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Journal of Medical Genetics
|
October 21, 1999
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders
N Shimozawa, A Imamura, Z Zhang, et al.
Biochemical and Biophysical Research Communications
|
February 27, 1996
Formation of the enzyme complex in mitochondria is required for function of trifunctional beta-oxidation protein
K E Orii, T Aoyama, M Souri, et al.
Clinical Genetics
|
October 1, 1996
Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes
T Fukao, A Kodama, N Aoyanagi, et al.
Human Mutation
|
April 1, 1998
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype
N Yamada, S Fukuda, S Tomatsu, et al.
Journal of Inherited Metabolic Disease
|
September 19, 2007
Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase
A M Montaño, K Sukegawa, Z Kato, et al.
Nature Genetics
|
December 1, 1995
Peroxisome assembly factor-2, a putative ATPase cloned by functional complementation on a peroxisome-deficient mammalian cell mutant
T Tsukamoto, S Miura, T Nakai, et al.
Biochemical and Biophysical Research Communications
|
August 27, 1999
Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients
N Shimozawa, Z Zhang, Y Suzuki, et al.
Human Mutation
|
September 23, 1998
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency
T Fukao, H Nakamura, X Q Song, et al.
Human Mutation
|
January 1, 1997
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome
S Bunge, W J Kleijer, A Tylki-Szymanska, et al.
Clinical Genetics
|
October 1, 1996
Life-threatening cardiac involvement throughout life in a case of Costello syndrome
T Fukao, S Sakai, N Shimozawa, et al.
Page
of 28
Search research articles
Search
Showing results (251-260 of 276) with videos related to
Sort By:
Page
of 28
Journal of Medical Genetics
|
October 21, 1999
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders
N Shimozawa, A Imamura, Z Zhang, et al.
Biochemical and Biophysical Research Communications
|
February 27, 1996
Formation of the enzyme complex in mitochondria is required for function of trifunctional beta-oxidation protein
K E Orii, T Aoyama, M Souri, et al.
Clinical Genetics
|
October 1, 1996
Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes
T Fukao, A Kodama, N Aoyanagi, et al.
Human Mutation
|
April 1, 1998
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype
N Yamada, S Fukuda, S Tomatsu, et al.
Journal of Inherited Metabolic Disease
|
September 19, 2007
Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase
A M Montaño, K Sukegawa, Z Kato, et al.
Nature Genetics
|
December 1, 1995
Peroxisome assembly factor-2, a putative ATPase cloned by functional complementation on a peroxisome-deficient mammalian cell mutant
T Tsukamoto, S Miura, T Nakai, et al.
Biochemical and Biophysical Research Communications
|
August 27, 1999
Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients
N Shimozawa, Z Zhang, Y Suzuki, et al.
Human Mutation
|
September 23, 1998
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency
T Fukao, H Nakamura, X Q Song, et al.
Human Mutation
|
January 1, 1997
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome
S Bunge, W J Kleijer, A Tylki-Szymanska, et al.
Clinical Genetics
|
October 1, 1996
Life-threatening cardiac involvement throughout life in a case of Costello syndrome
T Fukao, S Sakai, N Shimozawa, et al.
Page
of 28