Prenatal detection of free sialic acid storage disease: Genetic and biochemical studies in nine families

Prenatal Diagnosis

Volumn 21, Issue 5, 2001, Pages 354-358

  Salomäki, Pirjo ^a   Aula, Nina ^b   Juvonen, Vesa ^a   Renlund, Martin ^c   Aula, Pertti ^c  

^a UNIVERSITY OF TURKU   (Finland)

^b NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Free sialic acid storage disease; Prenatal detection; Salla disease

Indexed keywords

SIALIC ACID;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHORION VILLUS SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FETUS; FETUS MONITORING; GENE LOCATION; GENE MUTATION; GENETIC LINKAGE; HUMAN; INFANTILE SIALIC ACID STORAGE DISEASE; LYSOSOME; LYSOSOME STORAGE DISEASE; MISSENSE MUTATION; MOLECULAR GENETICS; PREGNANCY COMPLICATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SIALIC ACID STORAGE DISEASE; SLC17A5 GENE; SUGAR TRANSPORT;

ADULT; ALLELES; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHORIONIC VILLI SAMPLING; CHROMOSOME MAPPING; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FINLAND; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM; MALE; MICROSATELLITE REPEATS; MUTATION, MISSENSE; N-ACETYLNEURAMINIC ACID; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY;

EID: 0034994128     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.68     Document Type: Article

References (18)

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