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Brain & Development
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November 1, 1992
Improvement of clinical and MRI findings in a boy with adrenoleukodystrophy by dietary erucic acid therapy
K Maeda, Y Suzuki, S Yajima, et al.
Prenatal Diagnosis
|
May 1, 1996
Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency
T Fukao, X Q Song, H Watanabe, et al.
Biochemical and Biophysical Research Communications
|
January 28, 1994
Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy
A Uchiyama, Y Suzuki, X Q Song, et al.
Journal of Inherited Metabolic Disease
|
March 21, 1998
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)
K Isogai, K Sukegawa, S Tomatsu, et al.
Pediatric Research
|
November 1, 1991
Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (beta-subunit) deficiency
S Yamaguchi, N Shimizu, T Orii, et al.
Human Molecular Genetics
|
August 1, 1997
Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency
K E Orii, T Aoyama, K Wakui, et al.
Clinical Genetics
|
June 4, 1998
Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation
K Sukegawa, T Matsuzaki, S Fukuda, et al.
Journal of Clinical Immunology
|
May 1, 1991
Suppression of immunoglobulin production of lymphocytes by intravenous immunoglobulin
N Kondo, T Ozawa, K Mushiake, et al.
Brain & Development
|
January 1, 1994
Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes
Y Suzuki, N Shimozawa, I Kawabata, et al.
Biochemical and Biophysical Research Communications
|
January 31, 1992
Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients
Y Mitsuuchi, T Kawamoto, Y Naiki, et al.
Page
of 28
Search research articles
Search
Showing results (211-220 of 276) with videos related to
Sort By:
Page
of 28
Brain & Development
|
November 1, 1992
Improvement of clinical and MRI findings in a boy with adrenoleukodystrophy by dietary erucic acid therapy
K Maeda, Y Suzuki, S Yajima, et al.
Prenatal Diagnosis
|
May 1, 1996
Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency
T Fukao, X Q Song, H Watanabe, et al.
Biochemical and Biophysical Research Communications
|
January 28, 1994
Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy
A Uchiyama, Y Suzuki, X Q Song, et al.
Journal of Inherited Metabolic Disease
|
March 21, 1998
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)
K Isogai, K Sukegawa, S Tomatsu, et al.
Pediatric Research
|
November 1, 1991
Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (beta-subunit) deficiency
S Yamaguchi, N Shimizu, T Orii, et al.
Human Molecular Genetics
|
August 1, 1997
Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency
K E Orii, T Aoyama, K Wakui, et al.
Clinical Genetics
|
June 4, 1998
Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation
K Sukegawa, T Matsuzaki, S Fukuda, et al.
Journal of Clinical Immunology
|
May 1, 1991
Suppression of immunoglobulin production of lymphocytes by intravenous immunoglobulin
N Kondo, T Ozawa, K Mushiake, et al.
Brain & Development
|
January 1, 1994
Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes
Y Suzuki, N Shimozawa, I Kawabata, et al.
Biochemical and Biophysical Research Communications
|
January 31, 1992
Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients
Y Mitsuuchi, T Kawamoto, Y Naiki, et al.
Page
of 28