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Volumn 3, Issue 3, 2010, Pages 743-768

Biopsy diagnosis of inherited liver disease

Author keywords

Cholestatic; Cirrhotic; Metabolic; Steatotic; Storage pattern

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ALBUMIN; ALPHA 1 ANTITRYPSIN; ALPHA GLUCOSIDASE; AMINOTRANSFERASE; AMMONIA; BETA GALACTOSIDASE; BETA GLUCOSIDASE; BILIRUBIN; CERAMIDASE; COPPER; COPPER EXPORTING ADENOSINE TRIPHOSPHATASE; ELECTROLYTE; FIBROCYSTIN; FUMARYLACETOACETASE; GAMMA GLUTAMYLTRANSFERASE; GLUCOSE; GLUTARALDEHYDE; GLYCOGEN; GLYCOSAMINOGLYCAN; IRON; JAGGED1; KETONE; LACTIC ACID; PHENOBARBITAL; PYRUVIC ACID; SPHINGOMYELIN PHOSPHODIESTERASE; SUCCINYLACETONE; UNINDEXED DRUG; URIC ACID;

EID: 77958117854     PISSN: 18759181     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.path.2010.06.006     Document Type: Review
Times cited : (7)

References (75)
  • 3
    • 58449135270 scopus 로고    scopus 로고
    • Metabolic disorders in childhood
    • Springer-Verlag, Inc, New York, P. Russo, E.D. Ruchelli, D.A. Piccoli (Eds.)
    • Jevon G., Dimmick J. Metabolic disorders in childhood. Pathology of pediatric gastrointestinal and liver disease 2004, 270-299. Springer-Verlag, Inc, New York. 1st edition. P. Russo, E.D. Ruchelli, D.A. Piccoli (Eds.).
    • (2004) Pathology of pediatric gastrointestinal and liver disease , pp. 270-299
    • Jevon, G.1    Dimmick, J.2
  • 4
    • 33747054686 scopus 로고    scopus 로고
    • Hepatocellular and familial cholestasis
    • Springer-Verlag, Inc, New York, P. Russo, E.D. Ruchelli, D.A. Piccoli (Eds.)
    • Knisely A.S. Hepatocellular and familial cholestasis. Pathology of pediatric gastrointestinal and liver disease 2004, 237-250. Springer-Verlag, Inc, New York. 1st edition. P. Russo, E.D. Ruchelli, D.A. Piccoli (Eds.).
    • (2004) Pathology of pediatric gastrointestinal and liver disease , pp. 237-250
    • Knisely, A.S.1
  • 5
    • 77958140089 scopus 로고    scopus 로고
    • Hepatitis and liver failure in infancy and childhood
    • Springer-Verlag, Inc, New York, P. Russo, E.D. Ruchelli, D.A. Piccoli (Eds.)
    • Ruchelli E.D., Rand E.B., Haber B.A. Hepatitis and liver failure in infancy and childhood. Pathology of pediatric gastrointestinal and liver disease 2004, 251-269. Springer-Verlag, Inc, New York. 1st edition. P. Russo, E.D. Ruchelli, D.A. Piccoli (Eds.).
    • (2004) Pathology of pediatric gastrointestinal and liver disease , pp. 251-269
    • Ruchelli, E.D.1    Rand, E.B.2    Haber, B.A.3
  • 6
    • 39149105698 scopus 로고    scopus 로고
    • Diseases of the intrahepatic biliary tree-paucity of intrahepatic bile ducts
    • Springer-Verlag, Inc, New York, P. Russo, E.D. Ruchelli, D.A. Piccoli (Eds.)
    • Russo P., Loomes K.M. Diseases of the intrahepatic biliary tree-paucity of intrahepatic bile ducts. Pathology of pediatric gastrointestinal and liver disease 2004, 220-236. Springer-Verlag, Inc, New York. 1st edition. P. Russo, E.D. Ruchelli, D.A. Piccoli (Eds.).
    • (2004) Pathology of pediatric gastrointestinal and liver disease , pp. 220-236
    • Russo, P.1    Loomes, K.M.2
  • 7
    • 11144278880 scopus 로고    scopus 로고
    • Hepatic tumors in childhood
    • Springer-Verlag, Inc, New York, P. Russo, E.D. Ruchelli, D.A. Piccoli (Eds.)
    • Finegold M.J. Hepatic tumors in childhood. Pathology of pediatric gastrointestinal and liver disease 2004, 300-346. Springer-Verlag, Inc, New York. 1st edition. P. Russo, E.D. Ruchelli, D.A. Piccoli (Eds.).
    • (2004) Pathology of pediatric gastrointestinal and liver disease , pp. 300-346
    • Finegold, M.J.1
  • 8
    • 0029939378 scopus 로고    scopus 로고
    • Clinical presentations and laboratory investigations in respiratory chain deficiency
    • Munnich A., Rotig A., Chretien D., et al. Clinical presentations and laboratory investigations in respiratory chain deficiency. Eur J Pediatr 1996, 155(4):262-274.
    • (1996) Eur J Pediatr , vol.155 , Issue.4 , pp. 262-274
    • Munnich, A.1    Rotig, A.2    Chretien, D.3
  • 9
    • 77958126079 scopus 로고    scopus 로고
    • Inborn errors of mitochondrial fatty acid oxidation
    • Cambridge University Press, Cambridge (NY), F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.)
    • Angdisen J., Dasouki M., Ibdah J.A. Inborn errors of mitochondrial fatty acid oxidation. Liver disease in children 2007, 767-802. Cambridge University Press, Cambridge (NY). 3rd edition. F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.).
    • (2007) Liver disease in children , pp. 767-802
    • Angdisen, J.1    Dasouki, M.2    Ibdah, J.A.3
  • 10
    • 77958135119 scopus 로고    scopus 로고
    • Inborn errors of carbohydrate metabolism
    • Cambridge University Press, Cambridge (NY), F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.)
    • Ghishan F.K., Zawaideh M. Inborn errors of carbohydrate metabolism. Liver disease in children 2007, 595-625. Cambridge University Press, Cambridge (NY). 3rd edition. F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.).
    • (2007) Liver disease in children , pp. 595-625
    • Ghishan, F.K.1    Zawaideh, M.2
  • 11
    • 0033767714 scopus 로고    scopus 로고
    • Progressive familial intrahepatic cholestasis. Genetic basis and treatment
    • Jacquemin E. Progressive familial intrahepatic cholestasis. Genetic basis and treatment. Clin Liver Dis 2000, 4(4):753-763.
    • (2000) Clin Liver Dis , vol.4 , Issue.4 , pp. 753-763
    • Jacquemin, E.1
  • 12
    • 77954148916 scopus 로고    scopus 로고
    • Familial hepatocellular cholestasis
    • Cambridge University Press, Cambridge (NY), F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.)
    • Suchy F.J., Shneider B.L. Familial hepatocellular cholestasis. Liver disease in children 2007, 310-325. Cambridge University Press, Cambridge (NY). 3rd edition. F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.).
    • (2007) Liver disease in children , pp. 310-325
    • Suchy, F.J.1    Shneider, B.L.2
  • 13
    • 73249123260 scopus 로고    scopus 로고
    • Approach to the infant with cholestasis
    • Cambridge University Press, Cambridge (NY), F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.)
    • Suchy F.J. Approach to the infant with cholestasis. Liver disease in children 2007, 179-189. Cambridge University Press, Cambridge (NY). 3rd edition. F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.).
    • (2007) Liver disease in children , pp. 179-189
    • Suchy, F.J.1
  • 14
    • 0031907132 scopus 로고    scopus 로고
    • A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
    • Bull L.N., van Eijk M.J., Pawlikowska L., et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998, 18(3):219-224.
    • (1998) Nat Genet , vol.18 , Issue.3 , pp. 219-224
    • Bull, L.N.1    van Eijk, M.J.2    Pawlikowska, L.3
  • 15
    • 17344366172 scopus 로고    scopus 로고
    • A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
    • Strautnieks S.S., Bull L.N., Knisely A.S., et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 1998, 20(3):233-238.
    • (1998) Nat Genet , vol.20 , Issue.3 , pp. 233-238
    • Strautnieks, S.S.1    Bull, L.N.2    Knisely, A.S.3
  • 16
    • 0040284751 scopus 로고    scopus 로고
    • Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis
    • de Vree J.M., Jacquemin E., Sturm E., et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci U S A 1998, 95(1):282-287.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , Issue.1 , pp. 282-287
    • de Vree, J.M.1    Jacquemin, E.2    Sturm, E.3
  • 17
    • 0035205166 scopus 로고    scopus 로고
    • Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases
    • Jacquemin E. Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases. Semin Liver Dis 2001, 21(4):551-562.
    • (2001) Semin Liver Dis , vol.21 , Issue.4 , pp. 551-562
    • Jacquemin, E.1
  • 18
    • 0033766717 scopus 로고    scopus 로고
    • The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis
    • Schwarz M., Wright A.C., Davis D.L., et al. The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. J Clin Invest 2000, 106(9):1175-1184.
    • (2000) J Clin Invest , vol.106 , Issue.9 , pp. 1175-1184
    • Schwarz, M.1    Wright, A.C.2    Davis, D.L.3
  • 19
    • 0031888585 scopus 로고    scopus 로고
    • A method for the quantitation of conjugated bile acids in dried blood spots using electrospray ionization-mass spectrometry
    • Mills K.A., Mushtaq I., Johnson A.W., et al. A method for the quantitation of conjugated bile acids in dried blood spots using electrospray ionization-mass spectrometry. Pediatr Res 1998, 43(3):361-368.
    • (1998) Pediatr Res , vol.43 , Issue.3 , pp. 361-368
    • Mills, K.A.1    Mushtaq, I.2    Johnson, A.W.3
  • 20
    • 33745740400 scopus 로고    scopus 로고
    • Defects in bile acid biosynthesis-diagnosis and treatment
    • Setchell K.D., Heubi J.E. Defects in bile acid biosynthesis-diagnosis and treatment. J Pediatr Gastroenterol Nutr 2006, 43(Suppl 1):S17-22.
    • (2006) J Pediatr Gastroenterol Nutr , vol.43 , Issue.SUPPL 1
    • Setchell, K.D.1    Heubi, J.E.2
  • 21
    • 0141645554 scopus 로고    scopus 로고
    • Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy
    • Lemonde H.A., Custard E.J., Bouquet J., et al. Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. Gut 2003, 52(10):1494-1499.
    • (2003) Gut , vol.52 , Issue.10 , pp. 1494-1499
    • Lemonde, H.A.1    Custard, E.J.2    Bouquet, J.3
  • 22
    • 0036918537 scopus 로고    scopus 로고
    • A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis
    • Chagnon P., Michaud J., Mitchell G., et al. A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am J Hum Genet 2002, 71(6):1443-1449.
    • (2002) Am J Hum Genet , vol.71 , Issue.6 , pp. 1443-1449
    • Chagnon, P.1    Michaud, J.2    Mitchell, G.3
  • 23
    • 33745232796 scopus 로고    scopus 로고
    • NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
    • McDaniell R., Warthen D.M., Sanchez-Lara P.A., et al. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet 2006, 79(1):169-173.
    • (2006) Am J Hum Genet , vol.79 , Issue.1 , pp. 169-173
    • McDaniell, R.1    Warthen, D.M.2    Sanchez-Lara, P.A.3
  • 24
    • 0038875342 scopus 로고    scopus 로고
    • Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
    • Li L., Krantz I.D., Deng Y., et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 1997, 16(3):243-251.
    • (1997) Nat Genet , vol.16 , Issue.3 , pp. 243-251
    • Li, L.1    Krantz, I.D.2    Deng, Y.3
  • 26
    • 0032729864 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in disorders of peroxisome biogenesis
    • Moser H.W. Genotype-phenotype correlations in disorders of peroxisome biogenesis. Mol Genet Metab 1999, 68(2):316-327.
    • (1999) Mol Genet Metab , vol.68 , Issue.2 , pp. 316-327
    • Moser, H.W.1
  • 27
    • 49249087095 scopus 로고    scopus 로고
    • Peroxisomal diseases
    • Cambridge University Press, Cambridge (NY), F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.)
    • Watkins P.A., Schwarz K.B. Peroxisomal diseases. Liver disease in children 2007, 840-857. Cambridge University Press, Cambridge (NY). 3rd edition. F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.).
    • (2007) Liver disease in children , pp. 840-857
    • Watkins, P.A.1    Schwarz, K.B.2
  • 28
    • 14244267510 scopus 로고    scopus 로고
    • Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders
    • Wanders R.J., Waterham H.R. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet 2005, 67(2):107-133.
    • (2005) Clin Genet , vol.67 , Issue.2 , pp. 107-133
    • Wanders, R.J.1    Waterham, H.R.2
  • 29
    • 0022638148 scopus 로고
    • Hepatobiliary fibropolycystic diseases. A clinical and histological review of 51 patients
    • Summerfield J.A., Nagafuchi Y., Sherlock S., et al. Hepatobiliary fibropolycystic diseases. A clinical and histological review of 51 patients. J Hepatol 1986, 2(2):141-156.
    • (1986) J Hepatol , vol.2 , Issue.2 , pp. 141-156
    • Summerfield, J.A.1    Nagafuchi, Y.2    Sherlock, S.3
  • 30
    • 10744226026 scopus 로고    scopus 로고
    • A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees
    • Rossetti S., Torra R., Coto E., et al. A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. Kidney Int 2003, 64(2):391-403.
    • (2003) Kidney Int , vol.64 , Issue.2 , pp. 391-403
    • Rossetti, S.1    Torra, R.2    Coto, E.3
  • 31
    • 4143073631 scopus 로고    scopus 로고
    • Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11
    • van Mil S.W., van der Woerd W.L., van der Brugge G., et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 2004, 127(2):379-384.
    • (2004) Gastroenterology , vol.127 , Issue.2 , pp. 379-384
    • van Mil, S.W.1    van der Woerd, W.L.2    van der Brugge, G.3
  • 32
    • 11144245023 scopus 로고    scopus 로고
    • Molecular basis of intrahepatic cholestasis
    • Carlton V.E., Pawlikowska L., Bull L.N. Molecular basis of intrahepatic cholestasis. Ann Med 2004, 36(8):606-617.
    • (2004) Ann Med , vol.36 , Issue.8 , pp. 606-617
    • Carlton, V.E.1    Pawlikowska, L.2    Bull, L.N.3
  • 33
    • 19044365959 scopus 로고    scopus 로고
    • GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
    • Visapaa I., Fellman V., Vesa J., et al. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet 2002, 71(4):863-876.
    • (2002) Am J Hum Genet , vol.71 , Issue.4 , pp. 863-876
    • Visapaa, I.1    Fellman, V.2    Vesa, J.3
  • 34
    • 77958137690 scopus 로고    scopus 로고
    • The liver in lysosomal storage diseases
    • Cambridge University Press, Cambridge (NY), F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.)
    • Burrow T.A., Bove K.E., Grabowski G.A. The liver in lysosomal storage diseases. Liver disease in children 2007, 714-735. Cambridge University Press, Cambridge (NY). 3rd edition. F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.).
    • (2007) Liver disease in children , pp. 714-735
    • Burrow, T.A.1    Bove, K.E.2    Grabowski, G.A.3
  • 35
    • 0003472418 scopus 로고
    • Familial cirrhosis of the liver with storage of abnormal glycogen
    • Andersen D.H. Familial cirrhosis of the liver with storage of abnormal glycogen. Lab Invest 1956, 5(1):11-20.
    • (1956) Lab Invest , vol.5 , Issue.1 , pp. 11-20
    • Andersen, D.H.1
  • 36
    • 0021336751 scopus 로고
    • Phenotypic variability in siblings with Farber disease
    • Antonarakis S.E., Valle D., Moser H.W., et al. Phenotypic variability in siblings with Farber disease. J Pediatr 1984, 104(3):406-409.
    • (1984) J Pediatr , vol.104 , Issue.3 , pp. 406-409
    • Antonarakis, S.E.1    Valle, D.2    Moser, H.W.3
  • 37
    • 0033791922 scopus 로고    scopus 로고
    • Intrauterine fetal death due to Farber disease: case report
    • van Lijnschoten G., Groener J.E., Maas S.M., et al. Intrauterine fetal death due to Farber disease: case report. Pediatr Dev Pathol 2000, 3(6):597-602.
    • (2000) Pediatr Dev Pathol , vol.3 , Issue.6 , pp. 597-602
    • van Lijnschoten, G.1    Groener, J.E.2    Maas, S.M.3
  • 38
    • 0017819801 scopus 로고
    • Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation
    • Sogawa H., Horino K., Nakamura F., et al. Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation. Eur J Pediatr 1978, 128(4):235-240.
    • (1978) Eur J Pediatr , vol.128 , Issue.4 , pp. 235-240
    • Sogawa, H.1    Horino, K.2    Nakamura, F.3
  • 39
    • 33749250737 scopus 로고    scopus 로고
    • Glycogen storage disease: clinical, biochemical, and molecular heterogeneity
    • Shin Y.S. Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. Semin Pediatr Neurol 2006, 13(2):115-120.
    • (2006) Semin Pediatr Neurol , vol.13 , Issue.2 , pp. 115-120
    • Shin, Y.S.1
  • 40
    • 0030917702 scopus 로고    scopus 로고
    • Impaired mitochondrial function in microvesicular steatosis. Effects of drugs, ethanol, hormones and cytokines
    • Fromenty B., Pessayre D. Impaired mitochondrial function in microvesicular steatosis. Effects of drugs, ethanol, hormones and cytokines. J Hepatol 1997, 26(Suppl 2):43-53.
    • (1997) J Hepatol , vol.26 , Issue.SUPPL 2 , pp. 43-53
    • Fromenty, B.1    Pessayre, D.2
  • 41
    • 77958145877 scopus 로고    scopus 로고
    • Mitochondrial hepatopathies
    • Cambridge University Press, Cambridge (NY), F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.)
    • Sokol R.J. Mitochondrial hepatopathies. Liver disease in children 2007, 803-829. Cambridge University Press, Cambridge (NY). 3rd edition. F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.).
    • (2007) Liver disease in children , pp. 803-829
    • Sokol, R.J.1
  • 42
    • 0028597508 scopus 로고
    • Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein
    • IJlst L., Wanders R.J., Ushikubo S., et al. Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. Biochim Biophys Acta 1994, 1215(3):347-350.
    • (1994) Biochim Biophys Acta , vol.1215 , Issue.3 , pp. 347-350
    • IJlst, L.1    Wanders, R.J.2    Ushikubo, S.3
  • 43
    • 0025010623 scopus 로고
    • Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation
    • Yokota I., Indo Y., Coates P.M., et al. Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation. J Clin Invest 1990, 86(3):1000-1003.
    • (1990) J Clin Invest , vol.86 , Issue.3 , pp. 1000-1003
    • Yokota, I.1    Indo, Y.2    Coates, P.M.3
  • 44
    • 0025060128 scopus 로고
    • Molecular analysis of aldolase B genes in hereditary fructose intolerance
    • Cross N.C., de Franchis R., Sebastio G., et al. Molecular analysis of aldolase B genes in hereditary fructose intolerance. Lancet 1990, 335(8685):306-309.
    • (1990) Lancet , vol.335 , Issue.8685 , pp. 306-309
    • Cross, N.C.1    de Franchis, R.2    Sebastio, G.3
  • 45
    • 0018224579 scopus 로고
    • Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients
    • Odievre M., Gentil C., Gautier M., et al. Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients. Am J Dis Child 1978, 132(6):605-608.
    • (1978) Am J Dis Child , vol.132 , Issue.6 , pp. 605-608
    • Odievre, M.1    Gentil, C.2    Gautier, M.3
  • 46
    • 77958148538 scopus 로고    scopus 로고
    • Laboratory diagnosis of inborn errors of metabolism
    • Cambridge University Press, Cambridge (NY), F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.)
    • Oglesbee D., Rinaldo P. Laboratory diagnosis of inborn errors of metabolism. Liver disease in children 2007, 531-544. Cambridge University Press, Cambridge (NY). 3rd edition. F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.).
    • (2007) Liver disease in children , pp. 531-544
    • Oglesbee, D.1    Rinaldo, P.2
  • 47
    • 0027452091 scopus 로고
    • The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
    • Bull P.C., Thomas G.R., Rommens J.M., et al. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993, 5(4):327-337.
    • (1993) Nat Genet , vol.5 , Issue.4 , pp. 327-337
    • Bull, P.C.1    Thomas, G.R.2    Rommens, J.M.3
  • 48
    • 84959815379 scopus 로고
    • Wilson's disease
    • Marsden C.D. Wilson's disease. Q J Med 1987, 65(248):959-966.
    • (1987) Q J Med , vol.65 , Issue.248 , pp. 959-966
    • Marsden, C.D.1
  • 49
    • 0031789327 scopus 로고    scopus 로고
    • Evaluation of mebrofenin hepatoscintigraphy in neonatal-onset jaundice
    • Johnson K., Alton H.M., Chapman S. Evaluation of mebrofenin hepatoscintigraphy in neonatal-onset jaundice. Pediatr Radiol 1998, 28(12):937-941.
    • (1998) Pediatr Radiol , vol.28 , Issue.12 , pp. 937-941
    • Johnson, K.1    Alton, H.M.2    Chapman, S.3
  • 50
    • 77958147202 scopus 로고    scopus 로고
    • Copper metabolism and copper storage disorders
    • Cambridge University Press, Cambridge (NY), F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.)
    • O'Connor J.A., Sokol R.J. Copper metabolism and copper storage disorders. Liver disease in children 2007, 626-660. Cambridge University Press, Cambridge (NY). 3rd edition. F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.).
    • (2007) Liver disease in children , pp. 626-660
    • O'Connor, J.A.1    Sokol, R.J.2
  • 51
    • 0000919166 scopus 로고
    • On the enzymic defects in hereditary tyrosinemia
    • Lindblad B., Lindstedt S., Steen G. On the enzymic defects in hereditary tyrosinemia. Proc Natl Acad Sci U S A 1977, 74(10):4641-4645.
    • (1977) Proc Natl Acad Sci U S A , vol.74 , Issue.10 , pp. 4641-4645
    • Lindblad, B.1    Lindstedt, S.2    Steen, G.3
  • 52
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • Feder J.N., Gnirke A., Thomas W., et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996, 13(4):399-408.
    • (1996) Nat Genet , vol.13 , Issue.4 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 53
    • 77958146839 scopus 로고    scopus 로고
    • Fibrocystic liver disease
    • Cambridge University Press, Cambridge (NY), F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.)
    • Jonas M.M., Perez-Atayde A.R. Fibrocystic liver disease. Liver disease in children 2007, 928-942. Cambridge University Press, Cambridge (NY). 3rd edition. F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.).
    • (2007) Liver disease in children , pp. 928-942
    • Jonas, M.M.1    Perez-Atayde, A.R.2
  • 54
    • 0035880453 scopus 로고    scopus 로고
    • Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability
    • Jorquera R., Tanguay R.M. Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. Hum Mol Genet 2001, 10(17):1741-1752.
    • (2001) Hum Mol Genet , vol.10 , Issue.17 , pp. 1741-1752
    • Jorquera, R.1    Tanguay, R.M.2
  • 55
    • 77958143678 scopus 로고    scopus 로고
    • Tyrosinemia
    • Cambridge University Press, Cambridge (NY), F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.)
    • Mitchell G., Russo P.A., Dubois J., et al. Tyrosinemia. Liver disease in children 2007, 694-713. Cambridge University Press, Cambridge (NY). 3rd edition. F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.).
    • (2007) Liver disease in children , pp. 694-713
    • Mitchell, G.1    Russo, P.A.2    Dubois, J.3
  • 56
    • 0031030733 scopus 로고    scopus 로고
    • The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis
    • Adams P.C., Deugnier Y., Moirand R., et al. The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis. Hepatology 1997, 25(1):162-166.
    • (1997) Hepatology , vol.25 , Issue.1 , pp. 162-166
    • Adams, P.C.1    Deugnier, Y.2    Moirand, R.3
  • 57
    • 0031823535 scopus 로고    scopus 로고
    • Hemochromatosis: advances in molecular genetics and clinical diagnosis
    • Ramrakhiani S., Bacon B.R. Hemochromatosis: advances in molecular genetics and clinical diagnosis. J Clin Gastroenterol 1998, 27(1):41-46.
    • (1998) J Clin Gastroenterol , vol.27 , Issue.1 , pp. 41-46
    • Ramrakhiani, S.1    Bacon, B.R.2
  • 58
    • 77952712834 scopus 로고    scopus 로고
    • Iron storage disorders
    • Cambridge University Press, Cambridge (NY), F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.)
    • Knisely A.S., Narkewicz M.R. Iron storage disorders. Liver disease in children 2007, 661-676. Cambridge University Press, Cambridge (NY). 3rd edition. F.J. Suchy, R.J. Sokol, W.F. Balistreri (Eds.).
    • (2007) Liver disease in children , pp. 661-676
    • Knisely, A.S.1    Narkewicz, M.R.2
  • 59
    • 7044222320 scopus 로고    scopus 로고
    • Iron, hemochromatosis, and hepatocellular carcinoma
    • Kowdley K.V. Iron, hemochromatosis, and hepatocellular carcinoma. Gastroenterology 2004, 127(5 Suppl 1):S79-86.
    • (2004) Gastroenterology , vol.127 , Issue.5 SUPPL 1
    • Kowdley, K.V.1
  • 60
    • 21144443890 scopus 로고    scopus 로고
    • Hepatocellular carcinoma in glycogen storage disease type Ia: a case series
    • Franco L.M., Krishnamurthy V., Bali D., et al. Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. J Inherit Metab Dis 2005, 28(2):153-162.
    • (2005) J Inherit Metab Dis , vol.28 , Issue.2 , pp. 153-162
    • Franco, L.M.1    Krishnamurthy, V.2    Bali, D.3
  • 61
    • 0017316843 scopus 로고
    • Hepatic adenomata with type 1 glycogen storage disease
    • Howell R.R., Stevenson R.E., Ben-Menachem Y., et al. Hepatic adenomata with type 1 glycogen storage disease. JAMA 1976, 236(13):1481-1484.
    • (1976) JAMA , vol.236 , Issue.13 , pp. 1481-1484
    • Howell, R.R.1    Stevenson, R.E.2    Ben-Menachem, Y.3
  • 62
    • 0035698173 scopus 로고    scopus 로고
    • Glucose-6-phosphatase gene mutations in 20 adult Japanese patients with glycogen storage disease type 1a with reference to hepatic tumors
    • Nakamura T., Ozawa T., Kawasaki T., et al. Glucose-6-phosphatase gene mutations in 20 adult Japanese patients with glycogen storage disease type 1a with reference to hepatic tumors. J Gastroenterol Hepatol 2001, 16(12):1402-1408.
    • (2001) J Gastroenterol Hepatol , vol.16 , Issue.12 , pp. 1402-1408
    • Nakamura, T.1    Ozawa, T.2    Kawasaki, T.3
  • 63
    • 0024846784 scopus 로고
    • Tyrosinaemia type I: orthotopic liver transplantation as the only definitive answer to a metabolic as well as an oncological problem
    • van Spronsen F.J., Berger R., Smit G.P., et al. Tyrosinaemia type I: orthotopic liver transplantation as the only definitive answer to a metabolic as well as an oncological problem. J Inherit Metab Dis 1989, 12(Suppl 2):339-342.
    • (1989) J Inherit Metab Dis , vol.12 , Issue.SUPPL 2 , pp. 339-342
    • van Spronsen, F.J.1    Berger, R.2    Smit, G.P.3
  • 64
    • 43049172048 scopus 로고    scopus 로고
    • Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1
    • Santra S., Baumann U. Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1. Expert Opin Pharmacother 2008, 9(7):1229-1236.
    • (2008) Expert Opin Pharmacother , vol.9 , Issue.7 , pp. 1229-1236
    • Santra, S.1    Baumann, U.2
  • 65
    • 0022637178 scopus 로고
    • Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency
    • Eriksson S., Carlson J., Velez R. Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency. N Engl J Med 1986, 314(12):736-739.
    • (1986) N Engl J Med , vol.314 , Issue.12 , pp. 736-739
    • Eriksson, S.1    Carlson, J.2    Velez, R.3
  • 66
    • 0031842199 scopus 로고    scopus 로고
    • Liver carcinoma in PiZ alpha-1-antitrypsin deficiency
    • Zhou H., Fischer H.P. Liver carcinoma in PiZ alpha-1-antitrypsin deficiency. Am J Surg Pathol 1998, 22(6):742-748.
    • (1998) Am J Surg Pathol , vol.22 , Issue.6 , pp. 742-748
    • Zhou, H.1    Fischer, H.P.2
  • 67
    • 0037439356 scopus 로고    scopus 로고
    • Cancer in Fanconi anemia, 1927-2001
    • Alter B.P. Cancer in Fanconi anemia, 1927-2001. Cancer 2003, 97(2):425-440.
    • (2003) Cancer , vol.97 , Issue.2 , pp. 425-440
    • Alter, B.P.1
  • 68
    • 23944520114 scopus 로고    scopus 로고
    • Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives
    • Cohen M.M. Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. Pediatr Dev Pathol 2005, 8(3):287-304.
    • (2005) Pediatr Dev Pathol , vol.8 , Issue.3 , pp. 287-304
    • Cohen, M.M.1
  • 69
    • 0026629703 scopus 로고
    • Risk of hepatoblastoma in familial adenomatous polyposis
    • Hughes L.J., Michels V.V. Risk of hepatoblastoma in familial adenomatous polyposis. Am J Med Genet 1992, 43(6):1023-1025.
    • (1992) Am J Med Genet , vol.43 , Issue.6 , pp. 1023-1025
    • Hughes, L.J.1    Michels, V.V.2
  • 70
    • 0026001932 scopus 로고
    • Risk of hepatoblastoma in familial adenomatous polyposis
    • Giardiello F.M., Offerhaus G.J., Krush A.J., et al. Risk of hepatoblastoma in familial adenomatous polyposis. J Pediatr 1991, 119(5):766-768.
    • (1991) J Pediatr , vol.119 , Issue.5 , pp. 766-768
    • Giardiello, F.M.1    Offerhaus, G.J.2    Krush, A.J.3
  • 71
    • 0016679579 scopus 로고
    • Cholangiocarcinoma arising in congenital hepatic fibrosis. A case report
    • Daroca P.J., Tuthill R., Reed R.J. Cholangiocarcinoma arising in congenital hepatic fibrosis. A case report. Arch Pathol 1975, 99(11):592-595.
    • (1975) Arch Pathol , vol.99 , Issue.11 , pp. 592-595
    • Daroca, P.J.1    Tuthill, R.2    Reed, R.J.3
  • 72
    • 34247177532 scopus 로고    scopus 로고
    • Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma
    • Scheimann A.O., Strautnieks S.S., Knisely A.S., et al. Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma. J Pediatr 2007, 150(5):556-559.
    • (2007) J Pediatr , vol.150 , Issue.5 , pp. 556-559
    • Scheimann, A.O.1    Strautnieks, S.S.2    Knisely, A.S.3
  • 73
    • 0033585476 scopus 로고    scopus 로고
    • Prevalence of lysosomal storage disorders
    • Meikle P.J., Hopwood J.J., Clague A.E., et al. Prevalence of lysosomal storage disorders. JAMA 1999, 281(3):249-254.
    • (1999) JAMA , vol.281 , Issue.3 , pp. 249-254
    • Meikle, P.J.1    Hopwood, J.J.2    Clague, A.E.3
  • 74
    • 0025180243 scopus 로고
    • Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean
    • De Braekeleer M., Larochelle J. Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean. Am J Hum Genet 1990, 47(2):302-307.
    • (1990) Am J Hum Genet , vol.47 , Issue.2 , pp. 302-307
    • De Braekeleer, M.1    Larochelle, J.2
  • 75
    • 33750493316 scopus 로고    scopus 로고
    • Newborn screening: complexities in universal genetic testing
    • Green N.S., Dolan S.M., Murray T.H. Newborn screening: complexities in universal genetic testing. Am J Public Health 2006, 96(11):1955-1959.
    • (2006) Am J Public Health , vol.96 , Issue.11 , pp. 1955-1959
    • Green, N.S.1    Dolan, S.M.2    Murray, T.H.3


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