T Yorifuji

Summary

Affiliation: Kyoto University
Country: Japan

Publications

  1. doi Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus
    Tohru Yorifuji
    Department of Pediatric Endocrinology and Metabolism, Children s Medical Center, Osaka City General Hospital, 2 13 22 Miyakojima Hondori, Miyakojima, Osaka 534 0021, Japan
    Pediatr Diabetes 13:26-32. 2012
  2. doi Craniotabes in normal newborns: the earliest sign of subclinical vitamin D deficiency
    Junko Yorifuji
    Department of Pediatrics, Kyoto University Hospital, 54 Shogoin Sakyo, Kyoto 606 8507, Japan
    J Clin Endocrinol Metab 93:1784-8. 2008
  3. ncbi Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics
    T Yorifuji
    Department of Pediatrics, Kyoto University Hospital, Japan
    Hum Genet 104:476-9. 1999
  4. ncbi The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus
    Tohru Yorifuji
    Department of Pediatrics, Kyoto University Hospital, 54 Shogoin Sakyo, Kyoto 606 8507, Japan
    J Clin Endocrinol Metab 90:3174-8. 2005
  5. ncbi Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism
    Tohru Yorifuji
    Department of Pediatrics, Kyoto University Hospital, Kyoto 606 8507, Japan
    J Clin Endocrinol Metab 89:2905-8. 2004
  6. ncbi Living-donor liver transplantation for propionic acidaemia
    T Yorifuji
    Department of Pediatrics, Kyoto University Hospital, 54 Shogoin Sakyo, Kyoto 606 8507, Japan
    J Inherit Metab Dis 27:205-10. 2004
  7. ncbi Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications
    Tohru Yorifuji
    Department of Pediatrics, Kyoto University Hospital, 54 Shogoin Sakyo, Kyoto 606 8507, Japan
    Hum Genet 111:161-5. 2002
  8. ncbi Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency
    J Muroi
    Department of Pediatrics, Kyoto University Hospital, Japan
    Hum Genet 107:320-6. 2000
  9. ncbi Relatively longer hand in patients with Ullrich-Turner syndrome
    A Uematsu
    Department of Pediatrics, Kyoto University, Japan
    Am J Med Genet 82:254-6. 1999
  10. ncbi Identification of a novel single base-pair polymorphism in the glutamate dehydrogenase (GLUD1) gene
    J Muroi
    Department of Pediatrics, Kyoto University Hospital, Japan
    J Hum Genet 44:268-9. 1999

Collaborators

Detail Information

Publications32

  1. doi Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus
    Tohru Yorifuji
    Department of Pediatric Endocrinology and Metabolism, Children s Medical Center, Osaka City General Hospital, 2 13 22 Miyakojima Hondori, Miyakojima, Osaka 534 0021, Japan
    Pediatr Diabetes 13:26-32. 2012
    ..In Asians, mutations in the known maturity-onset diabetes of the young (MODY) genes have been identified in only <15% of patients. These results were obtained mostly through studies on adult patients...
  2. doi Craniotabes in normal newborns: the earliest sign of subclinical vitamin D deficiency
    Junko Yorifuji
    Department of Pediatrics, Kyoto University Hospital, 54 Shogoin Sakyo, Kyoto 606 8507, Japan
    J Clin Endocrinol Metab 93:1784-8. 2008
    ..Craniotabes in otherwise normal neonates has been regarded as physiological and left untreated...
  3. ncbi Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics
    T Yorifuji
    Department of Pediatrics, Kyoto University Hospital, Japan
    Hum Genet 104:476-9. 1999
    ..The mechanism leading to the activation of GDH, however, is not always related to the loss of GTP inhibition as was originally suggested...
  4. ncbi The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus
    Tohru Yorifuji
    Department of Pediatrics, Kyoto University Hospital, 54 Shogoin Sakyo, Kyoto 606 8507, Japan
    J Clin Endocrinol Metab 90:3174-8. 2005
    ..Known genes in maturity-onset diabetes of the young account for only a fraction of families with dominantly inherited diabetes in Japan. There should be as-yet-unidentified genes that account for the rest of the patients...
  5. ncbi Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism
    Tohru Yorifuji
    Department of Pediatrics, Kyoto University Hospital, Kyoto 606 8507, Japan
    J Clin Endocrinol Metab 89:2905-8. 2004
    ..In addition, the two cases described here show that additional factors, genetic or environmental, can have a significant influence on the phenotypic expression of HNF-1beta mutations...
  6. ncbi Living-donor liver transplantation for propionic acidaemia
    T Yorifuji
    Department of Pediatrics, Kyoto University Hospital, 54 Shogoin Sakyo, Kyoto 606 8507, Japan
    J Inherit Metab Dis 27:205-10. 2004
    ..Adequate protein restriction and medication need to be maintained even after successful transplantation...
  7. ncbi Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications
    Tohru Yorifuji
    Department of Pediatrics, Kyoto University Hospital, 54 Shogoin Sakyo, Kyoto 606 8507, Japan
    Hum Genet 111:161-5. 2002
    ..Taking into consideration previous findings regarding PCCB mutations, it appears that this gene is particularly prone to posttranscriptional modifications such as missense mediated exon skipping, mRNA decay, or rapid product degradation...
  8. ncbi Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency
    J Muroi
    Department of Pediatrics, Kyoto University Hospital, Japan
    Hum Genet 107:320-6. 2000
    ..In general, patients with null-activity mutations presented earlier in life, whereas those with residual activities presented later...
  9. ncbi Relatively longer hand in patients with Ullrich-Turner syndrome
    A Uematsu
    Department of Pediatrics, Kyoto University, Japan
    Am J Med Genet 82:254-6. 1999
    ..We conclude that relatively longer hands are a common manifestation of UTS and that this parameter is useful for the diagnosis of the syndrome among short females, who usually need chromosome analysis...
  10. ncbi Identification of a novel single base-pair polymorphism in the glutamate dehydrogenase (GLUD1) gene
    J Muroi
    Department of Pediatrics, Kyoto University Hospital, Japan
    J Hum Genet 44:268-9. 1999
    ..This polymorphism should prove useful for the study of human disorders with altered ammonia and/or blood glucose levels...
  11. ncbi Successful living-donor liver transplantation from an asymptomatic carrier mother in ornithine transcarbamylase deficiency
    H Nagasaka
    Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
    J Pediatr 138:432-4. 2001
    ..One-year monitoring of plasma amino acid and urinary orotate/orotidine levels revealed no abnormality in the urea cycle in either subject...
  12. ncbi Intractable diarrhea after liver transplantation for Byler's disease: successful treatment with bile adsorptive resin
    Hiroto Egawa
    Departments of Transplant Surgery, Kurume University, Kurume, Japan
    Liver Transpl 8:714-6. 2002
    ..Four of these patients who were followed up for 1 year registered a significant height gain. Also, the cause of postoperative diarrhea and growth retardation in patients with Byler's disease after liver transplantation is discussed...
  13. ncbi Earlier initiation of GH therapy does not influence adult height but enables earlier start of pubertal induction in children with multiple pituitary hormone deficiency
    Masahiko Kawai
    Department of Pediatrics, Faculty of Medicine, Kyoto University, Kyoto, Japan
    Clin Endocrinol (Oxf) 60:608-12. 2004
    ..In this study, we assessed the influence of timing of initiation of GH therapy on adult height and the time of initiation of pubertal induction...
  14. doi Living-donor liver transplantation for progressive familial intrahepatic cholestasis
    Tomohide Hori
    Division of Hepato Biliary Pancreatic and Transplant Surgery, Department of Surgery, Kyoto University Hospital, 54 Shogoinkawara cho, Sakyo ku, Kyoto, 606 8507, Japan
    World J Surg 35:393-402. 2011
    ..Progressive familial intrahepatic cholestasis (PFIC) results in liver cirrhosis during the disease course, although the etiology includes unknown mechanisms. Some PFIC patients require liver transplantation (LT)...
  15. doi A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency
    T Tajima
    Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
    Exp Clin Endocrinol Diabetes 118:405-9. 2010
    ..The objective of the study was to clarify the molecular basis of a Japanese patient of CPHD with a small anterior pituitary and an ectopic posterior pituitary...
  16. ncbi Fibrillin I gene polymorphism is associated with tall stature of normal individuals
    Mitsukazu Mamada
    Department of Pediatrics, Kyoto University Hospital, 54 Shogoin Sakyo, Kyoto 606 8507, Japan
    Hum Genet 120:733-5. 2007
    ..One of the SNPs, rs8033037, in exon 15 showed a significant correlation (P = 0.0061) with the adult height, suggesting that FBN1 is one of the 'stature genes' of normal individuals...
  17. doi Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation
    Takanobu Otomo
    Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
    J Hum Genet 54:145-51. 2009
    ..These results show the effective molecular diagnosis of ML II and III and also provide phenotypic prediction. This is the first and comprehensive report of molecular analysis for ML patients of Japanese origin...
  18. ncbi Intracranial aneurysms in Ehlers-Danlos syndrome type IV in early childhood
    T Kato
    Department of Pediatrics, Faculty of Medicine, Kyoto University, Kyoto, Japan
    Pediatr Neurol 25:336-9. 2001
    ..Ehlers-Danlos syndrome type IV should be considered in the differential diagnosis of cerebrovascular disorder and stroke in early childhood...
  19. ncbi Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism
    H Hattori
    Department of Pediatrics, Kyoto University School of Medicine, Kyoto, Japan
    Brain Dev 22:449-50. 2000
    ..The convulsions occurred in clusters at age 2.5 months, but they never recurred. This patient's clinical features were phenotypically indistinguishable from those of infantile convulsions and choreoathetosis (ICCA) syndrome..
  20. doi Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation
    Aya Miyagawa-Hayashino
    Department of Diagnostic Pathology, Kyoto University Hospital, Kyoto, Japan
    Liver Transpl 15:610-8. 2009
    ....
  21. ncbi Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45,X karyotype
    Ayumi Uematsu
    Department of Pediatrics, Kyoto University Hospital, Kyoto, Japan
    Am J Med Genet 111:134-9. 2002
    ....
  22. ncbi Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo 160 8582, Japan
    J Clin Endocrinol Metab 86:5498-508. 2001
    ....
  23. ncbi Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency
    Keiji Kurokawa
    Department of Pediatrics, Kyoto University Hospital, 54 Shogoin Sakyo, Kyoto, Japan
    J Hum Genet 52:349-54. 2007
    ..We also identified two common polymorphisms that might be useful for simple linkage analysis in prenatal diagnosis. The accumulated clinical data will also help to reveal the clinical presentation of this rare disorder in Japan...
  24. ncbi Resistance to parathyroid hormone in two patients with familial intrahepatic cholestasis: possible involvement of the ATP8B1 gene in calcium regulation via parathyroid hormone
    Hironori Nagasaka
    Department of Pediatrics, Hokkaido University Graduate School of Medicine, Japan
    J Pediatr Gastroenterol Nutr 39:404-9. 2004
  25. ncbi Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency
    Akiko Tamamori
    Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka 545 8585, Japan
    Pediatr Res 56:608-14. 2004
    ..NMS for citrin deficiency (frequency of homozygote with SLC25A13 mutation: 1/10,000-1/38,000 in East Asia) will be useful for clarification of the clinical course, treatment, and prevention of this disease...
  26. doi Fluctuation of lipoprotein metabolism linked with bile acid-activated liver nuclear receptors in Alagille syndrome
    Hironori Nagasaka
    Division of Metabolism, Chiba Children s Hospital, Chiba 266 0007, Japan
    Atherosclerosis 198:434-40. 2008
    ..In the incomplete AGS parents, TBA and lipoprotein parameters showed little fluctuation. In summary, cholestasis is closely related to dyslipidemia and hepatic nuclear receptor expression in AGS patients...
  27. ncbi Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency
    Hironori Nagasaka
    Division of Metabolism, Chiba Children s Hospital, Chiba 266 0007, Japan
    Eur J Pediatr 165:618-24. 2006
    ..In addition to height and body weight, blood levels of proteins, lipids, growth hormone (GH), insulin-like growth factor-I (IGF-I) and IGF-binding protein -3 (IGFBP-3) were monitored...
  28. ncbi Three novel mutations in Japanese patients with 21-hydroxylase deficiency
    Takeshi Usui
    Clinical Research Institute, Center for Endocrine and Metabolic Disease, Kyoto National Hospital, Kyoto, Japan
    Horm Res 61:126-32. 2004
    ..This study analyzed the mutation of 21-hydroxylase deficiency (21-OHD) in 36 unrelated Japanese patients with congenital adrenal hyperplasia (CAH)...
  29. ncbi Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk
    Hironori Nagasaka
    Division of Metabolism, Chiba Children s Hospital, 579 1 Heta Cho Midori Ku, Chiba, Japan
    Eur J Pediatr 166:1009-16. 2007
    ....
  30. ncbi Depletion of high-density lipoprotein and appearance of triglyceride-rich low-density lipoprotein in a Japanese patient with FIC1 deficiency manifesting benign recurrent intrahepatic cholestasis
    Hironori Nagasaka
    Division of Metabolism, Chiba Children s Hospital, Heta Cho, Midori ku, Chiba, Japan
    J Pediatr Gastroenterol Nutr 45:96-105. 2007
    ..This study was performed to investigate the detailed lipoprotein metabolism in benign recurrent intrahepatic cholestasis (BRIC) caused by FIC1 deficiency...
  31. ncbi Evaluation of risk for atherosclerosis in Alagille syndrome and progressive familial intrahepatic cholestasis: two congenital cholestatic diseases with different lipoprotein metabolisms
    Hironori Nagasaka
    Division of Metabolism, Chiba Children s Hospital, Japan
    J Pediatr 146:329-35. 2005
    ..To evaluate the risk for atherosclerosis in Alagille syndrome (AGS) and progressive familial intrahepatic cholestasis (PFIC) on the basis of lipoprotein metabolism and by ultrasonography...
  32. ncbi [Hypopituitarism of genetic etiologies]
    Tohru Yorifuji
    Department of Pediatrics, Kyoto University Graduate School of Medicine
    Nihon Rinsho . 2006