Classical galactosemia in Estonia: Selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients

Journal of Inherited Metabolic Disease

Volumn 33, Issue 2, 2010, Pages 175-176

  Õunap, Katrin ^a,b   Joost, Kairit ^d,e   Temberg, Triinu ^c   Krabbi, Külliki ^f   Tõnisson, Neeme ^a,b  

^a TARTU UNIVERSITY HOSPITAL   (Estonia)

^b UNIVERSITY OF TARTU   (Estonia)

^c Asper Biotech   (Estonia)

^d Faculty of Medicine   (Estonia)

^e TALLINN CHILDREN S HOSPITAL   (Estonia)

^f Central Laboratory of Health Protection Inspectorate   (Estonia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ALLELE; BLOOD ANALYSIS; CLASSICAL GALACTOSEMIA; CLINICAL FEATURE; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; ESTONIA; EXON; FAILURE TO THRIVE; GALACTOSEMIA; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HEPATOMEGALY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOSPITALIZATION; HUMAN; INCIDENCE; JAUNDICE; LETHARGY; LETTER; LIVE BIRTH; NEWBORN; NEWBORN SCREENING; PHENOTYPE; URINALYSIS; VOMITING;

ESTONIA; GALACTOSEMIAS; HOMICIDE; HUMANS; INCIDENCE; INFANT, NEWBORN; NEONATAL SCREENING; PHENOTYPE; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 77953232790     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9045-2     Document Type: Letter

References (3)

1. AM Bosch 2006 Classical galactosaemia revisited J Inherit Metab Dis 29 516 525 10.1007/s10545-006-0382-0 1:CAS:528:DC%2BD28Xnsl2ju7k%3D 16838075 (Pubitemid 44193265)
2. FR Calderon AR Phansalkar DK Crockett M Miller R Mao 2007 Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene Hum Mutat 28 939 943 10.1002/humu.20544 1:CAS:528:DC%2BD2sXhtlWjs7vO 17486650 (Pubitemid 47519385)
3. JG Loeber 2007 Neonatal screening in Europe; the situation in 2004 J Inherit Metab Dis 30 430 438 10.1007/s10545-007-0644-5 17616847 (Pubitemid 47377038)