; PATIENT REFERRAL; PHENOTYPE; PRESCHOOL CHILD; SCREENING TEST;

AMINO ACID SUBSTITUTION; FALSE NEGATIVE REACTIONS; GALACTOSEMIAS; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; LEUCINE; MALE; NEONATAL SCREENING; SERINE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 67349171054     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1081-4     Document Type: Conference Paper

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