المؤلفون: Atsuo Itakura, Kaoru Shimokata, Mitsuharu Kajita, Kazuyoshi Watanabe, Shunji Mimura, Izumi Yasuda, Takeyori Saheki, Yoshitaka Sekido, Tsutomu Aoshima, Toshimitsu Niwa

المصدر: Prenatal Diagnosis. 21:634-637

مصطلحات موضوعية: Male, Carbamoyl-Phosphate Synthase I Deficiency Disease, Prenatal diagnosis, Biology, medicine.disease_cause, Compound heterozygosity, Polymerase Chain Reaction, Carbamoyl phosphate synthetase I, law.invention, Diagnosis, Differential, Pregnancy, law, Prenatal Diagnosis, medicine, Humans, Genetics (clinical), Polymerase chain reaction, DNA Primers, Mutation, Point mutation, Infant, Newborn, Membrane Proteins, Obstetrics and Gynecology, medicine.disease, Molecular biology, genomic DNA, Glucosyltransferases, Pregnancy Trimester, Second, Carbamoyl phosphate synthetase I deficiency, biology.protein, Female, Schizosaccharomyces pombe Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa586e4b48fd6a52e00b568fee6ef801
https://doi.org/10.1002/pd.123

المؤلفون: Mitsuharu Kajita, Tsutomu Aoshima, K.Kazuyoshi Watanabe, Masahiko Kimura, Yoshiko Ishiguro, Seiji Yamaguchi, Yoshitaka Sekido, Ikuya Tsuge, Toshimitsu Niwa, Kaoru Shimokata

المصدر: Human Heredity. 53:42-44

مصطلحات موضوعية: Succinic semialdehyde dehydrogenase deficiency, Genetics, Mutation, Biology, Compound heterozygosity, medicine.disease_cause, medicine.disease, Molecular biology, Frameshift mutation, Succinate-semialdehyde dehydrogenase, genomic DNA, medicine, Missense mutation, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2bbaec253a7b4d50e1cce595bdcb48d8
https://doi.org/10.1159/000048603

المؤلفون: Mitsuharu Kajita, Satoshi Kikuchi, Izumi Yasuda, Tsutomu Aoshima, Kaoru Shimokata, Toshimitsu Niwa, Kazuyoshi Watanabe, Takeyori Saheki, Yoshitaka Sekido

المصدر: Human Heredity. 52:99-101

مصطلحات موضوعية: Mutation, Biochemistry, Carbamoyl phosphate synthetase I deficiency, Urea cycle, Genetics, medicine, Hyperammonemia, Biology, medicine.disease, medicine.disease_cause, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::80a8d5b50d933a6247e69cbd5dd20ea1
https://doi.org/10.1159/000053360

المؤلفون: Tsutomu, Aoshima, Mitsuharu, Kajita, Yoshitaka, Sekido, Yoshiko, Ishiguro, Ikuya, Tsuge, Masahiko, Kimura, Seiji, Yamaguchi, Kazuyoshi, Watanabe, Kaoru, Shimokata, Toshimitsu, Niwa

المصدر: Human heredity. 53(1)

مصطلحات موضوعية: Male, Molecular Sequence Data, Mutation, Missense, Humans, Hydroxybutyrates, Infant, Succinate-Semialdehyde Dehydrogenase, Aldehyde Oxidoreductases, GABA Agonists, Sequence Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3a9a09fcbbbbc92623fb1aa7ff344b05
https://pubmed.ncbi.nlm.nih.gov/11901270

المؤلفون: Yoshiko Ishiguro, Seiji Yamaguchi, Tsutomu Aoshima, Mitsuharu Kajita, Masahiko Kimura, Kazuyoshi Watanabe

المصدر: Braindevelopment. 23(2)

مصطلحات موضوعية: Male, medicine.medical_specialty, Hydroxybutyrates, Glutaric acid, Hyperkinesis, gamma-Aminobutyric acid, chemistry.chemical_compound, Developmental Neuroscience, Japan, Internal medicine, medicine, Humans, Amino Acid Metabolism, Inborn Errors, gamma-Aminobutyric Acid, chemistry.chemical_classification, Psychomotor retardation, business.industry, Brain, Infant, General Medicine, Aldehyde Oxidoreductases, Amino acid, Succinate-semialdehyde dehydrogenase, Endocrinology, chemistry, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, Psychomotor Disorders, Succinate-Semialdehyde Dehydrogenase, Suberic acid, Psychomotor disorder, business, medicine.drug, Organic acid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9c8ec0b02acc94ca7c8e092b02adc76
https://pubmed.ncbi.nlm.nih.gov/11248463

المؤلفون: Mitsuharu Kajita, Kaoru Shimokata, Kazuyoshi Watanabe, Takashi Miyazaki, Shunji Mimura, Yoshitaka Sekido, Tsutomu Aoshima, Toshimitsu Niwa

المصدر: Clinical chemistry. 46(1)

مصطلحات موضوعية: Male, DNA, Complementary, Adolescent, Clinical Biochemistry, Carbamoyl-Phosphate Synthase (Ammonia), Biology, medicine.disease_cause, Polymerase Chain Reaction, Melting curve analysis, law.invention, Frameshift mutation, law, Genotype, medicine, Humans, Polymerase chain reaction, Fluorescent Dyes, Sequence Deletion, Genetics, Mutation, Point mutation, Biochemistry (medical), medicine.disease, Fabry disease, genomic DNA, alpha-Galactosidase, Fabry Disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b8593b9175a6fc8a370cc0a6b9a047e
https://pubmed.ncbi.nlm.nih.gov/10620581