Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels

Molecular Genetics and Metabolism

Volumn 110, Issue 1-2, 2013, Pages 129-138

  Dũng, Vũ Chí ^a   Tomatsu, Shunji ^a   Montaño, Adriana M ^c   Gottesman, Gary ^c   Bober, Michael B ^b   Mackenzie, William ^b   Maeda, Miho ^b   Mitchell, Grant A ^d   Suzuki, Yasuyuki ^e   Orii, Tadao ^f  

^a NATIONAL HOSPITAL OF PEDIATRICS   (Viet Nam)

^b NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^c SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF MONTREAL   (Canada)

^e GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f GIFU UNIVERSITY   (Japan)

Author keywords

Biomarker; Genotype; Keratan sulfate; Mucopolysaccharidosis IVA; Phenotype

Indexed keywords

GENOMIC DNA; KERATAN SULFATE; N ACETYLGALACTOSAMINE 6 SULFATASE; GALNS PROTEIN, HUMAN; N ACETYLGALACTOSAMINE 4 SULFATASE;

ADULT; AGE; ARTICLE; BLOOD LEVEL; BONE DYSPLASIA; CONTROLLED STUDY; DISEASE COURSE; DNA DENATURATION; DNA SPLICING; ENZYME LINKED IMMUNOSORBENT ASSAY; ETHNIC GROUP; EXON; FAMILY HISTORY; FEMALE; GENE AMPLIFICATION; GENE INSERTION; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; GROWTH CURVE; HUMAN; INDEL MUTATION; INTRON; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MORQUIO SYNDROME TYPE A; MUCOPOLYSACCHARIDOSIS; NONSENSE MUTATION; ONSET AGE; PATIENT; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGNOSIS; SEQUENCE ANALYSIS; URINE LEVEL; ADOLESCENT; BLOOD; CHILD; DEFICIENCY; GENETIC ASSOCIATION; GENETICS; INFANT; MIDDLE AGED; MORQUIO SYNDROME; MUTATION; PERSONALIZED MEDICINE; PRESCHOOL CHILD; URINE;

IVA;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHONDROITINSULFATASES; GENETIC ASSOCIATION STUDIES; HUMANS; INDIVIDUALIZED MEDICINE; INFANT; KERATAN SULFATE; MIDDLE AGED; MUCOPOLYSACCHARIDOSIS IV; MUTATION;

EID: 84882919040     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.06.008     Document Type: Article

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