Per ulteriori informazioni selezionare i riferimenti di interesse.
Measurements from normal umbilical cord blood of four lysosomal enzymatic activities: alpha-L-iduronidase (Hurler), galactocerebrosidase (globoid cell leukodystrophy), arylsulfatase A (metachromatic leukodystrophy), arylsulfatase B (Maroteaux-Lamy)
BONE MARROW TRANSPLANTATION
Molecular basis of late-life globoid cell leukodystrophy
HUMAN MUTATION
5-FLUOROCYTOSINE-MEDIATED APOPTOSIS AND DNA-DAMAGE IN GLIOMA-CELLS ENGINEERED TO EXPRESS CYTOSINE DEAMINASE AND THEIR ENHANCEMENT WITH INTERFERON
Journal of neuro-oncology
ANTISULFATIDE IGG ANTIBODIES RECOGNIZE HIV PROTEINS
Journal of acquired immune deficiency syndromes and human retrovirology
MULTIPLE MUTATIONS IN THE GALACTOCEREBROSIDASE GENE ARE ASSOCIATED WITH A VERY MILD LATE-ONSET FORM OF GLOBOID-CELL LEUKODYSTROPHY
Annals of neurology
ADULT-ONSET KRABBES DISEASE IN SIBLINGS WITH NOVEL MUTATIONS IN THE GALACTOCEREBROSIDASE GENE
Annals of neurology
CORRELATION OF GLIOMA CELL REGRESSION WITH INHIBITION OF INSULIN-LIKE-GROWTH-FACTOR-1 AND INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN-2 EXPRESSION
Neuroendocrinology
A HUMAN CELL-SURFACE PROTEIN RECOGNIZED BY A ANTI-GALACTOSYLCERAMIDE MONOCLONAL-ANTIBODY
Journal of neurochemistry
AN ALTERATION IN THE ALPHA-CHAIN PROPEPTIDE IS ASSOCIATED WITH BETA-HEXOSAMINIDASE-A PSEUDODEFICIENCY
American journal of human genetics
USE OF AMPHOTROPIC RECOMBINANT SL3-3 RETROVIRUSES IN THE STABLE REVERSION OF THE TAY-SACHS PHENOTYPE IN HUMAN BRAIN-CELLS
American journal of human genetics
INTRATHECAL SYNTHESIS OF ANTI-SULFATIDE IGG IS ASSOCIATED WITH PERIPHERAL-NERVE DISEASE IN ACQUIRED-IMMUNODEFICIENCY-SYNDROME
AIDS research and human retroviruses
LATE-ONSET KRABBE DISEASE IN GALACTOSYLCERAMIDE BETA-GALACTOSIDASE COMPOUND HETEROZYGOTES
Annals of neurology
LATE-ONSET G(M2) GANGLIOSIDOSIS - ASHKENAZI JEWISH FAMILY WITH AN EXON-5 MUTATION (TYR(180)-]HIS) IN THE HEX-A ALPHA-CHAIN GENE
Neurology
A HUMAN KIDNEY CDNA WHICH INDUCES A CELL-SURFACE PROTEIN EPITOPE RECOGNIZED BY A MONOCLONAL-ANTIBODY AGAINST GALACTOSYLCERAMIDE
Biochemical and biophysical research communications
CORRECTION OF THE GALACTOCEREBROSIDASE DEFICIENCY IN GLOBOID-CELL LEUKODYSTROPHY-CULTURED CELLS BY SL3-3 RETROVIRAL-MEDIATED GENE-TRANSFER
Biochemical and biophysical research communications
MOLECULAR HETEROGENEITY OF LATE-ONSET FORMS OF GLOBOID-CELL LEUKODYSTROPHY
American journal of human genetics
SUBSTITUTION OF ALANINE(543) WITH A THREONINE RESIDUE AT THE CARBOXY-TERMINAL END OF THE BETA-CHAIN IS ASSOCIATED WITH THERMOLABILE HEXOSAMINIDASE-B IN A JEWISH FAMILY OF ORIENTAL ANCESTRY
Biochemical and molecular medicine
MOLECULAR-GENETICS OF LATE-ONSET FORMS OF KRABBES DISEASE
Annals of neurology
ANTISULFATIDE IMMUNOGLOBULIN-G IS ELEVATED IN THE SERUM OF MULTIPLE-SCLEROSIS PATIENTS
Annals of neurology
MOLECULAR-GENETICS OF LATE-ONSET KRABBE DISEASE
American journal of human genetics
LATE-ONSET G(M2)-GANGLIOSIDOSIS IN 2 SIBLINGS OF ASHKENAZI JEWISH ANCESTRY RESULTS FROM A MUTATION IN THE HEXA GENE CAUSING ABNORMAL THERMOLABILITY OF HEXOSAMINIDASE-A
American journal of human genetics
SUBSTITUTION OF ALANINE(531) WITH A THREONINE RESIDUE AT THE CARBOXY-TERMINAL END OF THE BETA-CHAIN IS ASSOCIATED WITH THERMOLABILE HEXOSAMINIDASE-B IN A JEWISH FAMILY OF ORIENTAL ANCESTRY
American journal of human genetics
CANAVAN-DISEASE IN COMPOUND HETEROZYGOTE WITH NOVEL MUTATION (C-914-]A) IN ASPARTOACYLASE GENE (VOL 11, PG 145, 1994)
Pediatric neurology
NEGATIVE REGULATION OF THE 5' LONG TERMINAL REPEAT (LTR) BY THE 3' LTR IN THE MURINE PROVIRAL GENOME
Journal of virology