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Human Mutation
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January 1, 1993
A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH)
S M Moskowitz, P T Tieu, E F Neufeld
Biochemistry
|
August 5, 1980
p-Isothiocyanatophenyl 6-phospho-alpha-D-mannopyranoside coupled to albumin. A model compound recognized by the fibroblast lysosomal enzyme uptake system. 2. Biological properties
E M Karson, E F Neufeld, G N Sando
Genomics
|
November 1, 1992
Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I
K P Menon, P T Tieu, E F Neufeld
The Journal of Biological Chemistry
|
September 10, 1972
The Hunter corrective factor. Purification and preliminary characterization
M Cantz, A Chrambach, G Bach, et al.
Annual Review of Biochemistry
|
January 1, 1975
Inherited disorders of lysosomal metabolism
E F Neufeld, T W Lim, L J Shapiro
American Journal of Human Genetics
|
June 1, 1991
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene
B H Paw, L C Wood, E F Neufeld
Archives of Biochemistry and Biophysics
|
August 1, 1978
Human kidney alpha-L-iduronidase: purification and characterization
L H Rome, A J Garvin, E F Neufeld
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
June 15, 1977
A radioactive substrate and assay for alpha-L-iduronidase
P Di Natale, I G Leder, E F Neufeld
Proceedings of the National Academy of Sciences of the United States of America
|
August 1, 1972
The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase
G Bach, R Friedman, B Weissmann, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
September 1, 1972
Simulation of genetic mucopolysaccharidoses in normal human fibroblasts by alteration of pH of the medium
S O Lie, V A McKusick, E F Neufeld
Page
of 11
Search research articles
Search
Showing results (51-60 of 104) with videos related to
Sort By:
Page
of 11
Human Mutation
|
January 1, 1993
A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH)
S M Moskowitz, P T Tieu, E F Neufeld
Biochemistry
|
August 5, 1980
p-Isothiocyanatophenyl 6-phospho-alpha-D-mannopyranoside coupled to albumin. A model compound recognized by the fibroblast lysosomal enzyme uptake system. 2. Biological properties
E M Karson, E F Neufeld, G N Sando
Genomics
|
November 1, 1992
Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I
K P Menon, P T Tieu, E F Neufeld
The Journal of Biological Chemistry
|
September 10, 1972
The Hunter corrective factor. Purification and preliminary characterization
M Cantz, A Chrambach, G Bach, et al.
Annual Review of Biochemistry
|
January 1, 1975
Inherited disorders of lysosomal metabolism
E F Neufeld, T W Lim, L J Shapiro
American Journal of Human Genetics
|
June 1, 1991
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene
B H Paw, L C Wood, E F Neufeld
Archives of Biochemistry and Biophysics
|
August 1, 1978
Human kidney alpha-L-iduronidase: purification and characterization
L H Rome, A J Garvin, E F Neufeld
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
June 15, 1977
A radioactive substrate and assay for alpha-L-iduronidase
P Di Natale, I G Leder, E F Neufeld
Proceedings of the National Academy of Sciences of the United States of America
|
August 1, 1972
The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase
G Bach, R Friedman, B Weissmann, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
September 1, 1972
Simulation of genetic mucopolysaccharidoses in normal human fibroblasts by alteration of pH of the medium
S O Lie, V A McKusick, E F Neufeld
Page
of 11