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Biochemical and Biophysical Research Communications
|
November 15, 1990
Galactosialidosis: simultaneous deficiency of esterase, carboxy-terminal deamidase and acid carboxypeptidase activities
R Kase, K Itoh, N Takiyama, et al.
The Japanese Journal of Human Genetics
|
September 1, 1996
Two novel mutations in the alpha-galactosidase gene in Japanese classical hemizygotes with Fabry disease
T Okumiya, T Takenaka, S Ishii, et al.
Brain & Development
|
October 7, 1998
Increased expression of beta-hexosaminidase alpha chain in cultured skin fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome type I
S Ichisaka, K Ohno, I Yuasa, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
January 23, 1998
Fetal diagnosis of galactosialidosis (protective protein/cathepsin A deficiency)
K Itoh, N Miharu, K Ohama, et al.
No to Hattatsu = Brain and Development
|
May 1, 1990
[Partial deletion of alpha-galactosidase A gene in a Japanese mutant of Fabry disease]
H Sakuraba, D F Bishop, T Suzuki, et al.
Blood
|
March 9, 1999
Missense mutations in the gp91-phox gene encoding cytochrome b558 in patients with cytochrome b positive and negative X-linked chronic granulomatous disease
M Kaneda, H Sakuraba, A Ohtake, et al.
Human Genetics
|
September 1, 1992
Splicing defect of the glycoasparaginase gene in two Japanese siblings with apartylglucosaminuria
K Yoshida, N Yanagisawa, A Oshima, et al.
Human Genetics
|
February 1, 1994
Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis)
A Oshima, K Yoshida, K Itoh, et al.
Human Genetics
|
May 1, 1995
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins
T Okumiya, S Ishii, R Kase, et al.
Human Genetics
|
December 18, 1998
Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease
M Fujimaru, A Tanaka, K Choeh, et al.
Page
of 13
Search research articles
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Showing results (51-60 of 128) with videos related to
Sort By:
Page
of 13
Biochemical and Biophysical Research Communications
|
November 15, 1990
Galactosialidosis: simultaneous deficiency of esterase, carboxy-terminal deamidase and acid carboxypeptidase activities
R Kase, K Itoh, N Takiyama, et al.
The Japanese Journal of Human Genetics
|
September 1, 1996
Two novel mutations in the alpha-galactosidase gene in Japanese classical hemizygotes with Fabry disease
T Okumiya, T Takenaka, S Ishii, et al.
Brain & Development
|
October 7, 1998
Increased expression of beta-hexosaminidase alpha chain in cultured skin fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome type I
S Ichisaka, K Ohno, I Yuasa, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
January 23, 1998
Fetal diagnosis of galactosialidosis (protective protein/cathepsin A deficiency)
K Itoh, N Miharu, K Ohama, et al.
No to Hattatsu = Brain and Development
|
May 1, 1990
[Partial deletion of alpha-galactosidase A gene in a Japanese mutant of Fabry disease]
H Sakuraba, D F Bishop, T Suzuki, et al.
Blood
|
March 9, 1999
Missense mutations in the gp91-phox gene encoding cytochrome b558 in patients with cytochrome b positive and negative X-linked chronic granulomatous disease
M Kaneda, H Sakuraba, A Ohtake, et al.
Human Genetics
|
September 1, 1992
Splicing defect of the glycoasparaginase gene in two Japanese siblings with apartylglucosaminuria
K Yoshida, N Yanagisawa, A Oshima, et al.
Human Genetics
|
February 1, 1994
Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis)
A Oshima, K Yoshida, K Itoh, et al.
Human Genetics
|
May 1, 1995
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins
T Okumiya, S Ishii, R Kase, et al.
Human Genetics
|
December 18, 1998
Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease
M Fujimaru, A Tanaka, K Choeh, et al.
Page
of 13