Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children

American Journal of Medical Genetics

Volumn 120 A, Issue 1, 2003, Pages 28-33

  Kleta, Robert ^a   Aughton, David J ^b   Rivkin, Michael J ^c   Huizing, Marjan ^a   Strovel, Erin ^a   Anikster, Yair ^a   Orvisky, Eduard ^d   Natowicz, Marvin ^e   Krasnewich, Donna ^f   Gahl, William A ^a,f  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b WILLIAM BEAUMONT HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^e LERNER RESEARCH INSTITUTE   (United States)

^f NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Infantile free sialic acid storage disease (ISSD); Lysosomal storage; N acetylneuraminic acid; Salla disease; Sialic acid

Indexed keywords

COMPLEMENTARY DNA; RNA; SIALIC ACID;

ARTICLE; CASE REPORT; CHILD; CHILDHOOD DISEASE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; FEMALE; FIBROBLAST CULTURE; FINLAND; GENE; GENE MUTATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; INFANT; INFANT DISEASE; LYSOSOME STORAGE DISEASE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SIALIC ACID STORAGE DISEASE; SLC17A5 GENE; SWEDEN; UNITED STATES; URINARY EXCRETION;

EID: 10744228308     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20024     Document Type: Article

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