Two novel glucose-6-phosphate dehydrogenase variants found in newborn mass-screening for galactosaemia

European Journal of Pediatrics

Volumn 160, Issue 2, 2001, Pages 105-108

  Okano, Yoshiyuki ^a   Fujimoto, Akie ^b   Miyagi, Tomiko ^b   Hirono, Akira ^c   Miwa, Shiro ^c   Niihira, Shizuhiro ^d   Hirokawa, Hidetetsu ^a   Yamano, Tsunekazu ^a  

^a OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Osaka City Environment and Public Health Association   (Japan)

^c Okinaka Memorial Institute for Medical Research   (Japan)

^d Osaka Prefecture University   (Japan)

Author keywords

Galactosaemia; Galactose 1 phosphate uridyltransferase; Glucose 6 phosphate dehydrogenase; Newborn mass screening

Indexed keywords

ENZYME VARIANT; ERYTHROCYTE ENZYME; GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; PHOSPHOGLUCOMUTASE; PHOSPHOGLUCONATE DEHYDROGENASE;

ARTICLE; BEUTLER SPOT TEST; CASE REPORT; ENZYME ACTIVITY; ENZYME ASSAY; GALACTOSEMIA; HEMOLYSIS; HUMAN; MALE; MASS SCREENING; MISSENSE MUTATION; NEWBORN; NEWBORN SCREENING; OXIDATIVE STRESS; PRIORITY JOURNAL; QUANTITATIVE ASSAY; X CHROMOSOME RECESSIVE DISORDER;

GALACTOSEMIAS; GLUCOSEPHOSPHATE DEHYDROGENASE DEFICIENCY; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; NEONATAL SCREENING; PEDIGREE;

EID: 0035099157     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310000652     Document Type: Article

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