Transaldolase deficiency: A new cause of hydrops fetalis and neonatal multi-organ disease

Journal of Pediatrics

Volumn 149, Issue 5, 2006, Pages 713-717

  Valayannopoulos, Vassili ^a   Verhoeven, Nanda M ^a   Mention, Karine ^a   Salomons, Gajja S ^a   Sommelet, Danièle ^a   Gonzales, Marie ^a   Touati, Guy ^a   de Lonlay, Pascale ^a   Jakobs, Cornelis ^a   Saudubray, Jean Marie ^a  

^a HÔPITAL SAINT ANTOINE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARABINITOL; ERYTHRITOL; POLYOL; PROTEIN; RIBITOL; TALDO1 PROTEIN; TRANSALDOLASE; UNCLASSIFIED DRUG;

ANEMIA; ARTICLE; BIRTH; CASE REPORT; CONTROLLED STUDY; CUTIS LAXA; DEATH; DISEASE COURSE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FETUS; FETUS HYDROPS; GENE MUTATION; HEMOLYTIC ANEMIA; HEPATOMEGALY; HEPATOSPLENOMEGALY; HUMAN; HYPERTRICHOSIS; INFANT; KIDNEY FAILURE; LIVER FAILURE; LIVER FIBROSIS; MALE; MULTIPLE ORGAN FAILURE; OLIGOHYDRAMNIOS; PARENT; PREGNANCY TERMINATION; PRENATAL PERIOD; PRESCHOOL CHILD; PRIORITY JOURNAL; SPLENOMEGALY; THROMBOCYTOPENIA; URINALYSIS; UROGENITAL TRACT MALFORMATION;

BIOLOGICAL MARKERS; CONSANGUINITY; ERYTHRITOL; FATAL OUTCOME; FEMALE; FETAL DISEASES; GENE DELETION; HUMANS; HYDROPS FETALIS; INFANT, NEWBORN; MALE; MULTIPLE ORGAN FAILURE; RIBITOL; SUGAR ALCOHOLS; TRANSALDOLASE; TURKEY;

EID: 33745069906     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2006.08.016     Document Type: Article

References (10)

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