40 A NOVEL MUTATION OF 25-HYDROXY VITAMIN D3 1α-HYDROXYLASE GENE IN A JAPANESE FAMILY WITH VITAMIN D DEPENDENT RICKETS TYPE1
スポンサーリンク
概要
著者
-
Shimizu T
Department Of Applied Chemistry Faculty Of Engineering Utsunomiya University
-
Kinoshita E
Department Of Pediatrics Nagasaki University School Of Medicine
-
Hara M
Department Of Anatomy St. Marianna University School Of Medicine
-
Motomura K
Department Of Pediatrics Nagasaki University Graduate School Of Biomedical Sciences
-
Oka S
Sasebo Kyosai Hospital
-
Kinoshita E
Department Of Pediatrics Nagasaki University Graduate School Of Biomedical Sciences
-
Shimizu T
Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences
関連論文
- 243 A CASE OF McCUNE-ALBRIGHT SYNDROME WITH NARROWING OPTIC CANAL : A TRIAL OF INTRAVENOUS PAMIDRONATE TREATMENT
- An Improved Simultaneous Measurement of Oxidized and Reduced Glutathione in Biological Samples by High-Performance Liquid Chromatography Following Derivatization with Dansyl Chloride
- Spectrophotometric Studies for Complex Formation of Diammonium 1, 4, 10, 13-Tetraoxa-7, 16-diazacycrooctadecane-bis(N-carbodithioate) with Transitional Metal Ions under Coexistence of Alkali Metal Ion and Alkali Earth Metal Ion
- Determination of Trace Amounts of Silver in High-Purity Aluminum by Graphite-Furnace Atomic Absorption Spectrometry after Solvent Extraction and Micro-Volume Back-Extraction
- Determination of Trace Amounts of Molybdenum in Rainwater and Snow by Graphite-Furnace Atomic Absorption Spectrometry after Solvent Extraction and Micro-Volume Back-Extraction
- Double Schottky Diode-Type Gas Sensor for Discriminative Detection of Phosphine and Hydrogen
- Spectrophotometric Characterization of Diazacrown Ethers Having Two Carbodithioate Groups
- Synthesis and Absolute Configuration of Optically Active Telluronium Salts
- Prevention of Nephrotoxicity of Cisplatin by Repeated Oral Administration of Ebselen in Rats
- Appraisal of bone maturity age derived from broadband ultrasonic attenuation in Japanese children and adolescents
- Mental Retardation in a Boy with Congenital Adrenal Hypoplasia : A Clue to Contiguous Gene Syndrome Involving DAX1 and IL1RAPL
- 168 A frameshift mutation and a familial deletion mutation of the DAX1 gene in patients with X-linked adrenal hypoplasia congenita
- 145 Study of the levels of new tumor marker, Basic fetoprotein (BFP) in comparison with that of CA125, CA19-9 and SLX in the gynecological disease.
- 40 A NOVEL MUTATION OF 25-HYDROXY VITAMIN D3 1α-HYDROXYLASE GENE IN A JAPANESE FAMILY WITH VITAMIN D DEPENDENT RICKETS TYPE1
- 53 PITUITARY MAGNETIC RESONANCE IMAGING IN CHILDREN WITH GROWTH HORMONE DEFICIENCY
- 66 Conventional detection of somatic GNAS1 mutation utilizing peripheral blood leukocyte in McCune-Albright syndrome
- 64 GNAS1 mutation in a Japanese boy with progressive osseous heteroplasia.
- 98 A male-raised 46, XX case of congenital adrenal hyperplasia due to 21 hydroxylase deficiency
- 101 A female case of classical 3β-hydroxysteroid dehydrogenase deficiency with multicystic ovary and anovulatory menstruation : Evaluation of ovarian function after puberty
- 109 A case of allergy to gelatin included in the gonadotropin-releasing hormone analog "depot leuprorelin acetate"
- (一般演題)(日本アフェレシス学会第22回関西地方会抄録)
- Fatty degeneration of osteocytes of the fourth metatarsus in patients with idiopathic necrosis of the femoral head.
- 83 Analysis of suppressor of cytokine signaling-2 (SOCS-2) gene in overgrowth syndrome