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Volumn 78, Issue 7, 2011, Pages 874-876
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Erratum: A case of classical galactosemia: Identification and characterization of 3 distinct mutations in galactose-1-phosphate Uridyl Transferase (GALT) gene in a single family (The Indian Journal of Pediatrics DOI: 10.1007/s12098-010-0348-y);A case of classical galactosemia: Identification and characterization of 3 distinct mutations in galactose-1-phosphate uridyl transferase (GALT) gene in a single family
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Author keywords
Galactosemia; Galatose 1 phosphate uridyl transferase (GALT) gene; Mutations; RFLP (restriction fragment length polymorphism); SSCP (single stranded conformational polymorphism)
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Indexed keywords
ALANINE AMINOTRANSFERASE;
ALKALINE PHOSPHATASE;
ASPARTATE AMINOTRANSFERASE;
BILIRUBIN;
DNA;
GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;
HEMOGLOBIN;
ABDOMINAL DISTENSION;
ALANINE AMINOTRANSFERASE BLOOD LEVEL;
ALKALINE PHOSPHATASE BLOOD LEVEL;
ARTICLE;
ASPARTATE AMINOTRANSFERASE BLOOD LEVEL;
ASYMPTOMATIC DISEASE;
BILIRUBIN BLOOD LEVEL;
CASE REPORT;
CATARACT;
CHOLESTASIS;
DNA SEQUENCE;
ENZYME ACTIVITY;
ENZYME BLOOD LEVEL;
EXON;
FAMILY STUDY;
FATHER;
FEMALE;
GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE GENE;
GALACTOSEMIA;
GENE;
GENE MUTATION;
GENOTYPE;
HEMOGLOBIN BLOOD LEVEL;
HEMOLYSATE;
HEPATOSPLENOMEGALY;
HETEROZYGOTE;
HOMOZYGOSITY;
HUMAN;
HYDROCEPHALUS;
HYPOALBUMINEMIA;
INDIAN;
INFANT FEEDING;
LETHARGY;
LEUKOCYTOSIS;
MOTHER;
NEUTROPHIL;
NEWBORN;
NEWBORN JAUNDICE;
NEWBORN SCREENING;
NONSENSE MUTATION;
PACKED ERYTHROCYTE LYSATE;
PATERNAL GRANDFATHER;
PATERNAL GRANDMOTHER;
PHYSICAL EXAMINATION;
POLYMERASE CHAIN REACTION;
PRIMIGRAVIDA;
RELATIVE;
RESTRICTION FRAGMENT LENGTH POLYMORPHISM;
SINGLE STRAND CONFORMATION POLYMORPHISM;
SMALL FOR DATE INFANT;
SYMPTOM;
ULTRASOUND;
UMBILICUS;
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EID: 79961170772
PISSN: 00195456
EISSN: 09737693
Source Type: Journal
DOI: 10.1007/s12098-011-0498-6 Document Type: Erratum |
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Times cited : (5)
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References (7)
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