Globoid cell leukodystrophy (Krabbe disease): Normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations

Journal of Inherited Metabolic Disease

Volumn 28, Issue 6, 2005, Pages 1005-1009

  Raghavan, S ^a   Zeng, B ^d   Torres, P A ^a   Pastores, G M ^a   Kolodny, E H ^a   Kurtzberg, J ^b   Krivit, W ^c  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c UNIV OF MINNESOTA HOSP AND CLINIC   (United States)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYSTEINE; GALACTOSYLCERAMIDASE; NUCLEOTIDE; PYRANOSIDE; THREONINE;

ALLELE; ARTICLE; CENTRAL NERVOUS SYSTEM; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ASSAY; GENETIC POLYMORPHISM; GENETIC SELECTION; GLOBOID CELL LEUKODYSTROPHY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HETEROZYGOSITY; HLA SYSTEM; HOMOZYGOTE; HUMAN; HUMAN CELL; MUTATIONAL ANALYSIS; RANDOM SAMPLE; UMBILICAL CORD BLOOD;

ALLELES; CENTRAL NERVOUS SYSTEM; CRYOPRESERVATION; DNA, COMPLEMENTARY; FETAL BLOOD; GALACTOSIDES; GALACTOSYLCERAMIDASE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HETEROZYGOTE; HLA ANTIGENS; HOMOZYGOTE; HUMANS; HYMECROMONE; LEUKODYSTROPHY, GLOBOID CELL; LYSOSOMES; MUTATION; POLYMORPHISM, GENETIC;

EID: 31644434490     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-4138-z     Document Type: Article

References (14)

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