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1
المصدر: Pediatrics International. 46:673-677
مصطلحات موضوعية: Male, Genetically modified mouse, Genetic Vectors, Globotriaosylceramide, Enzyme-Linked Immunosorbent Assay, Mice, Transgenic, Spleen, Sensitivity and Specificity, Mice, chemistry.chemical_compound, medicine, Animals, biology, Biopsy, Needle, Genetic Therapy, medicine.disease, Immunohistochemistry, Fabry disease, Molecular biology, Enzyme assay, Disease Models, Animal, medicine.anatomical_structure, Gene Expression Regulation, chemistry, Organ Specificity, alpha-Galactosidase, Pediatrics, Perinatology and Child Health, biology.protein, Fabry Disease, Female, Bone marrow, Pancreas, Forecasting
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0a43987cc157cbe9307eb6f78bac3b3Test
https://doi.org/10.1111/j.1442-200x.2004.01983.xTest -
2
المؤلفون: Masahiko Tsuda, Katsuko Kakinuma, Ichiro Inana, Mizuho Kaneda, Takeshi Sakiyama, Takuo Shiraishi, Chika Kiryu, Misao Owada
المصدر: Human Genetics. 103:377-381
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, X Chromosome, Adolescent, Heme binding, Cytochrome, Genetic Linkage, Neutrophils, Heme, Granulomatous Disease, Chronic, Ligands, chemistry.chemical_compound, Chronic granulomatous disease, hemic and lymphatic diseases, Genetics, medicine, Humans, Genetics (clinical), Oxidase test, Membrane Glycoproteins, biology, Superoxide, Cytochrome b, NADPH Dehydrogenase, Membrane Transport Proteins, NADPH Oxidases, Cytochrome b Group, Phosphoproteins, medicine.disease, Molecular biology, Biochemistry, chemistry, Mutation, NADPH Oxidase 2, biology.protein, Peroxidase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64ff9cdc23bf51d7cdb361f2708a52b0Test
https://doi.org/10.1007/s004390050836Test -
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المؤلفون: Takeshi Sakiyama, Akira Nishida, Ichiro Inana, Mizuho Kaneda, Katsuko Kakinuma, Toru Fujinaga, Takuo Shiraishi, Chika Kiryu, Masahiko Tsuda
المصدر: Pediatrics International. 40:204-210
مصطلحات موضوعية: Male, Cytochrome, Neutrophils, Granulomatous Disease, Chronic, Methemoglobin, chemistry.chemical_compound, Chronic granulomatous disease, Humans, Medicine, Heme, Peroxidase, Oxidase test, NADPH oxidase, biology, business.industry, Infant, Cytochrome b Group, medicine.disease, Biochemistry, chemistry, Spectrophotometry, Oxyhemoglobins, Myeloperoxidase, Pediatrics, Perinatology and Child Health, biology.protein, Female, Hemoglobin, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ecd59f35c50569c8692c738214aa597Test
https://doi.org/10.1111/j.1442-200x.1998.tb01913.xTest -
4
المؤلفون: Tamotsu Taketomi, Kei-ichi Uemura, Takeshi Sakiyama, Yukie Kutsukake, Atsushi Hara, Teruo Kitagawa
المصدر: Biomedical Research. 14:289-295
مصطلحات موضوعية: Proband, medicine.medical_specialty, Phytanic acid, business.industry, Blood lipids, General Medicine, Metabolism, medicine.disease, General Biochemistry, Genetics and Molecular Biology, chemistry.chemical_compound, Refsum disease, Endocrinology, chemistry, Internal medicine, Phosphatidylcholine, Cholesteryl ester, Medicine, lipids (amino acids, peptides, and proteins), business, Sphingomyelin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::99c86f6ea90c9932af9f07c7cd1a931bTest
https://doi.org/10.2220/biomedres.14.289Test -
5
المؤلفون: Ryuuji Hoshide, Toshinobu Matsuura, Ichiro Matsuda, Misao Owada, M. Fukushima, Takeshi Sakiyama
المصدر: Journal of inherited metabolic disease. 16(1)
مصطلحات موضوعية: Male, DNA Mutational Analysis, Immunoblotting, Molecular Sequence Data, Biology, Polymerase Chain Reaction, law.invention, chemistry.chemical_compound, Ornithine Carbamoyltransferase, law, Pregnancy, Prenatal Diagnosis, Genetics, Humans, Amino Acid Sequence, Cloning, Molecular, Gene, Genetics (clinical), Polymerase chain reaction, chemistry.chemical_classification, Base Sequence, Point mutation, Wild type, Infant, Newborn, Heterozygote advantage, DNA, Molecular biology, Ornithine Carbamoyltransferase Deficiency Disease, Pedigree, Fetal Diseases, Enzyme, chemistry, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ae76f615f757edb7d908e24a02eb669Test
https://pubmed.ncbi.nlm.nih.gov/8487501Test -
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المؤلفون: Teruo Kitagawa, Eiji Nanba, Kousaku Ohno, Takeshi Sakiyama, Kenzo Takeshita, Shigeki Miyawaki
المصدر: Cell structure and function. 17(4)
مصطلحات موضوعية: medicine.medical_specialty, Physiology, Ratón, Biology, chemistry.chemical_compound, Mice, Mice, Neurologic Mutants, Internal medicine, medicine, Animals, Filipin, Molecular Biology, Niemann-Pick Diseases, Cholesterol, fungi, Embryo, Biological Transport, Cell Biology, General Medicine, Metabolism, 3T3 Cells, medicine.disease, Phenotype, Molecular biology, Pathophysiology, Disease Models, Animal, Endocrinology, chemistry, Cell culture, Niemann–Pick disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec2a2e0c326d77d2c1d26bd221f4a32bTest
https://pubmed.ncbi.nlm.nih.gov/1394466Test -
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المؤلفون: Takeshi Sakiyama, Teruo Kitagawa, Masahiko Tsuda, Hideya Endo
المصدر: Biochemical and biophysical research communications. 184(3)
مصطلحات موضوعية: Male, Sphingolipid Activator Proteins, Glycosylation, Molecular Sequence Data, Restriction Mapping, Biophysics, Sequence alignment, Biology, Biochemistry, Saposins, chemistry.chemical_compound, Mice, Complementary DNA, Sequence Homology, Nucleic Acid, Animals, Humans, Amino Acid Sequence, RNA, Messenger, Cloning, Molecular, Molecular Biology, Peptide sequence, Gene Library, Glycoproteins, chemistry.chemical_classification, Sertoli Cells, Base Sequence, Nucleic acid sequence, Protein primary structure, Cell Biology, DNA, Molecular biology, Amino acid, Rats, chemistry, Liver
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ba4a9792da1398044a469cc1b58edf4Test
https://pubmed.ncbi.nlm.nih.gov/1590788Test -
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المؤلفون: Shigeru Nakashima, Kohzo Nagata, Yoshiko Banno, Takeshi Sakiyama, Teruo Kitagawa, Yoshinori Nozawa, S. Miyawaki
المصدر: Journal of Lipid Research, Vol 25, Iss 3, Pp 219-227 (1984)
مصطلحات موضوعية: Erythrocytes, Linoleic acid, Phospholipid, QD415-436, Biology, Biochemistry, Mice, chemistry.chemical_compound, Endocrinology, hemic and lymphatic diseases, Blood plasma, medicine, Animals, Freeze Fracturing, Humans, Tissue Distribution, Phospholipids, Niemann-Pick Diseases, chemistry.chemical_classification, Genetic Carrier Screening, Fatty Acids, Brain, Fatty acid, nutritional and metabolic diseases, Cell Biology, medicine.disease, Mice, Mutant Strains, Disease Models, Animal, Microscopy, Electron, Oleic acid, Liver, chemistry, Docosahexaenoic acid, lipids (amino acids, peptides, and proteins), Sphingomyelin, Niemann–Pick disease, Spleen
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::091ca27ceecd2893d58d293f9ee97b5eTest
http://www.sciencedirect.com/science/article/pii/S0022227520378172Test -
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المؤلفون: Hiroki Nakabayashi, Teruo Kitagawa, Misao Owada, Shigeki Miyawaki, Masahiko Tsuda, Takeshi Sakiyama
المصدر: Pediatrics International. 27:64-68
مصطلحات موضوعية: medicine.medical_specialty, Bone marrow transplantation, business.industry, Cholesterol, Spleen, Metabolism, chemistry.chemical_compound, medicine.anatomical_structure, Endocrinology, Animal model, chemistry, Internal medicine, Pediatrics, Perinatology and Child Health, Immunology, medicine, Acid sphingomyelinase, Sphingomyelin, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::210920a666ee574555393cf91bdbb1f7Test
https://doi.org/10.1111/j.1442-200x.1985.tb00617.xTest -
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المؤلفون: Janice Yang Chou, Takeshi Sakiyama, J.C. Robinson
المصدر: Archives of Biochemistry and Biophysics. 191:782-791
مصطلحات موضوعية: Phosphatase, Biophysics, Biochemistry, Cell Line, chemistry.chemical_compound, Drug Stability, Pregnancy, medicine, Choriocarcinoma, Molecular Biology, Polyacrylamide gel electrophoresis, chemistry.chemical_classification, Molecular mass, biology, Acid phosphatase, Alkaline Phosphatase, medicine.disease, Precipitin Tests, Molecular biology, Deoxyuridine, Isoenzymes, Molecular Weight, Kinetics, Enzyme, Bromodeoxyuridine, chemistry, biology.protein, Alkaline phosphatase, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cc8f17b65cdd9518f2d479506454abcTest
https://doi.org/10.1016/0003-9861Test(78)90420-4