PubRank

Toshiyuki Fukao

Author PubWeight™ 53.39‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A treatable new cause of chorea: beta-ketothiolase deficiency. Mov Disord 2013 1.47
2 Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM. J Biol Chem 2002 1.41
3 Propranolol for intractable diffuse lymphangiomatosis. N Engl J Med 2011 1.32
4 Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet 2009 1.28
5 Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function. Biochemistry 2007 1.22
6 Propranolol as an alternative treatment option for pediatric lymphatic malformation. Tohoku J Exp Med 2013 1.19
7 Differences between human and rodent pancreatic islets: low pyruvate carboxylase, atp citrate lyase, and pyruvate carboxylation and high glucose-stimulated acetoacetate in human pancreatic islets. J Biol Chem 2011 1.11
8 Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. J Clin Immunol 2012 1.08
9 Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay. Mol Genet Metab 2012 0.98
10 Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA. Pediatr Res 2004 0.94
11 Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2. Mol Genet Metab 2008 0.93
12 High resolution crystal structures of human cytosolic thiolase (CT): a comparison of the active sites of human CT, bacterial thiolase, and bacterial KAS I. J Mol Biol 2005 0.93
13 A novel single-nucleotide substitution, Leu 467 Pro, in the interferon-gamma receptor 1 gene associated with allergic diseases. Int J Mol Med 2003 0.92
14 Reversible cerebrospinal fluid edema and porencephalic cyst, a rare complication of ventricular catheter. J Clin Neurosci 2010 0.91
15 Escherichia coli O-157-induced hemolytic uremic syndrome: Usefulness of SCWP score for the prediction of neurological complication. Pediatr Int 2009 0.90
16 Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency. Mol Genet Metab 2009 0.90
17 Successful treatment of neonatal herpes simplex-type 1 infection complicated by hemophagocytic lymphohistiocytosis and acute liver failure. Tohoku J Exp Med 2008 0.89
18 Lower succinyl-CoA:3-ketoacid-CoA transferase (SCOT) and ATP citrate lyase in pancreatic islets of a rat model of type 2 diabetes: knockdown of SCOT inhibits insulin release in rat insulinoma cells. Arch Biochem Biophys 2010 0.89
19 Clinical improvement of diffuse lymphangiomatosis with pegylated interferon alfa-2b therapy: case report and review of the literature. Pediatr Hematol Oncol 2007 0.88
20 Hyper-IgM syndrome with putative dominant negative mutation in activation-induced cytidine deaminase. J Allergy Clin Immunol 2003 0.87
21 Site-directed mutagenesis of the ATM promoter: consequences for response to proliferation and ionizing radiation. Genes Chromosomes Cancer 2003 0.87
22 Age-related changes in intracellular cytokine profiles and Th2 dominance in allergic children. Pediatr Allergy Immunol 2006 0.86
23 Inborn errors of ketone body utilization. Pediatr Int 2015 0.86
24 Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase. Tohoku J Exp Med 2008 0.86
25 Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II. J Hum Genet 2005 0.86
26 The function of RecQ helicase gene family (especially BLM) in DNA recombination and joining. Adv Biophys 2004 0.84
27 Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency. Mol Genet Metab 2008 0.83
28 Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene. Mol Genet Metab 2006 0.83
29 Refractory chronic pleurisy caused by Helicobacter equorum-like bacterium in a patient with X-linked agammaglobulinemia. J Clin Microbiol 2011 0.83
30 A novel single-nucleotide substitution, Glu 4 Lys, in the leukotriene C4 synthase gene associated with allergic diseases. Int J Mol Med 2005 0.83
31 Augmented cell death with Bloom syndrome helicase deficiency. Mol Med Rep 2011 0.82
32 Regulation of the Atm promoter in vivo. Genes Chromosomes Cancer 2006 0.82
33 A novel TRPS1 mutation in a family with tricho-rhino-phalangeal syndrome type 1. J Dermatol 2014 0.82
34 Identification of Alu-mediated, large deletion-spanning exons 2-4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency. Mol Genet Metab 2006 0.82
35 A novel polymorphism, E254K, in the 5-lipoxygenase gene associated with bronchial asthma. Int J Mol Med 2008 0.82
36 Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure. Mol Genet Metab 2007 0.82
37 A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. J Inherit Metab Dis 2013 0.82
38 Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene: study on intermediates of OXCT1 transcripts in fibroblasts. Hum Mutat 2013 0.81
39 Age-related changes in BAFF and APRIL profiles and upregulation of BAFF and APRIL expression in patients with primary antibody deficiency. Int J Mol Med 2008 0.81
40 Vitamin K-deficient intracranial hemorrhage as the first symptom of cytomegalovirus hepatitis with cholestasis. Tohoku J Exp Med 2007 0.81
41 Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies. Brain Dev 2006 0.81
42 Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB. JIMD Rep 2015 0.80
43 Refractory osteomyelitis caused by bacille Calmette-Guérin vaccination: a case report. Diagn Microbiol Infect Dis 2007 0.80
44 Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation. Tohoku J Exp Med 2010 0.80
45 Paclitaxel-based chemotherapy for aggressive kaposiform hemangioendothelioma of the temporomastoid region: Case report and review of the literature. Head Neck 2012 0.80
46 A family having type 2B von Willebrand disease with an R1306W mutation: Severe thrombocytopenia leads to the normalization of high molecular weight multimers. Thromb Res 2009 0.79
47 Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 2002 0.79
48 IL-10 plays an important role as an immune-modulator in the pathogenesis of atopic diseases. Mol Med Rep 2011 0.79
49 A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD. Mol Genet Metab 2008 0.79
50 Hypothermia augments NF-kappaB activity and the production of IL-12 and IFN-gamma. Allergol Int 2008 0.79
51 High regression rate of coronary aneurysms developed in patients with immune globulin-resistant Kawasaki disease treated with steroid pulse therapy. Tohoku J Exp Med 2010 0.79
52 Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations. Tohoku J Exp Med 2010 0.78
53 Congenital inner ear malformations without sensorineural hearing loss in children. Int J Pediatr Otorhinolaryngol 2009 0.78
54 Relatively common mutations of the Bloom syndrome gene in the Japanese population. Int J Mol Med 2004 0.78
55 Age-related changes of transforming growth factor beta1 in Japanese children. Allergol Int 2009 0.77
56 The response of bovine beta-lactoglobulin-specific T-cell clones to single amino acid substitution of T-cell core epitope. Pediatr Allergy Immunol 2008 0.77
57 Various expression patterns of alpha1 and alpha2 genes in IgA deficiency. Allergol Int 2009 0.77
58 Pediatric acute lymphoblastic leukemia mimicking Henoch-Schönlein purpura. Pediatr Int 2011 0.77
59 Successful Everolimus Treatment of Kaposiform Hemangioendothelioma With Kasabach-Merritt Phenomenon: Clinical Efficacy and Adverse Effects of mTOR Inhibitor Therapy. J Pediatr Hematol Oncol 2016 0.77
60 Total IgE at 6 months predicts remittance or persistence of atopic dermatitis at 14 months. Allergy Asthma Proc 2013 0.76
61 Lymphocyte Responses to Chymotrypsin- or Trypsin V-Digested beta-Lactoglobulin in Patients with Cow's Milk Allergy. Allergy Asthma Clin Immunol 2007 0.75
62 Relationship between the benefits of suplatast tosilate, a Th2 cytokine inhibitor, and gene polymorphisms in children with bronchial asthma. Exp Ther Med 2010 0.75
63 Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine β-Synthase Deficiency. Tohoku J Exp Med 2015 0.75
64 Structural property of soybean protein P34 and specific IgE response to recombinant P34 in patients with soybean allergy. Int J Mol Med 2011 0.75
65 Clinical and bacteriological evaluation of the efficacy of piperacillin in children with pneumonia. J Infect Chemother 2007 0.75
66 A common variable immunodeficient patient who developed acute disseminated encephalomyelitis followed by the Lennox-Gastaut syndrome. Pediatr Allergy Immunol 2005 0.75
67 Pharmacokinetics of beclomethasone dipropionate in an hydrofluoroalkane-134a propellant system in Japanese children with bronchial asthma. Allergol Int 2006 0.75
68 Repeated-dose pharmacokinetics of inhaled ciclesonide (CIC-HFA) in Japanese children with bronchial asthma: a phase I study. Allergol Int 2012 0.75
69 Merkel cell polyomavirus-positive Merkel cell carcinoma in a patient with epidermodysplasia verruciformis. Acta Derm Venereol 2015 0.75
70 [Lymphangiomatosis and Gorham-Stout disease]. Nihon Rinsho 2015 0.75
71 Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1. Anal Bioanal Chem 2012 0.75
72 [Diagnostic approach for the autoinflammatory syndromes based on the molecular mechanism of innate immunity]. Arerugi 2009 0.75
73 Translocation (1;10)(p34;p15) in infant acute myeloid leukemia with extramedullary infiltration in multiple sites. Cancer Genet Cytogenet 2009 0.75
74 [QOL questionnaire for pediatric patients with bronchial asthma and their parents or caregivers. Preparation and evaluation of the short form version 2008 (Gifu)]. Arerugi 2008 0.75
75 Induction of α1 and α2 gene expression in selective immunoglobulin A deficiency. Mol Med Rep 2011 0.75
76 Mutation in the Q28SDD31SD site, but not in the two SQ sites of the survival of motor neuron protein, affects its foci formation. Int J Mol Med 2010 0.75
77 The function of RecQ helicase gene family (especially BLM) in DNA recombination and joining. Adv Biophys 2004 0.75
78 Anaphylactoid transfusion reactions associated with a positively charged white-cell reduction filter: a case report. Transfus Apher Sci 2008 0.75
79 Everolimus for Treatment of Pseudomyogenic Hemangioendothelioma. J Pediatr Hematol Oncol 2017 0.75
80 Effectiveness of Medium-Chain Triglyceride Oil Therapy in Two Japanese Citrin-Deficient Siblings: Evaluation Using Oral Glucose Tolerance Tests. Tohoku J Exp Med 2016 0.75
81 Facial palsy as an unusual presenting symptom associated with acute myeloid leukemia. Pediatr Int 2014 0.75
82 A positive Donath-Landsteiner test in paroxysmal cold haemoglobinuria. Eur J Haematol 2007 0.75
83 Diffuse large B-cell lymphoma presenting with osteolytic lesions in the bilateral femur. Eur J Haematol 2009 0.75
84 Successful treatment of pediatric immune thrombocytopenic purpura associated with ulcerative colitis. Pediatr Int 2011 0.75
85 Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 2012 0.75
86 A Heterozygous CFHR3-CFHR1 Gene Deletion in a Pediatric Patient With Transplant-associated Thrombotic Microangiopathy Who was Treated With Eculizumab. J Pediatr Hematol Oncol 2017 0.75