Neonatal screening, clinical features and genetic testing for galactosemia [3]

Genetics in Medicine

Volumn 7, Issue 3, 2005, Pages 211-212

  Zaffanello, Marco ^a   Zamboni, Giorgio ^a   Schadewaldt, Peter ^b   Borgiani, Paola ^c   Novelli, Giuseppe ^c  

^a UNIVERSITY OF VERONA   (Italy)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL FEATURE; GALACTOSEMIA; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HETEROZYGOSITY; HUMAN; ITALY; LETTER; MASS SCREENING; METABOLIC DISORDER; NEWBORN; NEWBORN SCREENING;

FEMALE; GALACTOSEMIAS; GENETIC SCREENING; GENOTYPE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING; SYNDROME; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 16444369757     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000157127.14267.DB     Document Type: Letter

References (4)

1. Shah V, Friedman S, Moore AM, Platt BA, Feigenbaum ASJ. Selective screening for galactosemia: an alternative approach. Acta Paediatr 2001;90:948-949.
2. Tyfield L, Reichardt I, Fridovich-Keil I, Croke DT, Elsas LJ II, Strobl W et al. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat 1999;13:417-430.
3. Reich S, Hennermann J, Vetter B, Neumann LM, Shin YS, Soling A et al. An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening. Pediatr Res 2002;51:598-601.
4. Schweitzer-Krantz S. Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia. Eur J Pediatr 2003;162:S50-S53.