메뉴 건너뛰기




Volumn 437, Issue 1, 2000, Pages 101-105

Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency

Author keywords

CDG syndrome; Congenital hepatic fibrosis; Phosphomannose isomerase deficiency

Indexed keywords

ALBUMIN; ALPHA 1 ANTITRYPSIN; ANTITHROMBIN III; BLOOD CLOTTING FACTOR; MANNOSE; MANNOSE PHOSPHATE ISOMERASE; PROTEIN C; PROTEIN S; TRANSFERASE;

EID: 0033917838     PISSN: 09456317     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004280000185     Document Type: Article
Times cited : (33)

References (26)
  • 2
    • 0017762255 scopus 로고
    • Congenital hepatic fibrosis: Asymptomatic adults without renal anomaly
    • 2. Averback P (1977) Congenital hepatic fibrosis: asymptomatic adults without renal anomaly. Arch Pathol Lab Med 101:260-261
    • (1977) Arch Pathol Lab Med , vol.101 , pp. 260-261
    • Averback, P.1
  • 3
    • 0026061287 scopus 로고
    • Normal and abnormal development of intrahepatic bile ducts: An immunohistochemical perspective
    • 3. Blankenberg TA, Lund JK, Reubner BH (1991) Normal and abnormal development of intrahepatic bile ducts: an immunohistochemical perspective. Perspect Pediatr Pathol 14:143-167
    • (1991) Perspect Pediatr Pathol , vol.14 , pp. 143-167
    • Blankenberg, T.A.1    Lund, J.K.2    Reubner, B.H.3
  • 4
    • 0023256348 scopus 로고
    • Expression of tissue polypeptide antigen (TPA) in fetal and adult liver: Changes in liver disease
    • 4. Burt AD, Stewart JA, Aitchison M, MacSween RN (1987) Expression of tissue polypeptide antigen (TPA) in fetal and adult liver: changes in liver disease. J Clin Pathol 40:719-724
    • (1987) J Clin Pathol , vol.40 , pp. 719-724
    • Burt, A.D.1    Stewart, J.A.2    Aitchison, M.3    Macsween, R.N.4
  • 5
    • 0026662974 scopus 로고
    • Characterization and dynamics of O-linked glycosylation of human cytokeratin 8 and 18
    • 5. Chou CF, Smith AJ, Omary MB (1992) Characterization and dynamics of O-linked glycosylation of human cytokeratin 8 and 18. J Biol Chem 267:3901-3906
    • (1992) J Biol Chem , vol.267 , pp. 3901-3906
    • Chou, C.F.1    Smith, A.J.2    Omary, M.B.3
  • 7
    • 0026636283 scopus 로고
    • What is congenital hepatic fibrosis?
    • 7. Desmet VJ (1992) What is congenital hepatic fibrosis? Histopathology 20:465-477
    • (1992) Histopathology , vol.20 , pp. 465-477
    • Desmet, V.J.1
  • 8
    • 0026737604 scopus 로고
    • Congenital disease of intrahepatic bile ducts: Variations on the theme "ductal plate malformation"
    • 8. Desmet VJ (1992) Congenital disease of intrahepatic bile ducts: variations on the theme "ductal plate malformation". Hepatology 16:1069-1083
    • (1992) Hepatology , vol.16 , pp. 1069-1083
    • Desmet, V.J.1
  • 9
    • 0031609085 scopus 로고    scopus 로고
    • Pathogenesis of ductal plate abnormalities
    • 9. Desmet VJ (1998) Pathogenesis of ductal plate abnormalities. Mayo Clin Proc 73:80-89
    • (1998) Mayo Clin Proc , vol.73 , pp. 80-89
    • Desmet, V.J.1
  • 10
    • 0025514364 scopus 로고
    • Cytokeratins for probing cell lineage relationships in developing liver
    • 10. Desmet VJ, Van Eyken P, Sciot R (1990) Cytokeratins for probing cell lineage relationships in developing liver. Hepatology 12:1249-251
    • (1990) Hepatology , vol.12 , pp. 1249-1251
    • Desmet, V.J.1    Van Eyken, P.2    Sciot, R.3
  • 12
    • 0000249979 scopus 로고
    • Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency, increased serum arylsulfatase A and increased CSF protein: A new syndrome?
    • 12. Jaeken J, Vanderscheuren-Lodeweyckx M, Casaer P, Snoeck L, Corbeel L (1980) Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency, increased serum arylsulfatase A and increased CSF protein: a new syndrome? Pediatr Res 14:149
    • (1980) Pediatr Res , vol.14 , pp. 149
    • Jaeken, J.1    Vanderscheuren-Lodeweyckx, M.2    Casaer, P.3    Snoeck, L.4    Corbeel, L.5
  • 13
    • 0027930443 scopus 로고
    • Carbohydrate deficient glycoprotein syndrome type II: A deficiency in Golgi localized N-acetyl-glucosaminyltransferase II
    • 13. Jaeken J, Schachter H, Carchon H, De Cock P, Coddeville B, Spik G (1994) Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localized N-acetyl-glucosaminyltransferase II. Arch Dis Child 71:123-127
    • (1994) Arch Dis Child , vol.71 , pp. 123-127
    • Jaeken, J.1    Schachter, H.2    Carchon, H.3    De Cock, P.4    Coddeville, B.5    Spik, G.6
  • 17
    • 0032573176 scopus 로고    scopus 로고
    • Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc:Man9Glc-NAc2-PP-dolichyl glucosyltransferase
    • 17. Korner C, Knauer R, Holzbach U, Hanefeld F, Lehle L, Figura K von (1998) Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9Glc-NAc2-PP-dolichyl glucosyltransferase. Proc Natl Acad Sci 27 95:13200-13205
    • (1998) Proc Natl Acad Sci 27 , vol.95 , pp. 13200-13205
    • Korner, C.1    Knauer, R.2    Holzbach, U.3    Hanefeld, F.4    Lehle, L.5    Von Figura, K.6
  • 18
    • 0002522239 scopus 로고    scopus 로고
    • Hyperinsulinemic hypoglycemia as presenting symptom in phosphomannose isomerase deficiency; a new presentation of carbohydrate-deficient glycoprotein syndrome treatable by mannose
    • 18. Lonlay P de, Cuer M, Barrot S, Castelnau P, Touati G, Durand G, Saudubray JM, Seta N (1998) Hyperinsulinemic hypoglycemia as presenting symptom in phosphomannose isomerase deficiency; a new presentation of carbohydrate-deficient glycoprotein syndrome treatable by mannose. J Inher Metab Dis [Suppl 2] 21:96
    • (1998) J Inher Metab Dis , vol.21 , Issue.SUPPL. 2 , pp. 96
    • De Lonlay, P.1    Cuer, M.2    Barrot, S.3    Castelnau, P.4    Touati, G.5    Durand, G.6    Saudubray, J.M.7    Seta, N.8
  • 20
    • 0025744126 scopus 로고
    • Sural nerve pathology in the carbohydrate-deficient glycoprotein syndrome
    • 20. Nordborg C, Hagberg B, Kristiansson B (1991) Sural nerve pathology in the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand [Suppl] 375:39-49
    • (1991) Acta Paediatr Scand , vol.375 , Issue.SUPPL. , pp. 39-49
    • Nordborg, C.1    Hagberg, B.2    Kristiansson, B.3
  • 21
    • 0019040876 scopus 로고
    • Congenital hepatic fibrosis combined with protein-losing enteropathy and recurrent thrombosis
    • 21. Pedersen PS, Tygstrup I (1980) Congenital hepatic fibrosis combined with protein-losing enteropathy and recurrent thrombosis. Acta Paediatr Scand 69:571-574
    • (1980) Acta Paediatr Scand , vol.69 , pp. 571-574
    • Pedersen, P.S.1    Tygstrup, I.2
  • 22
    • 0029026356 scopus 로고
    • Long-term studies on congenital hepatic fibrosis in children
    • 22. Perisic VN (1995) Long-term studies on congenital hepatic fibrosis in children. Acta Paediatr 84:695-696
    • (1995) Acta Paediatr , vol.84 , pp. 695-696
    • Perisic, V.N.1
  • 23
    • 0027177255 scopus 로고
    • Carbohydrate-deficient glycoprotein (CDG) syndrome-a new variant, type III
    • 23. Stibler H, Westerberg B, Hanefeld F, Hagberg B (1993) Carbohydrate-deficient glycoprotein (CDG) syndrome-a new variant, type III. Neuropediatrics 24:51-52
    • (1993) Neuropediatrics , vol.24 , pp. 51-52
    • Stibler, H.1    Westerberg, B.2    Hanefeld, F.3    Hagberg, B.4
  • 24
    • 0028851977 scopus 로고
    • Carbohydrate-deficient glycoprotein syndrome-a fourth subtype
    • 24. Stibler H, Stephani U, Kutsch U (1995) Carbohydrate-deficient glycoprotein syndrome-a fourth subtype. Neuropediatrics 26: 235-237
    • (1995) Neuropediatrics , vol.26 , pp. 235-237
    • Stibler, H.1    Stephani, U.2    Kutsch, U.3
  • 25
    • 0028108369 scopus 로고
    • Profiles of expression of carbohydrate structures during intrahepatic bile duct development and maturation
    • 25. Terada T, Nakanuma Y (1994) Profiles of expression of carbohydrate structures during intrahepatic bile duct development and maturation. Hepatology 20:388-397
    • (1994) Hepatology , vol.20 , pp. 388-397
    • Terada, T.1    Nakanuma, Y.2
  • 26
    • 0028816320 scopus 로고
    • Detection of apoptosis and expression of apoptosis related proteins during human intrahepatic bile duct development
    • 26. Terada T, Nakanuma Y (1995) Detection of apoptosis and expression of apoptosis related proteins during human intrahepatic bile duct development. Am J Pathol 146:67-74
    • (1995) Am J Pathol , vol.146 , pp. 67-74
    • Terada, T.1    Nakanuma, Y.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.