-
1
-
-
0014442684
-
Byler disease: Fatal familial intrahepatic cholestasis in an Amish kindred
-
Clayton RJ, Iber FL, Ruebner BH, McKusick VA. Byler disease: fatal familial intrahepatic cholestasis in an Amish kindred. Am J Dis Child 1969;117:112-124.
-
(1969)
Am J Dis Child
, vol.117
, pp. 112-124
-
-
Clayton, R.J.1
Iber, F.L.2
Ruebner, B.H.3
McKusick, V.A.4
-
2
-
-
0001771810
-
Familial intrahepatic cholestasis syndromes
-
Suchy FJ, ed. St. Louis: Mosby
-
Riely CA. Familial intrahepatic cholestasis syndromes. In: Suchy FJ, ed. Liver Disease in Children. St. Louis: Mosby, 1994:443-459.
-
(1994)
Liver Disease in Children
, pp. 443-459
-
-
Riely, C.A.1
-
3
-
-
0022259173
-
Bile acid profiles in siblings with progressive intrahepatic cholestasis: Absence of biliary chenodeoxycholate
-
Tazawa Y, Yamada M, Nakagawa M, Konno T, Tada K. Bile acid profiles in siblings with progressive intrahepatic cholestasis: absence of biliary chenodeoxycholate. J Pediatr Gastroenterol Nutr 1985;4:32-37.
-
(1985)
J Pediatr Gastroenterol Nutr
, vol.4
, pp. 32-37
-
-
Tazawa, Y.1
Yamada, M.2
Nakagawa, M.3
Konno, T.4
Tada, K.5
-
4
-
-
0028303784
-
Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis
-
Jacquemin E, Dumont M, Bernard O, Erlinger S, Hadchouel M. Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis. Eur J Pediatr 1994;153:424-428.
-
(1994)
Eur J Pediatr
, vol.153
, pp. 424-428
-
-
Jacquemin, E.1
Dumont, M.2
Bernard, O.3
Erlinger, S.4
Hadchouel, M.5
-
5
-
-
0027957852
-
Histologic pathology of the liver in progressive familial intrahepatic cholestasis
-
Alonso EM, Snover DC, Montag A, Freese DK, Whitington PF. Histologic pathology of the liver in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994;18:128-133.
-
(1994)
J Pediatr Gastroenterol Nutr
, vol.18
, pp. 128-133
-
-
Alonso, E.M.1
Snover, D.C.2
Montag, A.3
Freese, D.K.4
Whitington, P.F.5
-
6
-
-
0028107618
-
Clinical and biochemical findings in progressive familial intrahepatic cholestasis
-
Whitington PF, Freese DK, Alonso EM, Schwarzenberg SJ, Sharp HL. Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994;18:134-141.
-
(1994)
J Pediatr Gastroenterol Nutr
, vol.18
, pp. 134-141
-
-
Whitington, P.F.1
Freese, D.K.2
Alonso, E.M.3
Schwarzenberg, S.J.4
Sharp, H.L.5
-
7
-
-
3643143960
-
Progressive intrahepatic cholestasis with normal γ-glutamyltransferase is highly associated with the 3β-hydroxysteroid dehydrogenase/isomerase deficiency, an inborn error in bile acid synthesis - A new category of metabolic liver disease
-
Setchell KDR, Piccoli DA, O'Connell NC, Jacquemin E, Bernard O. Progressive intrahepatic cholestasis with normal γ-glutamyltransferase is highly associated with the 3β-hydroxysteroid dehydrogenase/isomerase deficiency, an inborn error in bile acid synthesis - a new category of metabolic liver disease [Abstract]. HEPATOLOGY 1993;18:178A.
-
(1993)
Hepatology
, vol.18
-
-
Setchell, K.D.R.1
Piccoli, D.A.2
O'Connell, N.C.3
Jacquemin, E.4
Bernard, O.5
-
8
-
-
0027964355
-
A new cause of progressive intrahepatic cholestasis: 3β-hydroxysteroid dehydrogenase/isomerase deficiency
-
Jacquemin E, Setchell KD, O'Connell NC, Estrada A, Maggiore G, Schmitz J, Hadchouel M, et al. A new cause of progressive intrahepatic cholestasis: 3β-hydroxysteroid dehydrogenase/isomerase deficiency. J Pediatr 1994;125:379-384.
-
(1994)
J Pediatr
, vol.125
, pp. 379-384
-
-
Jacquemin, E.1
Setchell, K.D.2
O'Connell, N.C.3
Estrada, A.4
Maggiore, G.5
Schmitz, J.6
Hadchouel, M.7
-
9
-
-
0000078354
-
Disorders of bile acid synthesis and metabolism
-
Walker A, Durie PR, Hamilton JR, Walker-Smith JA, Watkins JB, eds. St. Louis: Mosby
-
Setchell KDR. Disorders of bile acid synthesis and metabolism. In: Walker A, Durie PR, Hamilton JR, Walker-Smith JA, Watkins JB, eds. Pediatric Gastrointestinal Disease: Pathophysiology, Diagnosis, Management, ed. 2. St. Louis: Mosby, 1996:1205-1233.
-
(1996)
Pediatric Gastrointestinal Disease: Pathophysiology, Diagnosis, Management, Ed. 2
, pp. 1205-1233
-
-
Setchell, K.D.R.1
-
10
-
-
0029038668
-
Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region
-
Carlton VEH, Knisely AS, Freimer NB. Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. Hum Mol Genet 1995; 4:1049-1053.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1049-1053
-
-
Carlton, V.E.H.1
Knisely, A.S.2
Freimer, N.B.3
-
11
-
-
12644313827
-
Byler disease: Evidence for genetic heterogeneity by exclusion of linkage to the 18q21-q22 region in eight Swedish families
-
Annerén G, Nemeth A, Arnell H, Dahl N. Byler disease: evidence for genetic heterogeneity by exclusion of linkage to the 18q21-q22 region in eight Swedish families [Abstract]. Eur J Hum Genet 1996;4(suppl 1):99.
-
(1996)
Eur J Hum Genet
, vol.4
, Issue.1 SUPPL.
, pp. 99
-
-
Annerén, G.1
Nemeth, A.2
Arnell, H.3
Dahl, N.4
-
12
-
-
0029989941
-
Locus heterogeneity in progressive familial intrahepatic cholestasis
-
Strautnieks SS, Kagalwalla AM, Tanner MA, Gardiner RM, Thompson RJ. Locus heterogeneity in progressive familial intrahepatic cholestasis. J Med Genet 1996;33:833-836.
-
(1996)
J Med Genet
, vol.33
, pp. 833-836
-
-
Strautnieks, S.S.1
Kagalwalla, A.M.2
Tanner, M.A.3
Gardiner, R.M.4
Thompson, R.J.5
-
13
-
-
0020691171
-
Serum bile acid analysis: The application of liquid-gel chromatographic techniques and capillary column gas chromatography and mass spectrometry
-
Setchell KDR, Matsui A. Serum bile acid analysis: the application of liquid-gel chromatographic techniques and capillary column gas chromatography and mass spectrometry. Clin Chim Acta 1983;127:1-17.
-
(1983)
Clin Chim Acta
, vol.127
, pp. 1-17
-
-
Setchell, K.D.R.1
Matsui, A.2
-
14
-
-
0028231090
-
The 1993-94 Genethon human linkage map
-
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, et al. The 1993-94 Genethon human linkage map. Nat Genet 1994; 5:246-339.
-
(1994)
Nat Genet
, vol.5
, pp. 246-339
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
Dib, C.4
Fizames, C.5
Millasseau, P.6
Marc, S.7
-
15
-
-
0027461758
-
A microsatellite genetic linkage map of human chromosome 18
-
Straub RE, Speer MC, Luo Y, Rojas K, Overhauser J, Ott J, Gilliam TC. A microsatellite genetic linkage map of human chromosome 18. Genomics 1993;15:48-56.
-
(1993)
Genomics
, vol.15
, pp. 48-56
-
-
Straub, R.E.1
Speer, M.C.2
Luo, Y.3
Rojas, K.4
Overhauser, J.5
Ott, J.6
Gilliam, T.C.7
-
16
-
-
0028325745
-
Mutational processes of simple-sequence repeat loci in human populations
-
Di Rienzo A, Peterson AC, Garza JC, Valdes AM, Slatkin M, Freimer NB. Mutational processes of simple-sequence repeat loci in human populations. Proc Natl Acad Sci U S A 1994;91:3166-3170.
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, pp. 3166-3170
-
-
Di Rienzo, A.1
Peterson, A.C.2
Garza, J.C.3
Valdes, A.M.4
Slatkin, M.5
Freimer, N.B.6
-
18
-
-
0003558057
-
-
New York, Raven
-
Phillips MJ, Poucell S, Patterson J, Valencia P. The Liver: An Atlas and Text of Ultrastructural Pathology. New York, Raven, 1987.
-
(1987)
The Liver: An Atlas and Text of Ultrastructural Pathology
-
-
Phillips, M.J.1
Poucell, S.2
Patterson, J.3
Valencia, P.4
-
22
-
-
0028824241
-
Progressive familial intrahepatic cholestasis (Byler's disease) in Arab children
-
Kagalwalla AF, Al Amir AR, Khalifa A, Sylven M, Al Ajaji A, Kagalwalla YA. Progressive familial intrahepatic cholestasis (Byler's disease) in Arab children. Ann Trop Paediatr 1995;15:321-327.
-
(1995)
Ann Trop Paediatr
, vol.15
, pp. 321-327
-
-
Kagalwalla, A.F.1
Al Amir, A.R.2
Khalifa, A.3
Sylven, M.4
Al Ajaji, A.5
Kagalwalla, Y.A.6
-
23
-
-
0029832666
-
Byler-like familial cholestasis in an extended kindred
-
Bourke B, Goggin N, Walsh D, Kennedy S, Setchell KDR, Drumm B. Byler-like familial cholestasis in an extended kindred. Arch Dis Child 1996;75:223-227.
-
(1996)
Arch Dis Child
, vol.75
, pp. 223-227
-
-
Bourke, B.1
Goggin, N.2
Walsh, D.3
Kennedy, S.4
Setchell, K.D.R.5
Drumm, B.6
-
24
-
-
0345369142
-
Familial progressive intrahepatic cholestasis (Byler disease): Evidence that the disease haplotype in the Old Order Amish is also found in the Irish "Traveller" population
-
Barton DE, McQuaid S, Bourke B, Carlton VE, Bull L, Freimer NB, Walsh D, et al. Familial progressive intrahepatic cholestasis (Byler disease): evidence that the disease haplotype in the Old Order Amish is also found in the Irish "Traveller" population [Abstract]. Am J Hum Genet 1996;59:A248.
-
(1996)
Am J Hum Genet
, vol.59
-
-
Barton, D.E.1
McQuaid, S.2
Bourke, B.3
Carlton, V.E.4
Bull, L.5
Freimer, N.B.6
Walsh, D.7
-
25
-
-
0342437349
-
A non-Amish infant with true Byler disease
-
Bull LN, Freimer NB, Balistreri WF, O'Connell N, Setchell KDR, Kocoshis SA, Putnam PE, et al. A non-Amish infant with true Byler disease [Abstract]. Pediatr Pathol Lab Med 1997;17:522-523.
-
(1997)
Pediatr Pathol Lab Med
, vol.17
, pp. 522-523
-
-
Bull, L.N.1
Freimer, N.B.2
Balistreri, W.F.3
O'Connell, N.4
Setchell, K.D.R.5
Kocoshis, S.A.6
Putnam, P.E.7
-
26
-
-
0006780358
-
Byler byou
-
Tazawa Y. Byler byou. Syoukakika 1988;9:543-550.
-
(1988)
Syoukakika
, vol.9
, pp. 543-550
-
-
Tazawa, Y.1
-
27
-
-
0007104141
-
Ontogenesis of bile acid synthesis and metabolism
-
Suchy FJ, ed. St. Louis: Mosby
-
Setchell KDR, Russell DW. Ontogenesis of bile acid synthesis and metabolism. In: Suchy FJ, ed. Liver Disease in Children. St. Louis: Mosby, 1994:81-104.
-
(1994)
Liver Disease in Children
, pp. 81-104
-
-
Setchell, K.D.R.1
Russell, D.W.2
-
28
-
-
0018546249
-
Transformation of chenodeoxycholic acid and ursodeoxycholic acid by human intestinal bacteria
-
Fedorowski T, Salen G, Tint GS, Mosbach E. Transformation of chenodeoxycholic acid and ursodeoxycholic acid by human intestinal bacteria. Gastroenterology 1979;77:1068-1073.
-
(1979)
Gastroenterology
, vol.77
, pp. 1068-1073
-
-
Fedorowski, T.1
Salen, G.2
Tint, G.S.3
Mosbach, E.4
-
29
-
-
0023878924
-
Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis
-
Whitington PR, Whitington GL. Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis. Gastroenterology 1988;95:130-136.
-
(1988)
Gastroenterology
, vol.95
, pp. 130-136
-
-
Whitington, P.R.1
Whitington, G.L.2
-
30
-
-
85030295353
-
Identification of a locus for progressive familial intrahepatic cholestasis (PFIC2) on chromosome 2q24
-
Strautnieks SS, Kagalwalla AF, Tanner MS, Knisely AS, Bull IN, Freimer NB, Kocoshis SA, et al. Identification of a locus for progressive familial intrahepatic cholestasis (PFIC2) on chromosome 2q24. Am J Hum Genet; in press.
-
Am J Hum Genet; in Press
-
-
Strautnieks, S.S.1
Kagalwalla, A.F.2
Tanner, M.S.3
Knisely, A.S.4
Bull, I.N.5
Freimer, N.B.6
Kocoshis, S.A.7
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