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Volumn 40, Issue 1, 2014, Pages

Involvement of endocrine system in a patient affected by Glycogen storage disease 1b: Speculation on the role of autoimmunity

Author keywords

Autoimmunity; Glycogen storage disease 1b; Growth hormone deficiency; Inflammatory bowel disease; Thyroiditis

Indexed keywords

ANTIBIOTIC AGENT; ANTINUCLEAR ANTIBODY; AUTOANTIBODY; CHOLINERGIC RECEPTOR ANTIBODY; COMPLEMENT COMPONENT C1Q ANTIBODY; COMPLEMENT COMPONENT C3D ANTIBODY; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DOUBLE STRANDED DNA ANTIBODY; GLUCOSE 6 PHOSPHATASE; GRANULOCYTE COLONY STIMULATING FACTOR; GROWTH HORMONE; HYDROCORTISONE; NEUTROPHIL CYTOPLASMIC ANTIBODY; PHOSPHOLIPID ANTIBODY; SOMATOMEDIN C; THYROGLOBULIN ANTIBODY; THYROID ANTIBODY; THYROTROPIN; UNCLASSIFIED DRUG;

EID: 84898009085     PISSN: 17208424     EISSN: 18247288     Source Type: Journal    
DOI: 10.1186/1824-7288-40-30     Document Type: Article
Times cited : (18)

References (20)
  • 1
    • 0000171986 scopus 로고    scopus 로고
    • Glycogen storage disease
    • New York: McGraw-Hill Scriver CR, Beaudet AL, Valle D, Sly WS, Kinzler V 8
    • Glycogen storage disease. Chen YT, The Metabolic and Molecular Bases of Inherited Disease New York: McGraw-Hill, Scriver CR, Beaudet AL, Valle D, Sly WS, Kinzler V, 8 2001 1521 1551
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 1521-1551
    • Chen, Y.T.1
  • 2
    • 0028799765 scopus 로고
    • Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c
    • 10.1172/JCI117645 7814621
    • Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. Lei KJ, Shelly LL, Lin B, Sidbury JB, Chen YT, Nordlie RC, J Clin Investig 1995 95 234 240 10.1172/JCI117645 7814621
    • (1995) J Clin Investig , vol.95 , pp. 234-240
    • Lei, K.J.1    Shelly, L.L.2    Lin, B.3    Sidbury, J.B.4    Chen, Y.T.5    Nordlie, R.C.6
  • 4
    • 1642575407 scopus 로고    scopus 로고
    • Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: Two years' follow-up of patients with a wide spectrum of gastrointestinal signs
    • 10.1080/08035250310007033 14971792
    • Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs. Melis D, Parenti G, Della Casa R, Sibilio M, Berni Canani R, Terrin G, Cucchiara S, Andria G, Acta Paediatr 2003 92 1415 1421 10.1080/08035250310007033 14971792
    • (2003) Acta Paediatr , vol.92 , pp. 1415-1421
    • Melis, D.1    Parenti, G.2    Della Casa, R.3    Sibilio, M.4    Berni Canani, R.5    Terrin, G.6    Cucchiara, S.7    Andria, G.8
  • 6
    • 73849119471 scopus 로고    scopus 로고
    • Vitamin e supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b
    • 10.1007/s00431-008-0889-5 19066956
    • Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b. Melis D, Della Casa R, Parini R, Rigoldi M, Cacciapuoti C, Marcolongo P, Benedetti A, Gaudieri V, Andria G, Parenti G, Eur J Pediatr 2009 168 1069 1074 10.1007/s00431-008- 0889-5 19066956
    • (2009) Eur J Pediatr , vol.168 , pp. 1069-1074
    • Melis, D.1    Della Casa, R.2    Parini, R.3    Rigoldi, M.4    Cacciapuoti, C.5    Marcolongo, P.6    Benedetti, A.7    Gaudieri, V.8    Andria, G.9    Parenti, G.10
  • 7
    • 0036392378 scopus 로고    scopus 로고
    • Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1
    • Consensus guidelines for management of glycogen storage disease type 1b-European Study on Glycogen Storage Disease Type 1. Visser G, Rake JP, Labrune P, Leonard JV, Moses S, Ullrich K, Wendel U, Smit GP, Eur J Pediatr 2002 168 Suppl 1 120 S123
    • (2002) Eur J Pediatr , vol.168 , Issue.SUPPL. 1
    • Visser, G.1    Rake, J.P.2    Labrune, P.3    Leonard, J.V.4    Moses, S.5    Ullrich, K.6    Wendel, U.7    Smit, G.P.8
  • 8
    • 82955233986 scopus 로고    scopus 로고
    • Neutrophils in the pathogenesis and manifestations of SLE
    • 10.1038/nrrheum.2011.132 21947176
    • Neutrophils in the pathogenesis and manifestations of SLE. Kaplan MJ, Nat Rev Rheumatol 2011 7 691 699 10.1038/nrrheum.2011.132 21947176
    • (2011) Nat Rev Rheumatol , vol.7 , pp. 691-699
    • Kaplan, M.J.1
  • 10
    • 33847278309 scopus 로고    scopus 로고
    • Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type i
    • 10.1016/j.jpeds.2006.11.056 17307551
    • Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. Melis D, Pivonello R, Parenti G, Della Casa R, Salerno M, Lombardi G, Sebastio G, Colao A, Andria G, J Pediatr 2007 150 300 305 10.1016/j.jpeds.2006.11.056 17307551
    • (2007) J Pediatr , vol.150 , pp. 300-305
    • Melis, D.1    Pivonello, R.2    Parenti, G.3    Della Casa, R.4    Salerno, M.5    Lombardi, G.6    Sebastio, G.7    Colao, A.8    Andria, G.9
  • 11
    • 77949486669 scopus 로고    scopus 로고
    • The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: Evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b
    • 10.1016/j.jpeds.2009.10.032 20022338
    • The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b. Melis D, Pivonello R, Parenti G, Della Casa R, Salerno M, Balivo F, Piccolo P, Di Somma C, Colao A, Andria G, J Pediatr 2010 156 663 670 10.1016/j.jpeds.2009.10.032 20022338
    • (2010) J Pediatr , vol.156 , pp. 663-670
    • Melis, D.1    Pivonello, R.2    Parenti, G.3    Della Casa, R.4    Salerno, M.5    Balivo, F.6    Piccolo, P.7    Di Somma, C.8    Colao, A.9    Andria, G.10
  • 14
    • 84857012483 scopus 로고    scopus 로고
    • The natural history of the normal/mild elevated TSH serum levels in children and adolescents with Hashimoto's thyroiditis and isolated hyperthyrotropinaemia: A 3-year follow-up
    • 10.1111/j.1365-2265.2011.04251.x 21981142
    • The natural history of the normal/mild elevated TSH serum levels in children and adolescents with Hashimoto's thyroiditis and isolated hyperthyrotropinaemia: a 3-year follow-up. Radetti G, Maselli M, Buzi F, Corrias A, Mussa A, Cambiaso P, Salerno M, Cappa M, Baiocchi M, Gastaldi R, Minerba L, Loche S, Clin Endocrinol (Oxf) 2012 76 394 398 10.1111/j.1365-2265.2011.04251.x 21981142
    • (2012) Clin Endocrinol (Oxf) , vol.76 , pp. 394-398
    • Radetti, G.1    Maselli, M.2    Buzi, F.3    Corrias, A.4    Mussa, A.5    Cambiaso, P.6    Salerno, M.7    Cappa, M.8    Baiocchi, M.9    Gastaldi, R.10    Minerba, L.11    Loche, S.12
  • 16
    • 0030114840 scopus 로고    scopus 로고
    • The association between immunodeficiency and the development of autoimmune disease
    • 10.1177/08959374960100011101 8934926
    • The association between immunodeficiency and the development of autoimmune disease. Sleasman JW, Adv Dent Res 1996 10 57 61 10.1177/ 08959374960100011101 8934926
    • (1996) Adv Dent Res , vol.10 , pp. 57-61
    • Sleasman, J.W.1
  • 17
    • 3042854517 scopus 로고    scopus 로고
    • Long-term monitoring of insulin sensitivity in growth hormone-deficient adults on substitutive recombinant human growth hormone therapy
    • 10.1016/j.metabol.2003.11.025 15164321
    • Long-term monitoring of insulin sensitivity in growth hormone-deficient adults on substitutive recombinant human growth hormone therapy. Giavoli C, Porretti S, Ronchi CL, Cappiello V, Ferrante E, Orsi E, Arosio M, Beck-Peccoz P, Metabolism 2004 53 740 743 10.1016/j.metabol.2003.11.025 15164321
    • (2004) Metabolism , vol.53 , pp. 740-743
    • Giavoli, C.1    Porretti, S.2    Ronchi, C.L.3    Cappiello, V.4    Ferrante, E.5    Orsi, E.6    Arosio, M.7    Beck-Peccoz, P.8
  • 19
    • 0034503159 scopus 로고    scopus 로고
    • Hepatic adenoma associated with recombinant human growth hormone therapy in a patient with Turner's syndrome
    • 10.1159/000051977 11155014
    • Hepatic adenoma associated with recombinant human growth hormone therapy in a patient with Turner's syndrome. Espat J, Chamberlain RS, Sklar C, Blumgart LH, Dig Surg 2000 17 640 643 10.1159/000051977 11155014
    • (2000) Dig Surg , vol.17 , pp. 640-643
    • Espat, J.1    Chamberlain, R.S.2    Sklar, C.3    Blumgart, L.H.4
  • 20
    • 84897984778 scopus 로고    scopus 로고
    • Quality of life in adult patients with glycogen storage disease type I: Results of a multicenter Italian study
    • [Epub ahead of print]
    • Quality of life in adult patients with glycogen storage disease type I: results of a multicenter Italian study. Sechi A, Deroma L, Paci S, Lapolla A, Carubbi F, Burlina A, Rigoldi M, Di Rocco M, JIMD Rep 2013 [Epub ahead of print]
    • (2013) JIMD Rep
    • Sechi, A.1    Deroma, L.2    Paci, S.3    Lapolla, A.4    Carubbi, F.5    Burlina, A.6    Rigoldi, M.7    Di Rocco, M.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.