Transaldolase deficiency in a two-year-old boy with cirrhosis

Molecular Genetics and Metabolism

Volumn 94, Issue 2, 2008, Pages 255-258

  Wamelink, Mirjam M ^a   Struys, Eduard A ^a   Salomons, Gajja S ^a   Fowler, Darren ^b   Jakobs, Cornelis ^a   Clayton, Peter T ^b  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Anemia; Liver fibrosis; Pentose phosphate pathway; Transaldolase deficiency

Indexed keywords

ALKALINE PHOSPHATASE; BILIRUBIN; HEMOGLOBIN; TRANSALDOLASE;

ALKALINE PHOSPHATASE BLOOD LEVEL; ANEMIA; ARTICLE; ASSISTED VENTILATION; BRONCHIOLITIS; CASE REPORT; CLINICAL FEATURE; CYTOMEGALOVIRUS; ERYTHROCYTE TRANSFUSION; FETUS DISTRESS; HEMOGLOBIN BLOOD LEVEL; HEPATOSPLENOMEGALY; HUMAN; HUMAN TISSUE; INBORN ERROR OF METABOLISM; KIDNEY TUBULE DISORDER; LABORATORY TEST; LIQUID CHROMATOGRAPHY; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER FUNCTION TEST; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; RICKETS; TANDEM MASS SPECTROMETRY; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA; TRANSALDOLASE DEFICIENCY; VITAMIN D DEFICIENCY;

ADOLESCENT; CHILD, PRESCHOOL; DEAFNESS; HUMANS; LIVER CIRRHOSIS; MALE; METABOLISM, INBORN ERRORS; MUTATION, MISSENSE; PENTOSE PHOSPHATE PATHWAY; RICKETS; TRANSALDOLASE; URINE;

EID: 43349101476     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.01.011     Document Type: Article

References (10)

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