Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation
スポンサーリンク
概要
- 論文の詳細を見る
- 2011-12-01
著者
-
Heike Toshio
Department Of Cardiovascular Medicine Kyoto University
-
Nagata Ikuo
Division Of Pediatrics And Perinatology Faculty Of Medicine Tottori University
-
Nishijima Koji
Department Of Applied Chemistry Okayama University Of Science
-
Fujisawa Tomoo
Department Of Gastroenterology Matsue Red Cross Hospital
-
Yasumi Takahiro
Department Of Pediatrics Graduate School Of Medicine Kyoto University
-
Tahara Masahiro
Department Of Pediatrics Hiroshima City Asa Hospital Hiroshima City
-
Shigematsu Yosuke
Department Of Fundamental Nursing Fukui Medical University
-
Inui Ayano
Department Of Pediatrics Eastern Yokohama Hospital
-
Nishikomori Ryuta
Department Of Pediatrics Graduate School Of Medicine Kyoto University
-
Inui Ayano
Department Of Pediatrics Yokohama City Tobu Hospital
-
SAKAI Hidemasa
Department of Pediatrics, Kyoto University Graduate School of Medicine
-
KUWAKADO Katsuji
Department of Pediatrics, Kurashiki Central Hospital
-
WATABE Shinichi
Department of Pediatrics, Kurashiki Central Hospital
-
KAMEYAMA Junji
Department of Pediatrics, Kurashiki Central Hospital
-
Kameyama Junji
Department Of Pediatrics Kurashiki Central Hospital
-
Sakai Hidemasa
Department Of Pediatrics Kyoto University Graduate School Of Medicine
-
Kuwakado Katsuji
Department Of Pediatrics Kurashiki Central Hospital
-
Heike Toshio
Department Of Pediatrics Kyoto University Graduate School Of Medicine
-
Watabe Shinichi
Department Of Pediatrics Kurashiki Central Hospital
-
Shigematsu Yosuke
Department Of Health Science Faculty Of Medicine Sciences University Of Fukui
-
Tahara Masahiro
Department Of Pediatrics Kurashiki Central Hospital
-
Fujisawa Tomoo
Department Of Pediatrics Yokohama City Tobu Hospital
-
Nishijima Koji
Department Of Pediatrics Kurashiki Central Hospital
関連論文
- PE-263 Neural Cell Adehesion Molecule is Upregulated by Metabolic Stress and Enhances the Cardiomyocyte Survival(PE044,Molecular Biology (M),Poster Session (English),The 73rd Annual Scientific Meeting of The Japanese Circulation Society)
- FRS-064 NF-kB-dependent Induction of MicroRNA-146 Downregulates ErbB4 and may be Involved in the Deterioration of Cardiomyocyte Survival(FRS13,Novel Molecular Mechanisms of Heart Failure 2 (M),Featured Research Session (English),The 73rd Annual Scientific
- PE-454 Cell Line-dependent Differentiation of Mouse Induced-pluripotent Stem Cells into Cardiomyocytes(PE076,Regeneration (M),Poster Session (English),The 73rd Annual Scientific Meeting of the Japanese Circulation Society)
- PJ-272 Cyclin-dependent kinases-9 is required for the differentiation of mouse ES cells into cardiac myocytes.(Development and differentiation(02)(M),Poster Session(Japanese),The 72nd Annual Scientific Meeting of the Japanese Circulation Society)
- OE-233 MicroRNA-133 Regulates the Expression of GLUT4 by Targeting KLF15 and is Involved in Metabolic Control in Cardiac Myocytes(Metabolism/Biochemistry/Energetics(01)(M),Oral Presentation(English),The 72nd Annual Scientific Meeting of the Japanese Circu
- OE-166 Upregulation of MicroRNA Targeting Retinoid X Receptor A Contributes to Development of Cardiac Hypertrophy(Molecular biology, myocardium (M),Oral Presentation(English),The 72nd Annual Scientific Meeting of the Japanese Circulation Society)
- PJ-760 Cyclin-Dependent Kinases-9, as a Novel Component of p300/GATA-4 Complex, is Involved in Differentiation of Mouse ES Cells into Cardiac Myocytes(Development and differentiation-2, The 71st Annual Scientific Meeting of the Japanese Circulation Societ
- PE-419 Enkephalin is Required for Adipocyte Differentiation and is Involved in Impaired Glucose Tolerance in Rat Model of Type II Diabetes(Diabetes/Obesity/Metabolic syndrome-06, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- PE-417 Activation of TG-interacting Factor by Insulin Regulates Adipocyte Differentiation(Diabetes/Obesity/Metabolic syndrome-06, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- PE-409 Functional Cloning of the Genes which Regulates GLUT4 Trafficking in Cardiac Myocytes(Diabetes/Obesity/Metabolic syndrome-05, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- PE-172 miR-133 Controls GLUT4 Expression by Targeting KLF15 in Cardiomyocytes(Metabolism/Biochemistry/Energetics-1, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- PE-171 Oxidative Stress Induces GLUT4 Translocation by Dual AMPK Kinase Activation in Cardiac Myocytes(Metabolism/Biochemistry/Energetics-1, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- A Specific Inhibitor of Histone Deacetylase, Trichostatin A, Promotes Differentiation of Embryonic Stem Cells into Cardiac Myocytes
- OE-317 MicroRNA-206 Controls Expression of α-and β-Myosin Heavy Chain Genes in Cardiac Myocytes(Molecular biology, myocardium-1, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- OE-109 Trapping of Genes that Encode Secreted and Transmembrane Proteins in H9C2 cardiomyoblasts(Growth factor/Cytokine-1(H/M), The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- FRS-024 Up-Regulated Expression of MicroRNA-143 in the Adipose Tissue of High-Fat Diet-Induced Obese Mice(Diabetes/Obesity (basic), The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- PE-349 Leptin Induces Physiological and Compensated Growth of the Left Ventricles Following Myocardial Infarction in Vivo(Diabetes/Obesity/Metabolic syndrome-7 (H) PE59,Poster Session (English),The 70th Anniversary Annual Scientific Meeting of the Japanes
- PE-245 Adipocyte-derived Serotonin Regulates Adipocyte Differentiation via an Autocrine/paracrine Mechanism(Diabetes/Obesity/Metabolic syndrome-8 (H) PE41,Poster Session (English),The 70th Anniversary Annual Scientific Meeting of the Japanese Circulation
- PE-103 The Role of cAMP/PKA Pathway in the Differentiation of Embryonic Stem Cells into Cardiac Myocytes(Development and differentiation-2 (M) PE18,Poster Session (English),The 70th Anniversary Annual Scientific Meeting of the Japanese Circulation Society
- Ring/marker chromosome derived from chromosome 7 in childhood acute megakaryoblastic leukemia with monosomy 7
- Second Transplantation from HLA 2-Loci-Mismatched Mother for Graft Failure Due to Hemophagocytic Syndrome after Cord Blood Transplantation
- Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry
- Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography : A practical confirmatory test for tandem mass spectrometry newborn screening in Japan
- Bone mineral status in ambulatory pediatric patients on long-term anti-epileptic drug therapy
- Evaluation of a rapid reagent strip test for the diagnosis of childhood meningitis
- Comparison of the effects of omeprazole and famotidine in treatment of upper abdominal symptoms in patients with reflux esophagitis
- OE-196 Identification of Signaling Pathways that Mediate Myocardial GLUT4 Translocation using a Novel Lenti Viral-mediated GLUT4 Reporter Gene(Metabolism/Biochemistry/Energetics-1 (H) OE33,Oral Presentation (English),The 70th Anniversary Annual Scientific
- A Case of Female Pseudohermaphroditism Caused by Aromatase Deficiency
- Associated factors in neonatal hypoglycemic brain injury
- Urinary oxidative stress markers in young patients with type 1 diabetes
- A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency
- Differentiation of embryonic stem cells into cardiac myocytes
- Sacroiliitis infected with group A streptococcus in a child presenting with confusion and combativeness
- Source of transmission in children with chronic hepatitis B infection after the implementation of a strategy for prevention in those at high risk
- Autoimmune hepatitis in childhood
- Intravenous methylprednisolone pulse therapy for children with autoimmune hepatitis
- A case of infantile cholestasis with progressive renal insufficiency
- Detection of human herpesvirus 7 DNA in the cerebrospinal fluid of a child with exanthem subitum
- Hepatitis B precore mutant in children with chronic hepatitis B virus infection
- Rapid detection of hepatitis C virus by direct reverse transcription-polymerase chain reaction
- Stem Cell Plasticity in the Hematopoietic System
- Identification of a Response Element for Vitamin D3 and Retinoic Acid in the Promoter Region of the Human Fructose-1,6-bisphosphatase Gene^1
- Modifications in electrospray tandem mass spectrometry for a neonatal-screening pilot study in Japan
- Shift in the buoyant density of hepatitis C virus particles in infants infected by mother-to-infant transmission
- Idiopathic Prepubertal Gynecomastia of Familial Form Associated with a Large Intake of Cow's Milk
- Photoluminescence Enhancement in Tetrakis(arylethynyl)silanes
- Tumor Necrosis Factor Receptor-associated Periodic Syndrome Mimicking Systemic Juvenile Idiopathic Arthritis
- Pre-S2 deletion mutants of hepatitis B virus could have an important role in hepatocarcinogenesis in Asian children
- Changing Prevalence and Severity of Childhood Allergic Diseases in Kyoto, Japan, from 1996 to 2006
- Steroid-sensitive nephrotic syndrome in two families
- A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometry
- Stem cell plasticity in hematopoietic system
- Stable-isotope dilution gas chromatography-mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screening
- The cytosolic pattern-recognition receptor Nod2 and inflammatory granulomatous disorders
- Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan
- Epidemiological survey of Japanese children infected with hepatitis B and C viruses
- Does the spread of hepatitis B virus genotype A increase the risk of intrafamilial transmission in Japan?
- Plasma brain natriuretic peptide concentrations in patients with Kawasaki disease
- A case of congenital nasal pyriform aperture stenosis
- Hematopoietic stem cell transplantation with reduced intensity conditioning from a family haploidentical donor in an infant with familial hemophagocytic lymphohistocytosis
- Clinical features of children with pneumonia from swine-origin influenza A virus H1N1 : A single center experience in Japan
- A Japanese case of familial Mediterranean fever with a MEFV gene mutation
- The Effect of Past Food Avoidance Due to Allergic Symptoms on the Growth of Children at School Age
- Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation
- The Inflammasome, an Innate Immunity Guardian, Participates in Skin Urticarial Reactions and Contact Hypersensitivity
- Abnormal Fatty Acid Composition of Lymphocytes of Biotin-Deficient Rats.
- Risk factors for mother-to-child transmission of hepatitis C virus : Maternal high viral load and fetal exposure in the birth canal
- Easy-to-use phylogenetic analysis system for hepatitis B virus infection
- Guidance on the use of canakinumab in patients with cryopyrin-associated periodic syndrome in Japan