-
1
-
-
0024425235
-
Liver transplantation for ornithine transcarbamylase deficiency in a girl
-
Largilliere C, Houssin D, Gottrand F, et al. Liver transplantation for ornithine transcarbamylase deficiency in a girl. J Pediatr 1989: 115: 415–417.
-
(1989)
J Pediatr
, vol.115
, pp. 415-417
-
-
Largilliere, C.1
Houssin, D.2
Gottrand, F.3
-
2
-
-
0023190994
-
Liver disorders in children: The indications for liver replacement in parenchymal and metabolic diseases
-
Mowat AP. Liver disorders in children: The indications for liver replacement in parenchymal and metabolic diseases. Transplant Proc 1987: 19: 3236–3241.
-
(1987)
Transplant Proc
, vol.19
, pp. 3236-3241
-
-
Mowat, A.P.1
-
3
-
-
84901631593
-
Phenylketonuria Scientific Review Conference: State of the science and future research needs
-
Camp KM, Parisi MA, Acosta PB, et al. Phenylketonuria Scientific Review Conference: State of the science and future research needs. Mol Genet Metab 2014: 112: 87–122.
-
(2014)
Mol Genet Metab
, vol.112
, pp. 87-122
-
-
Camp, K.M.1
Parisi, M.A.2
Acosta, P.B.3
-
4
-
-
77955813142
-
Liver transplantation in children with metabolic diseases: The studies of pediatric liver transplantation experience
-
Arnon R, Kerkar N, Davis MK, et al. Liver transplantation in children with metabolic diseases: The studies of pediatric liver transplantation experience. Pediatr Transplant 2010: 14: 796–805.
-
(2010)
Pediatr Transplant
, vol.14
, pp. 796-805
-
-
Arnon, R.1
Kerkar, N.2
Davis, M.K.3
-
5
-
-
79957782621
-
Trading places: Liver transplantation as a treatment, not a cure, for metabolic liver disease
-
Shneider BL, Vockley J, Mazariegos GV. Trading places: Liver transplantation as a treatment, not a cure, for metabolic liver disease. Liver Transpl 2011: 17: 628–630.
-
(2011)
Liver Transpl
, vol.17
, pp. 628-630
-
-
Shneider, B.L.1
Vockley, J.2
Mazariegos, G.V.3
-
6
-
-
84925715713
-
Medical management of children after liver transplantation
-
Miloh T. Medical management of children after liver transplantation. Curr Opin Organ Transplant 2014: 19: 474–479.
-
(2014)
Curr Opin Organ Transplant
, vol.19
, pp. 474-479
-
-
Miloh, T.1
-
7
-
-
84928569868
-
Update on the management of the liver transplant patient
-
Kwong AJ, Fix OK. Update on the management of the liver transplant patient. Curr Opin Gastroenterol 2015: 31: 224–232.
-
(2015)
Curr Opin Gastroenterol
, vol.31
, pp. 224-232
-
-
Kwong, A.J.1
Fix, O.K.2
-
8
-
-
0031750339
-
A molecular model of human branched-chain amino acid metabolism
-
Suryawan A, Hawes JW, Harris RA, Shimomura Y, Jenkins AE, Hutson SM. A molecular model of human branched-chain amino acid metabolism. Am J Clin Nutr 1998: 68: 72–81.
-
(1998)
Am J Clin Nutr
, vol.68
, pp. 72-81
-
-
Suryawan, A.1
Hawes, J.W.2
Harris, R.A.3
Shimomura, Y.4
Jenkins, A.E.5
Hutson, S.M.6
-
9
-
-
84891831528
-
Living donor liver transplantation for pediatric patients with metabolic disorders: The Japanese multicenter registry
-
Kasahara M, Sakamoto S, Horikawa R, et al. Living donor liver transplantation for pediatric patients with metabolic disorders: The Japanese multicenter registry. Pediatr Transplant 2014: 18: 6–15.
-
(2014)
Pediatr Transplant
, vol.18
, pp. 6-15
-
-
Kasahara, M.1
Sakamoto, S.2
Horikawa, R.3
-
10
-
-
84983411297
-
Tyrosinemia type I
-
Copyright, University of Washington, Seattle. 1997–2013. Available at, [Updated 2014 Jul 17]
-
Sniderman King L, Trahms C, Scott CR. [Updated 2014 Jul 17]. Tyrosinemia type I. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997–2013. Available at http://www.genetests.org.
-
(1997)
GeneReviews at GeneTests Medical Genetics Information Resource (database online)
-
-
Sniderman King, L.1
Trahms, C.2
Scott, C.R.3
-
11
-
-
0032703352
-
Indications and outcome of liver transplantation in tyrosinaemia type 1
-
Mohan N, McKiernan P, Preece MA, et al. Indications and outcome of liver transplantation in tyrosinaemia type 1. Eur J Pediatr 1999: 158(Suppl 2): S49–S54.
-
(1999)
Eur J Pediatr
, vol.158
, pp. S49-S54
-
-
Mohan, N.1
McKiernan, P.2
Preece, M.A.3
-
12
-
-
0026675589
-
Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase
-
Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B. Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 1992: 340: 813–817.
-
(1992)
Lancet
, vol.340
, pp. 813-817
-
-
Lindstedt, S.1
Holme, E.2
Lock, E.A.3
Hjalmarson, O.4
Strandvik, B.5
-
13
-
-
33646766481
-
Nitisinone in the treatment of hereditary tyrosinaemia type 1
-
McKiernan PJ. Nitisinone in the treatment of hereditary tyrosinaemia type 1. Drugs 2006: 66: 743–750.
-
(2006)
Drugs
, vol.66
, pp. 743-750
-
-
McKiernan, P.J.1
-
14
-
-
43049172048
-
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: 1229–1236.
-
(2008)
Expert Opin Pharmacother
, vol.9
, pp. 1229-1236
-
-
Santra, S.1
Baumann, U.2
-
15
-
-
45849096439
-
Renal tubular function in children with tyrosinaemia type I treated with nitisinone
-
Santra S, Preece MA, Hulton SA, McKiernan PJ. Renal tubular function in children with tyrosinaemia type I treated with nitisinone. J Inherit Metab Dis 2008: 31: 399–402.
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 399-402
-
-
Santra, S.1
Preece, M.A.2
Hulton, S.A.3
McKiernan, P.J.4
-
16
-
-
84872610862
-
Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1
-
Bartlett DC, Preece MA, Holme E, Lloyd C, Newsome PN, McKiernan PJ. Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1. J Inherit Metab Dis 2013: 36: 15–20.
-
(2013)
J Inherit Metab Dis
, vol.36
, pp. 15-20
-
-
Bartlett, D.C.1
Preece, M.A.2
Holme, E.3
Lloyd, C.4
Newsome, P.N.5
McKiernan, P.J.6
-
18
-
-
0027452091
-
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
-
Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993: 5: 327–337.
-
(1993)
Nat Genet
, vol.5
, pp. 327-337
-
-
Bull, P.C.1
Thomas, G.R.2
Rommens, J.M.3
Forbes, J.R.4
Cox, D.W.5
-
19
-
-
0027364961
-
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
-
Tanzi RE, Petrukhin K, Chernov I, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993: 5: 344–350.
-
(1993)
Nat Genet
, vol.5
, pp. 344-350
-
-
Tanzi, R.E.1
Petrukhin, K.2
Chernov, I.3
-
20
-
-
84871796736
-
Localization of copper and copper transporters in the human brain
-
Davies KM, Hare DJ, Cottam V, et al. Localization of copper and copper transporters in the human brain. Metallomics 2013: 5: 43–51.
-
(2013)
Metallomics
, vol.5
, pp. 43-51
-
-
Davies, K.M.1
Hare, D.J.2
Cottam, V.3
-
22
-
-
84900020097
-
Liver transplantation for Wilson's disease
-
Schilsky ML. Liver transplantation for Wilson's disease. Ann N Y Acad Sci 2014: 1315: 45–49.
-
(2014)
Ann N Y Acad Sci
, vol.1315
, pp. 45-49
-
-
Schilsky, M.L.1
-
23
-
-
84867006907
-
Liver transplantation for Wilson disease
-
Catana AM, Medici V. Liver transplantation for Wilson disease. World J Hepatol 2012: 4: 5–10.
-
(2012)
World J Hepatol
, vol.4
, pp. 5-10
-
-
Catana, A.M.1
Medici, V.2
-
24
-
-
0034057314
-
Effect of liver transplantation on neurological manifestations in Wilson disease
-
Stracciari A, Tempestini A, Borghi A, Guarino M. Effect of liver transplantation on neurological manifestations in Wilson disease. Arch Neurol 2000: 57: 384–386.
-
(2000)
Arch Neurol
, vol.57
, pp. 384-386
-
-
Stracciari, A.1
Tempestini, A.2
Borghi, A.3
Guarino, M.4
-
25
-
-
84894026422
-
Long term results of liver transplantation for Wilson's disease: Experience in France
-
Guillaud O, Dumortier J, Sobesky R, et al. Long term results of liver transplantation for Wilson's disease: Experience in France. J Hepatol 2014: 60: 579–589.
-
(2014)
J Hepatol
, vol.60
, pp. 579-589
-
-
Guillaud, O.1
Dumortier, J.2
Sobesky, R.3
-
26
-
-
25144471713
-
Liver transplantation for Wilson's disease: The burden of neurological and psychiatric disorders
-
Medici V, Mirante VG, Fassati LR, et al. Liver transplantation for Wilson's disease: The burden of neurological and psychiatric disorders. Liver Transpl 2005: 11: 1056–1063.
-
(2005)
Liver Transpl
, vol.11
, pp. 1056-1063
-
-
Medici, V.1
Mirante, V.G.2
Fassati, L.R.3
-
27
-
-
84890282331
-
Advances in alpha-1-antitrypsin deficiency liver disease
-
Teckman JH, Jain A. Advances in alpha-1-antitrypsin deficiency liver disease. Curr Gastroenterol Rep 2014: 16: 367.
-
(2014)
Curr Gastroenterol Rep
, vol.16
, pp. 367
-
-
Teckman, J.H.1
Jain, A.2
-
28
-
-
84889099843
-
Outcomes for recipients of liver transplantation for alpha-1-antitrypsin deficiency-related cirrhosis
-
Carey EJ, Iyer VN, Nelson DR, Nguyen JH, Krowka MJ. Outcomes for recipients of liver transplantation for alpha-1-antitrypsin deficiency-related cirrhosis. Liver Transpl 2013: 19: 1370–1376.
-
(2013)
Liver Transpl
, vol.19
, pp. 1370-1376
-
-
Carey, E.J.1
Iyer, V.N.2
Nelson, D.R.3
Nguyen, J.H.4
Krowka, M.J.5
-
29
-
-
84906794228
-
Liver transplantation in the management of porphyria
-
Singal AK, Parker C, Bowden C, Thapar M, Liu L, McGuire BM. Liver transplantation in the management of porphyria. Hepatology 2014: 60: 1082–1089.
-
(2014)
Hepatology
, vol.60
, pp. 1082-1089
-
-
Singal, A.K.1
Parker, C.2
Bowden, C.3
Thapar, M.4
Liu, L.5
McGuire, B.M.6
-
30
-
-
84870512857
-
The porphyrias: Advances in diagnosis and treatment
-
Balwani M, Desnick RJ. The porphyrias: Advances in diagnosis and treatment. Blood 2012: 120: 4496–4504.
-
(2012)
Blood
, vol.120
, pp. 4496-4504
-
-
Balwani, M.1
Desnick, R.J.2
-
31
-
-
1542271496
-
Liver transplantation as a cure for acute intermittent porphyria
-
Soonawalla ZF, Orug T, Badminton MN, et al. Liver transplantation as a cure for acute intermittent porphyria. Lancet 2004: 363: 705–706.
-
(2004)
Lancet
, vol.363
, pp. 705-706
-
-
Soonawalla, Z.F.1
Orug, T.2
Badminton, M.N.3
-
33
-
-
14844362079
-
Recommendations for the diagnosis and treatment of the acute porphyrias
-
Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med 2005: 142: 439–450.
-
(2005)
Ann Intern Med
, vol.142
, pp. 439-450
-
-
Anderson, K.E.1
Bloomer, J.R.2
Bonkovsky, H.L.3
-
34
-
-
84856253911
-
Liver transplantation for acute intermittent porphyria is complicated by a high rate of hepatic artery thrombosis
-
Dowman JK, Gunson BK, Mirza DF, et al. Liver transplantation for acute intermittent porphyria is complicated by a high rate of hepatic artery thrombosis. Liver Transpl 2012: 18: 195–200.
-
(2012)
Liver Transpl
, vol.18
, pp. 195-200
-
-
Dowman, J.K.1
Gunson, B.K.2
Mirza, D.F.3
-
35
-
-
84867914053
-
Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow-up
-
Stewart MF. Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow-up. J Clin Pathol 2012: 65: 976–980.
-
(2012)
J Clin Pathol
, vol.65
, pp. 976-980
-
-
Stewart, M.F.1
-
36
-
-
84860720890
-
Liver transplantation because of acute liver failure due to heme arginate overdose in a patient with acute intermittent porphyria
-
Frei P, Minder EI, Corti N, et al. Liver transplantation because of acute liver failure due to heme arginate overdose in a patient with acute intermittent porphyria. Case Rep Gastroenterol 2012: 6: 190–196.
-
(2012)
Case Rep Gastroenterol
, vol.6
, pp. 190-196
-
-
Frei, P.1
Minder, E.I.2
Corti, N.3
-
37
-
-
77951954781
-
Combined liver and kidney transplantation in acute intermittent porphyria
-
Wahlin S, Harper P, Sardh E, Andersson C, Andersson DE, Ericzon BG. Combined liver and kidney transplantation in acute intermittent porphyria. Transpl Int 2010: 23: e18–e21.
-
(2010)
Transpl Int
, vol.23
, pp. e18-e21
-
-
Wahlin, S.1
Harper, P.2
Sardh, E.3
Andersson, C.4
Andersson, D.E.5
Ericzon, B.G.6
-
38
-
-
0033776409
-
Renal symptomatology in patients with acute intermittent porphyria. A population-based study
-
Andersson C, Wikberg A, Stegmayr B, Lithner F. Renal symptomatology in patients with acute intermittent porphyria. A population-based study. J Intern Med 2000: 248: 319–325.
-
(2000)
J Intern Med
, vol.248
, pp. 319-325
-
-
Andersson, C.1
Wikberg, A.2
Stegmayr, B.3
Lithner, F.4
-
39
-
-
0018843330
-
Erythropoietic protoporphyria with hepatic cirrhosis
-
Wells MM, Golitz LE, Bender BJ. Erythropoietic protoporphyria with hepatic cirrhosis. Arch Dermatol 1980: 116: 429–432.
-
(1980)
Arch Dermatol
, vol.116
, pp. 429-432
-
-
Wells, M.M.1
Golitz, L.E.2
Bender, B.J.3
-
40
-
-
30444434611
-
Liver transplantation for erythropoietic protoporphyria liver disease
-
McGuire BM, Bonkovsky HL, Carithers RL Jr, et al. Liver transplantation for erythropoietic protoporphyria liver disease. Liver Transpl 2005: 11: 1590–1596.
-
(2005)
Liver Transpl
, vol.11
, pp. 1590-1596
-
-
McGuire, B.M.1
Bonkovsky, H.L.2
Carithers, R.L.3
-
41
-
-
80051983729
-
Liver transplantation for erythropoietic protoporphyria in Europe
-
Wahlin S, Stal P, Adam R, et al. Liver transplantation for erythropoietic protoporphyria in Europe. Liver Transpl 2011: 17: 1021–1026.
-
(2011)
Liver Transpl
, vol.17
, pp. 1021-1026
-
-
Wahlin, S.1
Stal, P.2
Adam, R.3
-
42
-
-
0025760443
-
Erythropoietic protoporphyria: Unusual skin and neurological problems after liver transplantation
-
Herbert A, Corbin D, Williams A, Thompson D, Buckels J, Elias E. Erythropoietic protoporphyria: Unusual skin and neurological problems after liver transplantation. Gastroenterology 1991: 100: 1753–1757.
-
(1991)
Gastroenterology
, vol.100
, pp. 1753-1757
-
-
Herbert, A.1
Corbin, D.2
Williams, A.3
Thompson, D.4
Buckels, J.5
Elias, E.6
-
43
-
-
0027379696
-
Evidence for neurological dysfunction in end-stage protoporphyric liver disease
-
Rank JM, Carithers R, Bloomer J. Evidence for neurological dysfunction in end-stage protoporphyric liver disease. Hepatology 1993: 18: 1404–1409.
-
(1993)
Hepatology
, vol.18
, pp. 1404-1409
-
-
Rank, J.M.1
Carithers, R.2
Bloomer, J.3
-
44
-
-
84983393253
-
Maple syrup urine disease. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online)
-
[Updated 2013 May 9]., Copyright, University of Washington, Seattle
-
Strauss KA, Puffenberger EG, Morton DH. [Updated 2013 May 9]. Maple syrup urine disease. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle, 1997–1997. Available at http://www.genetests.org.
-
(1997)
-
-
Strauss, K.A.1
Puffenberger, E.G.2
Morton, D.H.3
-
45
-
-
82955248056
-
Liver transplantation for classical maple syrup urine disease: Long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience
-
Mazariegos GV, Morton DH, Sindhi R, et al. Liver transplantation for classical maple syrup urine disease: Long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience. J Pediatr 2012: 160: 116–121 e111.
-
(2012)
J Pediatr
, vol.160
, pp. 116-121
-
-
Mazariegos, G.V.1
Morton, D.H.2
Sindhi, R.3
-
46
-
-
33644892168
-
Elective liver transplantation for the treatment of classical maple syrup urine disease
-
Strauss KA, Mazariegos GV, Sindhi R, et al. Elective liver transplantation for the treatment of classical maple syrup urine disease. Am J Transplant 2006: 6: 557–564.
-
(2006)
Am J Transplant
, vol.6
, pp. 557-564
-
-
Strauss, K.A.1
Mazariegos, G.V.2
Sindhi, R.3
-
47
-
-
0017294315
-
Hazards of anesthesia and operation in maple-syrup-urine disease
-
Delaney A, Gal TJ. Hazards of anesthesia and operation in maple-syrup-urine disease. Anesthesiology 1976: 44: 83–86.
-
(1976)
Anesthesiology
, vol.44
, pp. 83-86
-
-
Delaney, A.1
Gal, T.J.2
-
48
-
-
0029920238
-
Anaesthetic management in maple syrup urine disease
-
Kahraman S, Ercan M, Akkus O, Ercelen O, Erdem K, Coskun T. Anaesthetic management in maple syrup urine disease. Anaesthesia 1996: 51: 575–578.
-
(1996)
Anaesthesia
, vol.51
, pp. 575-578
-
-
Kahraman, S.1
Ercan, M.2
Akkus, O.3
Ercelen, O.4
Erdem, K.5
Coskun, T.6
-
49
-
-
57349196794
-
Perioperative management of a patient with maple syrup urine disease
-
Fuentes-Garcia D, Falcon-Arana L. Perioperative management of a patient with maple syrup urine disease. Br J Anaesth 2009: 102: 144–145.
-
(2009)
Br J Anaesth
, vol.102
, pp. 144-145
-
-
Fuentes-Garcia, D.1
Falcon-Arana, L.2
-
50
-
-
84983393736
-
(Updated 2015 Apr 9). Urea cycle disorders overview. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online)
-
Copyright, University of Washington, Seattle
-
Ah Mew N, Lanpher BC, Gropman A, et al. (Updated 2015 Apr 9). Urea cycle disorders overview. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle, 1997–2013. Available at http://www.genetests.org.
-
(1997)
-
-
Ah Mew, N.1
Lanpher, B.C.2
Gropman, A.3
-
51
-
-
84874487768
-
Liver transplantation for urea cycle disorders in pediatric patients: A single-center experience
-
Kim IK, Niemi AK, Krueger C, et al. Liver transplantation for urea cycle disorders in pediatric patients: A single-center experience. Pediatr Transplant 2013: 17: 158–167.
-
(2013)
Pediatr Transplant
, vol.17
, pp. 158-167
-
-
Kim, I.K.1
Niemi, A.K.2
Krueger, C.3
-
52
-
-
1642506318
-
The role of liver transplantation in urea cycle disorders
-
Leonard JV, McKiernan PJ. The role of liver transplantation in urea cycle disorders. Mol Genet Metab 2004: 81(Suppl 1): S74–S78.
-
(2004)
Mol Genet Metab
, vol.81
, pp. S74-S78
-
-
Leonard, J.V.1
McKiernan, P.J.2
-
53
-
-
30444448372
-
Current role of liver transplantation for the treatment of urea cycle disorders: A review of the worldwide English literature and 13 cases at Kyoto University
-
Morioka D, Kasahara M, Takada Y, et al. Current role of liver transplantation for the treatment of urea cycle disorders: A review of the worldwide English literature and 13 cases at Kyoto University. Liver Transpl 2005: 11: 1332–1342.
-
(2005)
Liver Transpl
, vol.11
, pp. 1332-1342
-
-
Morioka, D.1
Kasahara, M.2
Takada, Y.3
-
54
-
-
79957526702
-
Living donor liver transplantation for ornithine transcarbamylase deficiency
-
Wakiya T, Sanada Y, Mizuta K, et al. Living donor liver transplantation for ornithine transcarbamylase deficiency. Pediatr Transplant 2011: 15: 390–395.
-
(2011)
Pediatr Transplant
, vol.15
, pp. 390-395
-
-
Wakiya, T.1
Sanada, Y.2
Mizuta, K.3
-
55
-
-
0029012513
-
Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy
-
Hasegawa T, Tzakis AG, Todo S, et al. Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy. J Pediatr Surg 1995: 30: 863–865.
-
(1995)
J Pediatr Surg
, vol.30
, pp. 863-865
-
-
Hasegawa, T.1
Tzakis, A.G.2
Todo, S.3
-
56
-
-
84926639867
-
Liver transplantation prevents progressive neurological impairment in argininemia
-
Silva ES, Cardoso ML, Vilarinho L, Medina M, Barbot C, Martins E. Liver transplantation prevents progressive neurological impairment in argininemia. JIMD Rep 2013: 11: 25–30.
-
(2013)
JIMD Rep
, vol.11
, pp. 25-30
-
-
Silva, E.S.1
Cardoso, M.L.2
Vilarinho, L.3
Medina, M.4
Barbot, C.5
Martins, E.6
-
57
-
-
84864617833
-
Living donor liver transplantation from an asymptomatic mother who was a carrier for ornithine transcarbamylase deficiency
-
Wakiya T, Sanada Y, Urahashi T, et al. Living donor liver transplantation from an asymptomatic mother who was a carrier for ornithine transcarbamylase deficiency. Pediatr Transplant 2012: 16: E196–E200.
-
(2012)
Pediatr Transplant
, vol.16
, pp. E196-E200
-
-
Wakiya, T.1
Sanada, Y.2
Urahashi, T.3
-
58
-
-
0035142619
-
Current strategies for the management of neonatal urea cycle disorders
-
Summar M. Current strategies for the management of neonatal urea cycle disorders. J Pediatr 2001: 138: S30–S39.
-
(2001)
J Pediatr
, vol.138
, pp. S30-S39
-
-
Summar, M.1
-
59
-
-
0031687686
-
The role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency
-
Busuttil AA, Goss JA, Seu P, et al. The role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency. Liver Transpl Surg 1998: 4: 350–354.
-
(1998)
Liver Transpl Surg
, vol.4
, pp. 350-354
-
-
Busuttil, A.A.1
Goss, J.A.2
Seu, P.3
-
60
-
-
78649874056
-
Living-donor liver transplantation for carbamoyl phosphate synthetase 1 deficiency
-
Kasahara M, Sakamoto S, Shigeta T, et al. Living-donor liver transplantation for carbamoyl phosphate synthetase 1 deficiency. Pediatr Transplant 2010: 14: 1036–1040.
-
(2010)
Pediatr Transplant
, vol.14
, pp. 1036-1040
-
-
Kasahara, M.1
Sakamoto, S.2
Shigeta, T.3
-
61
-
-
78649449365
-
Glycogen storage disease type I and G6Pase-beta deficiency: Etiology and therapy
-
Chou JY, Jun HS, Mansfield BC. Glycogen storage disease type I and G6Pase-beta deficiency: Etiology and therapy. Nat Rev Endocrinol 2010: 6: 676–688.
-
(2010)
Nat Rev Endocrinol
, vol.6
, pp. 676-688
-
-
Chou, J.Y.1
Jun, H.S.2
Mansfield, B.C.3
-
62
-
-
0032726517
-
Liver transplantation for glycogen storage disease types I, III, and IV
-
Matern D, Starzl TE, Arnaout W, et al. Liver transplantation for glycogen storage disease types I, III, and IV. Eur J Pediatr 1999: 158(Suppl 2): S43–S48.
-
(1999)
Eur J Pediatr
, vol.158
, pp. S43-S48
-
-
Matern, D.1
Starzl, T.E.2
Arnaout, W.3
-
63
-
-
40149095619
-
Liver transplantation in children with glycogen storage disease: Controversies and evaluation of the risk/benefit of this procedure
-
Davis MK, Weinstein DA. Liver transplantation in children with glycogen storage disease: Controversies and evaluation of the risk/benefit of this procedure. Pediatr Transplant 2008: 12: 137–145.
-
(2008)
Pediatr Transplant
, vol.12
, pp. 137-145
-
-
Davis, M.K.1
Weinstein, D.A.2
-
64
-
-
0027251616
-
Liver transplantation for type I and type IV glycogen storage disease
-
Selby R, Starzl TE, Yunis E, et al. Liver transplantation for type I and type IV glycogen storage disease. Eur J Pediatr 1993: 152(Suppl 1): S71–S76.
-
(1993)
Eur J Pediatr
, vol.152
, pp. S71-S76
-
-
Selby, R.1
Starzl, T.E.2
Yunis, E.3
-
65
-
-
0026560136
-
Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis
-
Sokal EM, Van Hoof F, Alberti D, de Ville de Goyet J, de Barsy T, Otte JB. Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis. Eur J Pediatr 1992: 151: 200–203.
-
(1992)
Eur J Pediatr
, vol.151
, pp. 200-203
-
-
Sokal, E.M.1
Van Hoof, F.2
Alberti, D.3
de Ville de Goyet, J.4
de Barsy, T.5
Otte, J.B.6
-
66
-
-
0027154217
-
Glycogen storage disease I and hepatocellular tumours
-
Bianchi L. Glycogen storage disease I and hepatocellular tumours. Eur J Pediatr 1993: 152(Suppl 1): S63–S70.
-
(1993)
Eur J Pediatr
, vol.152
, pp. S63-S70
-
-
Bianchi, L.1
-
67
-
-
0030987931
-
Hepatocellular adenomas in glycogen storage disease type I and III: A series of 43 patients and review of the literature
-
Labrune P, Trioche P, Duvaltier I, Chevalier P, Odievre M. Hepatocellular adenomas in glycogen storage disease type I and III: A series of 43 patients and review of the literature. J Pediatr Gastroenterol Nutr 1997: 24: 276–279.
-
(1997)
J Pediatr Gastroenterol Nutr
, vol.24
, pp. 276-279
-
-
Labrune, P.1
Trioche, P.2
Duvaltier, I.3
Chevalier, P.4
Odievre, M.5
-
69
-
-
84863725491
-
Glycemic management in living donor liver transplantation for patients with glycogen storage disease type 1b
-
Karaki C, Kasahara M, Sakamoto S, et al. Glycemic management in living donor liver transplantation for patients with glycogen storage disease type 1b. Pediatr Transplant 2012: 16: 465–470.
-
(2012)
Pediatr Transplant
, vol.16
, pp. 465-470
-
-
Karaki, C.1
Kasahara, M.2
Sakamoto, S.3
-
70
-
-
71249092974
-
Living donor liver transplantation for glycogen storage disease type Ib
-
Kasahara M, Horikawa R, Sakamoto S, et al. Living donor liver transplantation for glycogen storage disease type Ib. Liver Transpl 2009: 15: 1867–1871.
-
(2009)
Liver Transpl
, vol.15
, pp. 1867-1871
-
-
Kasahara, M.1
Horikawa, R.2
Sakamoto, S.3
-
71
-
-
78049236640
-
Long term G-CSF-induced remission of ulcerative colitis-like inflammatory bowel disease in a patient with glycogen storage disease Ib and evaluation of associated neutrophil function
-
Alsultan A, Sokol RJ, Lovell MA, Thurman G, Ambruso DR. Long term G-CSF-induced remission of ulcerative colitis-like inflammatory bowel disease in a patient with glycogen storage disease Ib and evaluation of associated neutrophil function. Pediatr Blood Cancer 2010: 55: 1410–1413.
-
(2010)
Pediatr Blood Cancer
, vol.55
, pp. 1410-1413
-
-
Alsultan, A.1
Sokol, R.J.2
Lovell, M.A.3
Thurman, G.4
Ambruso, D.R.5
-
72
-
-
0025977682
-
Neutrophil dysfunction in glycogen storage disease Ib: Association with Crohn's-like colitis
-
Couper R, Kapelushnik J, Griffiths AM. Neutrophil dysfunction in glycogen storage disease Ib: Association with Crohn's-like colitis. Gastroenterology 1991: 100: 549–554.
-
(1991)
Gastroenterology
, vol.100
, pp. 549-554
-
-
Couper, R.1
Kapelushnik, J.2
Griffiths, A.M.3
-
73
-
-
0034777806
-
Inflammatory bowel disease-like colitis in glycogen storage disease type 1b
-
Yamaguchi T, Ihara K, Matsumoto T, et al. Inflammatory bowel disease-like colitis in glycogen storage disease type 1b. Inflamm Bowel Dis 2001: 7: 128–132.
-
(2001)
Inflamm Bowel Dis
, vol.7
, pp. 128-132
-
-
Yamaguchi, T.1
Ihara, K.2
Matsumoto, T.3
-
74
-
-
33646671879
-
Severe lactic acidosis and nephrolithiasis in an infant–etiology?: Type 1 glycogen storage disease (GSD)
-
Guven AG, Koyun M, Artan R, Dursun O, Baysal YE, Akman S. Severe lactic acidosis and nephrolithiasis in an infant–etiology?: Type 1 glycogen storage disease (GSD). Pediatr Nephrol 2006: 21: 761–765.
-
(2006)
Pediatr Nephrol
, vol.21
, pp. 761-765
-
-
Guven, A.G.1
Koyun, M.2
Artan, R.3
Dursun, O.4
Baysal, Y.E.5
Akman, S.6
-
75
-
-
34848918869
-
Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia
-
Reddy SK, Kishnani PS, Sullivan JA, et al. Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia. J Hepatol 2007: 47: 658–663.
-
(2007)
J Hepatol
, vol.47
, pp. 658-663
-
-
Reddy, S.K.1
Kishnani, P.S.2
Sullivan, J.A.3
-
76
-
-
0036387478
-
Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I)
-
Rake JP, Visser G, Labrune P, et al. Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 2002: 161(Suppl 1): S112–S119.
-
(2002)
Eur J Pediatr
, vol.161
, pp. S112-S119
-
-
Rake, J.P.1
Visser, G.2
Labrune, P.3
-
77
-
-
0030054818
-
Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle
-
Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. J Clin Invest 1996: 98: 352–357.
-
(1996)
J Clin Invest
, vol.98
, pp. 352-357
-
-
Shen, J.1
Bao, Y.2
Liu, H.M.3
Lee, P.4
Leonard, J.V.5
Chen, Y.T.6
-
78
-
-
0020391913
-
A report on an adult case of type III glycogenosis with primary liver cancer and liver cirrhosis
-
Shimizu J, Shiraishi H, Sakurabayashi S, et al. A report on an adult case of type III glycogenosis with primary liver cancer and liver cirrhosis. Nihon Shokakibyo Gakkai Zasshi 1982: 79: 2328–2332.
-
(1982)
Nihon Shokakibyo Gakkai Zasshi
, vol.79
, pp. 2328-2332
-
-
Shimizu, J.1
Shiraishi, H.2
Sakurabayashi, S.3
-
79
-
-
0027516542
-
Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease
-
Starzl TE, Demetris AJ, Trucco M, et al. Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease. N Engl J Med 1993: 328: 745–749.
-
(1993)
N Engl J Med
, vol.328
, pp. 745-749
-
-
Starzl, T.E.1
Demetris, A.J.2
Trucco, M.3
-
80
-
-
79960803374
-
Anesthesia considerations in a patient with McArdle disease: A case report
-
Choleva AJ. Anesthesia considerations in a patient with McArdle disease: A case report. AANA J 2011: 79: 243–247.
-
(2011)
AANA J
, vol.79
, pp. 243-247
-
-
Choleva, A.J.1
-
81
-
-
77950652553
-
Anesthetic management in a child with Glycogen Storage Disease IV
-
De Armendi A, Patel V, Mayhew JF. Anesthetic management in a child with Glycogen Storage Disease IV. Paediatr Anaesth 2010: 20: 475.
-
(2010)
Paediatr Anaesth
, vol.20
, pp. 475
-
-
De Armendi, A.1
Patel, V.2
Mayhew, J.F.3
-
82
-
-
0036414422
-
Perioperative management of a child with glycogen storage disease type III undergoing cardiopulmonary bypass and repair of an atrial septal defect
-
Mohart D, Russo P, Tobias JD. Perioperative management of a child with glycogen storage disease type III undergoing cardiopulmonary bypass and repair of an atrial septal defect. Paediatr Anaesth 2002: 12: 649–654.
-
(2002)
Paediatr Anaesth
, vol.12
, pp. 649-654
-
-
Mohart, D.1
Russo, P.2
Tobias, J.D.3
-
83
-
-
0036387417
-
Glycogen storage disease type I: Diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)
-
Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP. Glycogen storage disease type I: Diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 2002: 161(Suppl 1): S20–S34.
-
(2002)
Eur J Pediatr
, vol.161
, pp. S20-S34
-
-
Rake, J.P.1
Visser, G.2
Labrune, P.3
Leonard, J.V.4
Ullrich, K.5
Smit, G.P.6
-
84
-
-
0042360213
-
Chronic renal failure after transplantation of a nonrenal organ
-
Ojo AO, Held PJ, Port FK, et al. Chronic renal failure after transplantation of a nonrenal organ. N Engl J Med 2003: 349: 931–940.
-
(2003)
N Engl J Med
, vol.349
, pp. 931-940
-
-
Ojo, A.O.1
Held, P.J.2
Port, F.K.3
-
85
-
-
0026764632
-
Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient
-
Ritter JK, Yeatman MT, Ferreira P, Owens IS. Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient. J Clin Invest 1992: 90: 150–155.
-
(1992)
J Clin Invest
, vol.90
, pp. 150-155
-
-
Ritter, J.K.1
Yeatman, M.T.2
Ferreira, P.3
Owens, I.S.4
-
86
-
-
33645215279
-
Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease
-
Strauss KA, Robinson DL, Vreman HJ, Puffenberger EG, Hart G, Morton DH. Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease. Eur J Pediatr 2006: 165: 306–319.
-
(2006)
Eur J Pediatr
, vol.165
, pp. 306-319
-
-
Strauss, K.A.1
Robinson, D.L.2
Vreman, H.J.3
Puffenberger, E.G.4
Hart, G.5
Morton, D.H.6
-
87
-
-
0041859698
-
Treatment of Crigler-Najjar type 1 disease: Relevance of early liver transplantation
-
Schauer R, Stangl M, Lang T, et al. Treatment of Crigler-Najjar type 1 disease: Relevance of early liver transplantation. J Pediatr Surg 2003: 38: 1227–1231.
-
(2003)
J Pediatr Surg
, vol.38
, pp. 1227-1231
-
-
Schauer, R.1
Stangl, M.2
Lang, T.3
-
88
-
-
83455246654
-
Auxiliary liver transplantation: A form of gene therapy in selective metabolic disorders
-
Shanmugam NP, Perumalla R, Gopinath R, et al. Auxiliary liver transplantation: A form of gene therapy in selective metabolic disorders. J Clin Exp Hepatol 2011: 1: 118–120.
-
(2011)
J Clin Exp Hepatol
, vol.1
, pp. 118-120
-
-
Shanmugam, N.P.1
Perumalla, R.2
Gopinath, R.3
-
90
-
-
33846424582
-
The anesthetic implications of Crigler-Najjar syndrome
-
Robards C, Brull SJ. The anesthetic implications of Crigler-Najjar syndrome. Anesth Analg 2007: 104: 435–436.
-
(2007)
Anesth Analg
, vol.104
, pp. 435-436
-
-
Robards, C.1
Brull, S.J.2
-
91
-
-
84881416930
-
Primary hyperoxaluria
-
Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med 2013: 369: 649–658.
-
(2013)
N Engl J Med
, vol.369
, pp. 649-658
-
-
Cochat, P.1
Rumsby, G.2
-
92
-
-
0023272499
-
Oxalate dynamics in chronic renal failure. Comparison with normal subjects and patients with primary hyperoxaluria
-
Morgan SH, Purkiss P, Watts RW, Mansell MA. Oxalate dynamics in chronic renal failure. Comparison with normal subjects and patients with primary hyperoxaluria. Nephron 1987: 46: 253–257.
-
(1987)
Nephron
, vol.46
, pp. 253-257
-
-
Morgan, S.H.1
Purkiss, P.2
Watts, R.W.3
Mansell, M.A.4
-
93
-
-
84889565003
-
Combined paediatric liver-kidney transplantation: Analysis of our experience and literature review
-
Strobele B, Loveland J, Britz R, Gottlich E, Welthagen A, Botha J. Combined paediatric liver-kidney transplantation: Analysis of our experience and literature review. S Afr Med J 2013: 103: 925–929.
-
(2013)
S Afr Med J
, vol.103
, pp. 925-929
-
-
Strobele, B.1
Loveland, J.2
Britz, R.3
Gottlich, E.4
Welthagen, A.5
Botha, J.6
-
94
-
-
0032703353
-
Combined liver-kidney transplantation in primary hyperoxaluria type 1
-
Cochat P, Gaulier JM, Koch Nogueira PC, et al. Combined liver-kidney transplantation in primary hyperoxaluria type 1. Eur J Pediatr 1999: 158(Suppl 2): S75–S80.
-
(1999)
Eur J Pediatr
, vol.158
, pp. S75-S80
-
-
Cochat, P.1
Gaulier, J.M.2
Koch Nogueira, P.C.3
-
95
-
-
0031960611
-
The results of combined liver/kidney transplantation for primary hyperoxaluria (PH1) 1984-1997. The European PH1 transplant registry report. European PH1 Transplantation Study Group
-
Jamieson NV. The results of combined liver/kidney transplantation for primary hyperoxaluria (PH1) 1984-1997. The European PH1 transplant registry report. European PH1 Transplantation Study Group. J Nephrol 1998: 11(Suppl 1): 36–41.
-
(1998)
J Nephrol
, vol.11
, pp. 36-41
-
-
Jamieson, N.V.1
-
96
-
-
0027406820
-
Should liver transplantation be performed before advanced renal insufficiency in primary hyperoxaluria type 1?
-
discussion 218–219
-
Cochat P, Scharer K. Should liver transplantation be performed before advanced renal insufficiency in primary hyperoxaluria type 1? Pediatr Nephrol 1993: 7: 212–218; discussion 218–219.
-
(1993)
Pediatr Nephrol
, vol.7
, pp. 212-218
-
-
Cochat, P.1
Scharer, K.2
-
97
-
-
84919791025
-
Two-step transplantation for primary hyperoxaluria: A winning strategy to prevent progression of systemic oxalosis in early onset renal insufficiency cases
-
Sasaki K, Sakamoto S, Uchida H, et al. Two-step transplantation for primary hyperoxaluria: A winning strategy to prevent progression of systemic oxalosis in early onset renal insufficiency cases. Pediatr Transplant 2015: 19: E1–E6.
-
(2015)
Pediatr Transplant
, vol.19
, pp. E1-E6
-
-
Sasaki, K.1
Sakamoto, S.2
Uchida, H.3
-
98
-
-
84912109147
-
Long-term results of combined liver-kidney transplantation for primary hyperoxaluria type 1: The French experience
-
Compagnon P, Metzler P, Samuel D, et al. Long-term results of combined liver-kidney transplantation for primary hyperoxaluria type 1: The French experience. Liver Transpl 2014: 20: 1475–1485.
-
(2014)
Liver Transpl
, vol.20
, pp. 1475-1485
-
-
Compagnon, P.1
Metzler, P.2
Samuel, D.3
-
99
-
-
79951863700
-
Progressive familial intrahepatic cholestasis (PFIC) type 1, 2, and 3: A review of the liver pathology findings
-
Morotti RA, Suchy FJ, Magid MS. Progressive familial intrahepatic cholestasis (PFIC) type 1, 2, and 3: A review of the liver pathology findings. Semin Liver Dis 2011: 31: 3–10.
-
(2011)
Semin Liver Dis
, vol.31
, pp. 3-10
-
-
Morotti, R.A.1
Suchy, F.J.2
Magid, M.S.3
-
100
-
-
21244440246
-
Progressive familial intrahepatic cholestasis: Genetic disorders of biliary transporters
-
Harris MJ, Le Couteur DG, Arias IM. Progressive familial intrahepatic cholestasis: Genetic disorders of biliary transporters. J Gastroenterol Hepatol 2005: 20: 807–817.
-
(2005)
J Gastroenterol Hepatol
, vol.20
, pp. 807-817
-
-
Harris, M.J.1
Le Couteur, D.G.2
Arias, I.M.3
-
101
-
-
0344563417
-
Treatment of progressive familial intrahepatic cholestasis: Liver transplantation or partial external biliary diversion
-
Ismail H, Kalicinski P, Markiewicz M, et al. Treatment of progressive familial intrahepatic cholestasis: Liver transplantation or partial external biliary diversion. Pediatr Transplant 1999: 3: 219–224.
-
(1999)
Pediatr Transplant
, vol.3
, pp. 219-224
-
-
Ismail, H.1
Kalicinski, P.2
Markiewicz, M.3
-
102
-
-
84858202640
-
Normalization of serum bile acids after partial external biliary diversion indicates an excellent long-term outcome in children with progressive familial intrahepatic cholestasis
-
Schukfeh N, Metzelder ML, Petersen C, et al. Normalization of serum bile acids after partial external biliary diversion indicates an excellent long-term outcome in children with progressive familial intrahepatic cholestasis. J Pediatr Surg 2012: 47: 501–505.
-
(2012)
J Pediatr Surg
, vol.47
, pp. 501-505
-
-
Schukfeh, N.1
Metzelder, M.L.2
Petersen, C.3
-
103
-
-
34547400999
-
Liver transplantation for progressive familial intrahepatic cholestasis: Clinical and histopathological findings, outcome and impact on growth
-
Aydogdu S, Cakir M, Arikan C, et al. Liver transplantation for progressive familial intrahepatic cholestasis: Clinical and histopathological findings, outcome and impact on growth. Pediatr Transplant 2007: 11: 634–640.
-
(2007)
Pediatr Transplant
, vol.11
, pp. 634-640
-
-
Aydogdu, S.1
Cakir, M.2
Arikan, C.3
-
104
-
-
38449123587
-
Liver transplantation in children with progressive familial intrahepatic cholestasis
-
Englert C, Grabhorn E, Richter A, Rogiers X, Burdelski M, Ganschow R. Liver transplantation in children with progressive familial intrahepatic cholestasis. Transplantation 2007: 84: 1361–1363.
-
(2007)
Transplantation
, vol.84
, pp. 1361-1363
-
-
Englert, C.1
Grabhorn, E.2
Richter, A.3
Rogiers, X.4
Burdelski, M.5
Ganschow, R.6
-
105
-
-
77957346784
-
Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2
-
Maggiore G, Gonzales E, Sciveres M, et al. Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2. J Hepatol 2010: 53: 981–986.
-
(2010)
J Hepatol
, vol.53
, pp. 981-986
-
-
Maggiore, G.1
Gonzales, E.2
Sciveres, M.3
-
106
-
-
70349626199
-
Recurrence of bile salt export pump deficiency after liver transplantation
-
Jara P, Hierro L, Martinez-Fernandez P, et al. Recurrence of bile salt export pump deficiency after liver transplantation. N Engl J Med 2009: 361: 1359–1367.
-
(2009)
N Engl J Med
, vol.361
, pp. 1359-1367
-
-
Jara, P.1
Hierro, L.2
Martinez-Fernandez, P.3
-
107
-
-
84937546595
-
Autoimmune BSEP disease: Disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis
-
Kubitz R, Droge C, Kluge S, et al. Autoimmune BSEP disease: Disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis. Clin Rev Allergy Immunol 2015: 48: 273–284.
-
(2015)
Clin Rev Allergy Immunol
, vol.48
, pp. 273-284
-
-
Kubitz, R.1
Droge, C.2
Kluge, S.3
-
108
-
-
84956724129
-
Bile salt export pump-reactive antibodies form a polyclonal, multi-inhibitory response in antibody-induced BSEP deficiency
-
Stindt J, Kluge S, Droge C, et al. Bile salt export pump-reactive antibodies form a polyclonal, multi-inhibitory response in antibody-induced BSEP deficiency. Hepatology 2015: 63: 524–537.
-
(2015)
Hepatology
, vol.63
, pp. 524-537
-
-
Stindt, J.1
Kluge, S.2
Droge, C.3
-
109
-
-
84889035195
-
Rituximab as therapy for the recurrence of bile salt export pump deficiency after liver transplantation
-
Lin HC, Alvarez L, Laroche G, et al. Rituximab as therapy for the recurrence of bile salt export pump deficiency after liver transplantation. Liver Transpl 2013: 19: 1403–1410.
-
(2013)
Liver Transpl
, vol.19
, pp. 1403-1410
-
-
Lin, H.C.1
Alvarez, L.2
Laroche, G.3
-
110
-
-
84901320400
-
Familial hypercholesterolemia: A review
-
Varghese MJ. Familial hypercholesterolemia: A review. Ann Pediatr Cardiol 2014: 7: 107–117.
-
(2014)
Ann Pediatr Cardiol
, vol.7
, pp. 107-117
-
-
Varghese, M.J.1
-
111
-
-
84983437152
-
(2014 Jan 2). Familial hypercholesterolemia. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online)
-
Copyright, University of Washington, Seattle
-
Youngblom E, Knowles JW. (2014 Jan 2). Familial hypercholesterolemia. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997–2013. Available at http://www.genetests.org.
-
(1997)
-
-
Youngblom, E.1
Knowles, J.W.2
-
112
-
-
84904642201
-
Liver transplantation for the treatment of homozygous familial hypercholesterolaemia in an era of emerging lipid-lowering therapies
-
Page MM, Ekinci EI, Jones RM, Angus PW, Gow PJ, O'Brien RC. Liver transplantation for the treatment of homozygous familial hypercholesterolaemia in an era of emerging lipid-lowering therapies. Intern Med J 2014: 44: 601–604.
-
(2014)
Intern Med J
, vol.44
, pp. 601-604
-
-
Page, M.M.1
Ekinci, E.I.2
Jones, R.M.3
Angus, P.W.4
Gow, P.J.5
O'Brien, R.C.6
-
113
-
-
84880608435
-
Recent advances in the treatment of homozygous familial hypercholesterolaemia
-
Marais AD, Blom DJ. Recent advances in the treatment of homozygous familial hypercholesterolaemia. Curr Opin Lipidol 2013: 24: 288–294.
-
(2013)
Curr Opin Lipidol
, vol.24
, pp. 288-294
-
-
Marais, A.D.1
Blom, D.J.2
-
114
-
-
34250619179
-
Long-term outcome after living donor liver transplantation for two cases of homozygous familial hypercholesterolemia from a heterozygous donor
-
Kawagishi N, Satoh K, Akamatsu Y, et al. Long-term outcome after living donor liver transplantation for two cases of homozygous familial hypercholesterolemia from a heterozygous donor. J Atheroscler Thromb 2007: 14: 94–98.
-
(2007)
J Atheroscler Thromb
, vol.14
, pp. 94-98
-
-
Kawagishi, N.1
Satoh, K.2
Akamatsu, Y.3
-
115
-
-
84865837145
-
Translational lessons from a case of combined heart and liver transplantation for familial hypercholesterolemia 20 years post-operatively
-
Ibrahim M, El-Hamamsy I, Barbir M, Yacoub MH. Translational lessons from a case of combined heart and liver transplantation for familial hypercholesterolemia 20 years post-operatively. J Cardiovasc Transl Res 2012: 5: 351–358.
-
(2012)
J Cardiovasc Transl Res
, vol.5
, pp. 351-358
-
-
Ibrahim, M.1
El-Hamamsy, I.2
Barbir, M.3
Yacoub, M.H.4
-
116
-
-
21844444776
-
Liver transplant combined with heart transplant in severe heterozygous hypercholesterolemia: Report of the first case and review of the literature
-
Alkofer BJ, Chiche L, Khayat A, et al. Liver transplant combined with heart transplant in severe heterozygous hypercholesterolemia: Report of the first case and review of the literature. Transplant Proc 2005: 37: 2250–2252.
-
(2005)
Transplant Proc
, vol.37
, pp. 2250-2252
-
-
Alkofer, B.J.1
Chiche, L.2
Khayat, A.3
-
117
-
-
84897571890
-
Liver transplantation for pediatric metabolic disease
-
Mazariegos G, Shneider B, Burton B, et al. Liver transplantation for pediatric metabolic disease. Mol Genet Metab 2014: 111: 418–427.
-
(2014)
Mol Genet Metab
, vol.111
, pp. 418-427
-
-
Mazariegos, G.1
Shneider, B.2
Burton, B.3
-
118
-
-
84983413207
-
Propionic acidemia. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online)
-
Copyright, University of Washington, Seattle
-
Carrillo-Carrasco N, Venditti C. Propionic acidemia. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997–2013. Available at http://www.genetests.org.
-
(1997)
-
-
Carrillo-Carrasco, N.1
Venditti, C.2
-
119
-
-
84983446932
-
(Updated 2016 Jan 7). Methylmalonic acidemia. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online)
-
Copyright, University of Washington, Seattle
-
Manoli I, Sloan JL, Venditti CP. (Updated 2016 Jan 7). Methylmalonic acidemia. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997–2013. Available at http://www.genetests.org.
-
(1997)
-
-
Manoli, I.1
Sloan, J.L.2
Venditti, C.P.3
-
120
-
-
36849006432
-
Combined liver-kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature
-
Mc Guire PJ, Lim-Melia E, Diaz GA, et al. Combined liver-kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature. Mol Genet Metab 2008: 93: 22–29.
-
(2008)
Mol Genet Metab
, vol.93
, pp. 22-29
-
-
Mc Guire, P.J.1
Lim-Melia, E.2
Diaz, G.A.3
-
121
-
-
72049099057
-
Cardiomyopathies in propionic aciduria are reversible after liver transplantation
-
Romano S, Valayannopoulos V, Touati G, et al. Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr 2010: 156: 128–134.
-
(2010)
J Pediatr
, vol.156
, pp. 128-134
-
-
Romano, S.1
Valayannopoulos, V.2
Touati, G.3
-
122
-
-
33749539646
-
Evaluation and management of patients with propionic acidemia undergoing liver transplantation: A comprehensive review
-
Barshes NR, Vanatta JM, Patel AJ, et al. Evaluation and management of patients with propionic acidemia undergoing liver transplantation: A comprehensive review. Pediatr Transplant 2006: 10: 773–781.
-
(2006)
Pediatr Transplant
, vol.10
, pp. 773-781
-
-
Barshes, N.R.1
Vanatta, J.M.2
Patel, A.J.3
-
123
-
-
84861532356
-
Acute life-threatening arrhythmias caused by severe hyperkalemia after induction of anesthesia in an infant with methylmalonic acidemia
-
Chao PW, Chang WK, Lai IW, Liu C, Chan KH, Tsao CM. Acute life-threatening arrhythmias caused by severe hyperkalemia after induction of anesthesia in an infant with methylmalonic acidemia. J Chin Med Assoc 2012: 75: 243–245.
-
(2012)
J Chin Med Assoc
, vol.75
, pp. 243-245
-
-
Chao, P.W.1
Chang, W.K.2
Lai, I.W.3
Liu, C.4
Chan, K.H.5
Tsao, C.M.6
-
124
-
-
19944385971
-
Management of methylmalonic acidaemia by combined liver-kidney transplantation
-
Nagarajan S, Enns GM, Millan MT, Winter S, Sarwal MM. Management of methylmalonic acidaemia by combined liver-kidney transplantation. J Inherit Metab Dis 2005: 28: 517–524.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 517-524
-
-
Nagarajan, S.1
Enns, G.M.2
Millan, M.T.3
Winter, S.4
Sarwal, M.M.5
-
125
-
-
80053197801
-
Preoperative dialysis for liver transplantation in methylmalonic acidemia
-
Kamei K, Ito S, Shigeta T, et al. Preoperative dialysis for liver transplantation in methylmalonic acidemia. Ther Apher Dial 2011: 15: 488–492.
-
(2011)
Ther Apher Dial
, vol.15
, pp. 488-492
-
-
Kamei, K.1
Ito, S.2
Shigeta, T.3
-
126
-
-
0032747744
-
Liver transplantation in propionic acidaemia
-
Saudubray JM, Touati G, Delonlay P, et al. Liver transplantation in propionic acidaemia. Eur J Pediatr 1999: 158(Suppl 2): S65–S69.
-
(1999)
Eur J Pediatr
, vol.158
, pp. S65-S69
-
-
Saudubray, J.M.1
Touati, G.2
Delonlay, P.3
-
127
-
-
77950680261
-
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation
-
Chen PW, Hwu WL, Ho MC, et al. Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation. Pediatr Transplant 2010: 14: 337–341.
-
(2010)
Pediatr Transplant
, vol.14
, pp. 337-341
-
-
Chen, P.W.1
Hwu, W.L.2
Ho, M.C.3
-
128
-
-
33750600921
-
Current role of liver transplantation for methylmalonic acidemia: A review of the literature
-
Kasahara M, Horikawa R, Tagawa M, et al. Current role of liver transplantation for methylmalonic acidemia: A review of the literature. Pediatr Transplant 2006: 10: 943–947.
-
(2006)
Pediatr Transplant
, vol.10
, pp. 943-947
-
-
Kasahara, M.1
Horikawa, R.2
Tagawa, M.3
-
130
-
-
84865193829
-
Treatment for mitochondrial disorders
-
CD004426
-
Pfeffer G, Majamaa K, Turnbull DM, Thorburn D, Chinnery PF. Treatment for mitochondrial disorders. Cochrane Database Syst Rev 2012: 4: CD004426.
-
(2012)
Cochrane Database Syst Rev
, vol.4
-
-
Pfeffer, G.1
Majamaa, K.2
Turnbull, D.M.3
Thorburn, D.4
Chinnery, P.F.5
-
131
-
-
84897355860
-
Treatment of mitochondrial disorders
-
Avula S, Parikh S, Demarest S, Kurz J, Gropman A. Treatment of mitochondrial disorders. Curr Treat Options Neurol 2014: 16: 292.
-
(2014)
Curr Treat Options Neurol
, vol.16
, pp. 292
-
-
Avula, S.1
Parikh, S.2
Demarest, S.3
Kurz, J.4
Gropman, A.5
-
132
-
-
84884669004
-
Mitochondrial hepatopathies: Advances in genetics, therapeutic approaches, and outcomes
-
Lee WS, Sokol RJ. Mitochondrial hepatopathies: Advances in genetics, therapeutic approaches, and outcomes. J Pediatr 2013: 163: 942–948.
-
(2013)
J Pediatr
, vol.163
, pp. 942-948
-
-
Lee, W.S.1
Sokol, R.J.2
-
133
-
-
0030817294
-
Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation
-
Cormier-Daire V, Chretien D, Rustin P, et al. Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation. J Pediatr 1997: 130: 817–822.
-
(1997)
J Pediatr
, vol.130
, pp. 817-822
-
-
Cormier-Daire, V.1
Chretien, D.2
Rustin, P.3
-
134
-
-
57849144280
-
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency
-
Dimmock DP, Dunn JK, Feigenbaum A, et al. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. Liver Transpl 2008: 14: 1480–1485.
-
(2008)
Liver Transpl
, vol.14
, pp. 1480-1485
-
-
Dimmock, D.P.1
Dunn, J.K.2
Feigenbaum, A.3
-
135
-
-
0032722918
-
Liver transplantation in mitochondrial respiratory chain disorders
-
Sokal EM, Sokol R, Cormier V, et al. Liver transplantation in mitochondrial respiratory chain disorders. Eur J Pediatr 1999: 158(Suppl 2): S81–S84.
-
(1999)
Eur J Pediatr
, vol.158
, pp. S81-S84
-
-
Sokal, E.M.1
Sokol, R.2
Cormier, V.3
-
136
-
-
84881559327
-
Anesthetic considerations in patients with mitochondrial defects
-
Niezgoda J, Morgan PG. Anesthetic considerations in patients with mitochondrial defects. Paediatr Anaesth 2013: 23: 785–793.
-
(2013)
Paediatr Anaesth
, vol.23
, pp. 785-793
-
-
Niezgoda, J.1
Morgan, P.G.2
-
137
-
-
70350136445
-
A modern approach to the treatment of mitochondrial disease
-
Parikh S, Saneto R, Falk MJ, et al. A modern approach to the treatment of mitochondrial disease. Curr Treat Options Neurol 2009: 11: 414–430.
-
(2009)
Curr Treat Options Neurol
, vol.11
, pp. 414-430
-
-
Parikh, S.1
Saneto, R.2
Falk, M.J.3
-
138
-
-
84925878803
-
Heterozygote to homozygote related living donor liver transplantation in maple syrup urine disease: A case report
-
Patel N, Loveland J, Zuckerman M, Moshesh P, Britz R, Botha J. Heterozygote to homozygote related living donor liver transplantation in maple syrup urine disease: A case report. Pediatr Transplant 2015: 19: E62–E65.
-
(2015)
Pediatr Transplant
, vol.19
, pp. E62-E65
-
-
Patel, N.1
Loveland, J.2
Zuckerman, M.3
Moshesh, P.4
Britz, R.5
Botha, J.6
-
139
-
-
84901684429
-
Successful domino liver transplantation in maple syrup urine disease using a related living donor
-
Feier FH, Miura IK, Fonseca EA, et al. Successful domino liver transplantation in maple syrup urine disease using a related living donor. Braz J Med Biol Res 2014: 47: 522–526.
-
(2014)
Braz J Med Biol Res
, vol.47
, pp. 522-526
-
-
Feier, F.H.1
Miura, I.K.2
Fonseca, E.A.3
-
140
-
-
84925871332
-
Living donor liver transplantation from a heterozygous parent for classical maple syrup urine disease
-
Kadohisa M, Matsumoto S, Sawada H, et al. Living donor liver transplantation from a heterozygous parent for classical maple syrup urine disease. Pediatr Transplant 2015: 19: E66–E69.
-
(2015)
Pediatr Transplant
, vol.19
, pp. E66-E69
-
-
Kadohisa, M.1
Matsumoto, S.2
Sawada, H.3
-
141
-
-
77953834417
-
Anesthetic implications of ornithine transcarbamylase deficiency
-
Dutoit AP, Flick RR, Sprung J, Babovic-Vuksanovic D, Weingarten TN. Anesthetic implications of ornithine transcarbamylase deficiency. Paediatr Anaesth 2010: 20: 666–673.
-
(2010)
Paediatr Anaesth
, vol.20
, pp. 666-673
-
-
Dutoit, A.P.1
Flick, R.R.2
Sprung, J.3
Babovic-Vuksanovic, D.4
Weingarten, T.N.5
-
142
-
-
2842552378
-
Anesthetic management of a patient with ornithine transcarbamylase deficiency
-
Iida R, Nagai H, Iwasaki K, et al. Anesthetic management of a patient with ornithine transcarbamylase deficiency. Masui 1996: 45: 642–645.
-
(1996)
Masui
, vol.45
, pp. 642-645
-
-
Iida, R.1
Nagai, H.2
Iwasaki, K.3
-
143
-
-
33645307680
-
Anesthetic management of patients with ornithine transcarbamylase deficiency
-
Schmidt J, Kroeber S, Irouschek A, Birkholz T, Schroth M, Albrecht S. Anesthetic management of patients with ornithine transcarbamylase deficiency. Paediatr Anaesth 2006: 16: 333–337.
-
(2006)
Paediatr Anaesth
, vol.16
, pp. 333-337
-
-
Schmidt, J.1
Kroeber, S.2
Irouschek, A.3
Birkholz, T.4
Schroth, M.5
Albrecht, S.6
-
144
-
-
84878177370
-
General anesthesia in an adult female with propionic acidemia: Anesthetic considerations
-
Arcas-Bellas JJ, Arevalo-Ludena J, Onate ML, Aranzubia M, Alvarez-Rementeria R, Munoz-Alameda L. General anesthesia in an adult female with propionic acidemia: Anesthetic considerations. Minerva Anestesiol 2013: 79: 313–315.
-
(2013)
Minerva Anestesiol
, vol.79
, pp. 313-315
-
-
Arcas-Bellas, J.J.1
Arevalo-Ludena, J.2
Onate, M.L.3
Aranzubia, M.4
Alvarez-Rementeria, R.5
Munoz-Alameda, L.6
-
145
-
-
0033854028
-
Propionic acidemia in a four-month-old male: A case study and anesthetic implications
-
Harker HE, Emhardt JD, Hainline BE. Propionic acidemia in a four-month-old male: A case study and anesthetic implications. Anesth Analg 2000: 91: 309–311.
-
(2000)
Anesth Analg
, vol.91
, pp. 309-311
-
-
Harker, H.E.1
Emhardt, J.D.2
Hainline, B.E.3
-
146
-
-
33751023989
-
Anesthetic management of a 2-year-old male with propionic acidemia
-
Karagoz AH, Uzumcugil F, Celebi N, Canbay O, Ozgen S. Anesthetic management of a 2-year-old male with propionic acidemia. Paediatr Anaesth 2006: 16: 1290–1291.
-
(2006)
Paediatr Anaesth
, vol.16
, pp. 1290-1291
-
-
Karagoz, A.H.1
Uzumcugil, F.2
Celebi, N.3
Canbay, O.4
Ozgen, S.5
-
147
-
-
79951476627
-
Sevoflurane in anaesthetic management of a patient with methylmalonic acidaemia
-
Ozturk L, Kesimci E, Albayrak T, Kanbak O. Sevoflurane in anaesthetic management of a patient with methylmalonic acidaemia. Eur J Anaesthesiol 2011: 28: 143–145.
-
(2011)
Eur J Anaesthesiol
, vol.28
, pp. 143-145
-
-
Ozturk, L.1
Kesimci, E.2
Albayrak, T.3
Kanbak, O.4
-
148
-
-
27144500727
-
Infant boy with propionic acidemia: Anesthetic implications
-
Sanchez-Rodenas L, Hernandez-Palazon J, Burguillos-Lopez S, Sanchez-Ortega JL, Castano-Collado I, Garcia-Ferreira J. Infant boy with propionic acidemia: Anesthetic implications. Rev Esp Anestesiol Reanim 2005: 52: 429–432.
-
(2005)
Rev Esp Anestesiol Reanim
, vol.52
, pp. 429-432
-
-
Sanchez-Rodenas, L.1
Hernandez-Palazon, J.2
Burguillos-Lopez, S.3
Sanchez-Ortega, J.L.4
Castano-Collado, I.5
Garcia-Ferreira, J.6
-
149
-
-
0031712940
-
Lipid content and fatty acid composition in foods commonly consumed by nursing Congolese women: Incidences on their essential fatty acid intakes and breast milk fatty acids
-
Rocquelin G, Tapsoba S, Mbemba F, Gallon G, Picq C. Lipid content and fatty acid composition in foods commonly consumed by nursing Congolese women: Incidences on their essential fatty acid intakes and breast milk fatty acids. Int J Food Sci Nutr 1998: 49: 343–352.
-
(1998)
Int J Food Sci Nutr
, vol.49
, pp. 343-352
-
-
Rocquelin, G.1
Tapsoba, S.2
Mbemba, F.3
Gallon, G.4
Picq, C.5
-
150
-
-
77952926522
-
Drug management in emergent liver transplantation of mitochondrial disorder carriers: Review of the literature
-
Vater Y, Dembo G, Martay K, Klein Y, Vitin A, Weinbroum AA. Drug management in emergent liver transplantation of mitochondrial disorder carriers: Review of the literature. Clin Transplant 2010: 24: E43–E53.
-
(2010)
Clin Transplant
, vol.24
, pp. E43-E53
-
-
Vater, Y.1
Dembo, G.2
Martay, K.3
Klein, Y.4
Vitin, A.5
Weinbroum, A.A.6
|