Galactosemia: When is it a newborn screening emergency?

Molecular Genetics and Metabolism

Volumn 106, Issue 1, 2012, Pages 7-11

  Berry, Gerard T ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

ACT sheet; Galactose 1 phosphate; Galactosemia; GALT genotype; Newborn screening

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CREATININE; FRESH FROZEN PLASMA; GALACTITOL; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; LACTOSE;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; AROUSAL; ARTIFICIAL MILK; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BLEEDING TENDENCY; BRAIN DISEASE; CASE REPORT; CELL SWELLING; CYTOTOXICITY; DETERIORATION; DIET THERAPY; DISORDERS OF CARBOHYDRATE METABOLISM; DRIED BLOOD SPOT TESTING; ENZYME ACTIVITY; FEEDING BEHAVIOR; GALACTOSEMIA; HEPATOMEGALY; HUMAN; HYPERBILIRUBINEMIA; HYPERVENTILATION; HYPOFIBRINOGENEMIA; INFANT; JAUNDICE; LETHARGY; MALE; MEDICAL DECISION MAKING; METABOLIC ACIDOSIS; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PARTIAL THROMBOPLASTIN TIME; PATIENT CODING; PHOTOTHERAPY; PRIORITY JOURNAL; PROTHROMBIN TIME; REVIEW; SOYBEAN MILK; THROMBOCYTOPENIA;

GALACTOSE; GALACTOSEMIAS; GALACTOSEPHOSPHATES; GENOTYPE; HUMANS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING; POLYMORPHISM, GENETIC; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 84860117746     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.03.007     Document Type: Review

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