Prenatal diagnosis of free sialic acid storage disorders (SASD)

Prenatal Diagnosis

Volumn 26, Issue 8, 2006, Pages 655-658

  Aula, Nina ^a   Aula, Pertti ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Free sialic acid; Infantile sialic acid storage disorder; Lysosomal storage disease; Salla disease; Sialin; SLC17A5 gene

Indexed keywords

CARRIER PROTEIN; CARRIER PROTEIN SIALIN; SIALIC ACID; UNCLASSIFIED DRUG;

AMNION FLUID; CARBOHYDRATE TRANSPORT; CELL CULTURE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETICS; HUMAN; INFANT DISEASE; LYSOSOME MEMBRANE; LYSOSOME STORAGE DISEASE; OBSTETRIC CARE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SIALIC ACID STORAGE DISEASE; SLC17A5 GENE; URINARY EXCRETION;

ADULT; AMNIOCENTESIS; AMNIOTIC FLUID; CELLS, CULTURED; CHORIONIC VILLI; CHORIONIC VILLI SAMPLING; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FETAL DISEASES; GENETIC LINKAGE; HUMANS; LINKAGE (GENETICS); N-ACETYLNEURAMINIC ACID; ORGANIC ANION TRANSPORTERS; PREGNANCY; PRENATAL DIAGNOSIS; SIALIC ACID STORAGE DISEASE; SYMPORTERS;

EID: 33747414040     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1431     Document Type: Review

References (12)

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