메뉴 건너뛰기




Volumn 67, Issue 7, 2000, Pages 497-501

Glycogen storage disease type I a: Frequency and clinical course in Turkish children

Author keywords

Children; Glycogen storage disease type Ia

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 1; HEPATOMEGALY; HUMAN; INFANT; MALE; NEWBORN; PRESCHOOL CHILD; RETROSPECTIVE STUDY; TURKEY (REPUBLIC);

EID: 0034220033     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02760476     Document Type: Article
Times cited : (15)

References (31)
  • 2
    • 85037505548 scopus 로고    scopus 로고
    • Glycogenosis type Ia/ Von Gierke disease/Glucose-6-phosphatase deficiency
    • London; Chapman & Hall Medical
    • st edn, London; Chapman & Hall Medical, 1998; 330-340.
    • (1998) st Edn , pp. 330-340
    • Nyhan, W.L.1    Özand, P.T.2
  • 3
    • 0008416448 scopus 로고
    • Increased serum biotinidase activity in glycogen storage disease type Ia
    • Hug G, Chuck G, Tsoras M. Increased serum biotinidase activity in glycogen storage disease type Ia. Pediatr Res 1994; 35:203A.
    • (1994) Pediatr Res , vol.35
    • Hug, G.1    Chuck, G.2    Tsoras, M.3
  • 4
    • 0029092727 scopus 로고
    • The hepatic glycogen storage disease problems beyond the childhood
    • Lee PJ, Leonard JV. The hepatic glycogen storage disease problems beyond the childhood. J Inher Metab Dis 1995; 18:462-472.
    • (1995) J Inher Metab Dis , vol.18 , pp. 462-472
    • Lee, P.J.1    Leonard, J.V.2
  • 5
    • 0027381941 scopus 로고
    • Mutations in the glucose-6 phosphatase gene that cause glycogen storage disease type Ia
    • Lei K, Shely LL, Pan C, Sidbury JB, Chou JY. Mutations in the glucose-6 phosphatase gene that cause glycogen storage disease type Ia. Science 1993; 262: 580-583.
    • (1993) Science , vol.262 , pp. 580-583
    • Lei, K.1    Shely, L.L.2    Pan, C.3    Sidbury, J.B.4    Chou, J.Y.5
  • 6
    • 0028957250 scopus 로고
    • Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type Ia: R83C in six Jews and a novel V166G mutation in a Muslim Arab
    • Parvari R, Moses S, Hershkovitz E, Carmi R, Bashan N. Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type Ia: R83C in six Jews and a novel V166G mutation in a Muslim Arab. J Inher Metab Dis 1995; 18: 21-27.
    • (1995) J Inher Metab Dis , vol.18 , pp. 21-27
    • Parvari, R.1    Moses, S.2    Hershkovitz, E.3    Carmi, R.4    Bashan, N.5
  • 7
    • 0029121574 scopus 로고
    • Genetic basis of glycogen storage disease type Ia: Prevalent mutations at the glucose-6-phosphatase locus
    • Lei K, Chen YT, Chen H et al. Genetic basis of glycogen storage disease type Ia: Prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet 1995; 57: 766-771.
    • (1995) Am J Hum Genet , vol.57 , pp. 766-771
    • Lei, K.1    Chen, Y.T.2    Chen, H.3
  • 8
    • 0030934236 scopus 로고    scopus 로고
    • Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia, and carrier screening in healthy volunteers
    • Okubo M, Aoyama Y, Kishimoto M, Shishiba Y, Murase T. Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia, and carrier screening in healthy volunteers. Clin Genet 1997; 51: 179-183.
    • (1997) Clin Genet , vol.51 , pp. 179-183
    • Okubo, M.1    Aoyama, Y.2    Kishimoto, M.3    Shishiba, Y.4    Murase, T.5
  • 9
    • 0031953729 scopus 로고    scopus 로고
    • Glucose-6-phophatase gene (727G-T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type Ia
    • Lam CW, But WM, Shek CC et al. Glucose-6-phophatase gene (727G-T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type Ia. Clin Genet 1998; 53: 184-190.
    • (1998) Clin Genet , vol.53 , pp. 184-190
    • Lam, C.W.1    But, W.M.2    Shek, C.C.3
  • 10
    • 0031940021 scopus 로고    scopus 로고
    • A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type Ia
    • Keller KM, Schütz M, Med C et al. A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type Ia. J Pediatr 1998; 132 : 361-362.
    • (1998) J Pediatr , vol.132 , pp. 361-362
    • Keller, K.M.1    Schütz, M.2    Med, C.3
  • 11
    • 0031847940 scopus 로고    scopus 로고
    • A novel mutation in a Brazilian patient with glycogen storage disease type Ia
    • Sartorato EL, Resi FC, Norato DY, Hackel C. A novel mutation in a Brazilian patient with glycogen storage disease type Ia. J Inher Metab Dis 1998; 21: 447.
    • (1998) J Inher Metab Dis , vol.21 , pp. 447
    • Sartorato, E.L.1    Resi, F.C.2    Norato, D.Y.3    Hackel, C.4
  • 12
    • 0031816628 scopus 로고    scopus 로고
    • Molecular aspects of glycogen storage disease type Ia in Turkish patients: A novel mutation in the glucose-6-phosphatase gene
    • Hüner G, Podskarbi T, Schütz M, et al. Molecular aspects of glycogen storage disease type Ia in Turkish patients: A novel mutation in the glucose-6-phosphatase gene. J Inher Metab Dis 1998; 21: 445-446.
    • (1998) J Inher Metab Dis , vol.21 , pp. 445-446
    • Hüner, G.1    Podskarbi, T.2    Schütz, M.3
  • 13
    • 4243731947 scopus 로고
    • Type I Von Gierke Glycogenosis (Clinical and laboratory findings of 45 cases)
    • Koçak N, Özsoylu S, Ciliv G. Type I Von Gierke Glycogenosis (Clinical and laboratory findings of 45 cases). Çocuk Sagligi ve Hastaliklari Dergisi 1989; 32: 209-214.
    • (1989) Çocuk Sagligi Ve Hastaliklari Dergisi , vol.32 , pp. 209-214
    • Koçak, N.1    Özsoylu, S.2    Ciliv, G.3
  • 15
    • 0006303576 scopus 로고
    • Urinary stone disease
    • Kher KK, Makker SP, eds. New York; McGraw-Hill Inc.
    • Kher KK. Urinary stone disease. In: Kher KK, Makker SP, eds. Clinical Pediatric Nephrology New York; McGraw-Hill Inc., 1992; 699-719.
    • (1992) Clinical Pediatric Nephrology , pp. 699-719
    • Kher, K.K.1
  • 18
    • 0027238381 scopus 로고
    • The long-term outcome of patients with glycogen storage disease type Ia
    • Smit GPA. The long-term outcome of patients with glycogen storage disease type Ia. Eur J Pediatr 1993; 152 (Suppl 1): 52-55.
    • (1993) Eur J Pediatr , vol.152 , Issue.1 SUPPL. , pp. 52-55
    • Smit, G.P.A.1
  • 20
    • 0000171986 scopus 로고
    • Glycogen storage disease
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York; McGraw-Hill
    • th edn. New York; McGraw-Hill, 1995; 935-965.
    • (1995) th Edn. , pp. 935-965
    • Chen, Y.-T.1    Burchell, A.2
  • 21
    • 0025325109 scopus 로고
    • Pathophysiology and dietary treatment of the glycogen storage diseases
    • Moses SW. Pathophysiology and dietary treatment of the glycogen storage diseases. J Pediatr Gastroenterol Nutr 1990; 11: 155-174.
    • (1990) J Pediatr Gastroenterol Nutr , vol.11 , pp. 155-174
    • Moses, S.W.1
  • 22
    • 0023442509 scopus 로고
    • Glycogen storage disease type I: Laboratory data and diagnosis
    • Wakid N, Bitar J, Allam C. Glycogen storage disease type I: Laboratory data and diagnosis. Clin Chem 1987; 33: 2008-2010.
    • (1987) Clin Chem , vol.33 , pp. 2008-2010
    • Wakid, N.1    Bitar, J.2    Allam, C.3
  • 23
    • 0026537252 scopus 로고
    • Renal function and kidney size in glycogen storage disease type I
    • Reitsma-Bierens W, Smit G, Troelstra JA. Renal function and kidney size in glycogen storage disease type I. Pediatr Nephrol 1992; 6 : 236-238.
    • (1992) Pediatr Nephrol , vol.6 , pp. 236-238
    • Reitsma-Bierens, W.1    Smit, G.2    Troelstra, J.A.3
  • 24
    • 0030816048 scopus 로고    scopus 로고
    • Metabolic control and renal dysfunction in type I glycogen storage disease
    • Wolfsdorf JI, Laffel LMB, Crigler JF. Metabolic control and renal dysfunction in type I glycogen storage disease. J Inher Metab Dis 1997; 20: 559-568.
    • (1997) J Inher Metab Dis , vol.20 , pp. 559-568
    • Wolfsdorf, J.I.1    Laffel, L.M.B.2    Crigler, J.F.3
  • 25
    • 0025975050 scopus 로고
    • Type I glycogen storage disease: Kidney involvement, pathogenesis and its treatment
    • Chen Y-T. Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment. Pediatr Nephrol 1991; 5: 71-76.
    • (1991) Pediatr Nephrol , vol.5 , pp. 71-76
    • Chen, Y.-T.1
  • 27
    • 0028021770 scopus 로고
    • Reability of histological criteria in glycogen storage disease of the liver
    • Jevon GP, Finegold MJ. Reability of histological criteria in glycogen storage disease of the liver. Pediatr Pathol 1994; 14: 709-721.
    • (1994) Pediatr Pathol , vol.14 , pp. 709-721
    • Jevon, G.P.1    Finegold, M.J.2
  • 28
    • 0027218684 scopus 로고
    • Nutritional management of glycogen storage disease
    • Parker PH, Ballew M, Greene HL. Nutritional management of glycogen storage disease. Annu Rev Nutr 1993; 13: 83-109.
    • (1993) Annu Rev Nutr , vol.13 , pp. 83-109
    • Parker, P.H.1    Ballew, M.2    Greene, H.L.3
  • 29
    • 0025073779 scopus 로고
    • Glucose therapy for glycogenosis type I in infants: Comparison of intermittent uncooked cornstarch and continuous overnight glucose feedings
    • Wolfsdorf JI, Keller RJ, Landy H, Crigler JF. Glucose therapy for glycogenosis type I in infants: Comparison of intermittent uncooked cornstarch and continuous overnight glucose feedings. J Pediatr 1990; 117: 384-391.
    • (1990) J Pediatr , vol.117 , pp. 384-391
    • Wolfsdorf, J.I.1    Keller, R.J.2    Landy, H.3    Crigler, J.F.4
  • 30
    • 0025242215 scopus 로고
    • Physical growth and development of children with type I glycogen storage disease: Comparison of the effects of long-term use of dextrose and uncooked cornstarch
    • Wolfsdorf JI, Rudlin CR, Crigler JF. Physical growth and development of children with type I glycogen storage disease: comparison of the effects of long-term use of dextrose and uncooked cornstarch. Am J Clin Nutr 1990; 52: 1051.
    • (1990) Am J Clin Nutr , vol.52 , pp. 1051
    • Wolfsdorf, J.I.1    Rudlin, C.R.2    Crigler, J.F.3
  • 31
    • 0027298009 scopus 로고
    • Type I glycogen storage disease: Nine years of management with cornstarch
    • Chen YT, Bazzarre CH, Lee MM, Sidbury JB, Coleman RA. Type I glycogen storage disease: Nine years of management with cornstarch. Eur J Pediatr 1993; 152 (Suppl 1): 56-59.
    • (1993) Eur J Pediatr , vol.152 , Issue.1 SUPPL. , pp. 56-59
    • Chen, Y.T.1    Bazzarre, C.H.2    Lee, M.M.3    Sidbury, J.B.4    Coleman, R.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.