PhaneufD, LabelleY, BerubeD, Cloning and expression of the cDNA endocoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignments of the gene to chromosome 15. Am J Hum Genet1991;48:525–535.
7.
RootweltH, HoieK, BergerR, KvittingenEA. Fumarylace-toacetate mutations in tyrosinemia type 1. Hum Mutat1996;7:239–243.
8.
LindstedtS, HolmeE, LockE, HjalmarsonO, StrandvikB.Treatment of hereditary tyrosinemia type 1 by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet1992;340: 813–817.
9.
KvittingenEA, RootweltH, BrantzaegD, BerganA, BergerR.Self-induced correction of the hereditary tyrosinemia type 1 fumarylacetoacetase defect in tyrosinemia type 1. J Clin Invest1993;91:1816–1821.
10.
ParadisK, WeberA, SeidmanEG, Liver transplantation for hereditary tyrosinemia: the Quebec experience. Am J Hum Genet1990;47:338–342.
11.
BruneauN, St-VilD, LuksFI, LaBergeJM, BensoussanAL, BlanchardH.Surgical and metabolic aspects of liver transplantation for tyrosinemia. Ann Chir1993;47:803–809 (in French).
12.
MielesLA, EsquivelCO, Van ThielDH, Liver transplantation for tyrosinemia. A review of 10 cases from the University of Pittsburgh. Digest Dis Sci1990;35:153–157.
13.
LaineJ, SaloMK, KrogerusL, KarkainenJ, WahlroosO, HolmbergC.The nephropathy of type 1 tyrosinemia after liver transplantation. Pediatr Res1995;37:640–645.
14.
ShoemakerLR, StrifeCF, BalistreriWF, RyckmanFC. Rapid improvement in the renal tubular dysfunction associated with tyrosinemia following hepatic replacement. Pediatrics1992;89:251–255.
15.
TuchmanM, FreeseDK, SharpHL, RamnaraineML, AscherN, BloomerJR. Contribution of extrahepatic tissues to biochemical abnormalities in hereditary tyrosinemia type 1: study of those patients after liver transplantation. J Pediatr1987;110:399–403.
16.
ParadisK.Tyrosinemia: the Quebec experience. Clin Invest Med1996;19:311–316.
SharpHL, BridgesRA, KrivitW, FreierEF. Cirrhosis associated with α-1-antitrypsin deficiency: a previously unrecognized inherited disorder. J Lab Clin Med1969;73:934–939.
19.
SvegerT.Liver disease in α-1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med1976;294:1316–1321.
20.
SvegerT.The natural history of liver disease in α-1-antitrypsin deficient children. Acta Pediatr Scand1988;77:847–851.
21.
WuY, WhitmanI, MolmentiE, MooreK, HippenmeyerP, PerlmutterDH. Lag in intracellular degradation of mutant α-1-antitrypsin correlates with the liver disease phenotype in homozygous PIZZ α-1-antitrypsin deficiency. Proc Natl Acad Sci USA1994;91:901–904.
22.
FilipponiF, SoubraneO, LabrousseF, Liver transplantation for end-stage liver disease associated with alpha-1-antitrypsin deficiency in children: pretransplant natural history, timing and results of transplantation. J Hepatol1994;20:72–78.
23.
HoodJM, KoepL, PetersRF, Liver transplantation for advanced liver disease with α-1-antitrypsin deficiency. N Engl J Med1980;302:272–276.
24.
PerlmutterDH. The cellular basis for liver injury in α-1-antitrypsin deficiency. Hepatology1991;13:172–185.
25.
PerlmutterDH, MayLT, SehgalPB. Interferon B2/interleukin-6 modulates synthesis of α-1-antitrypsin in human mononuclear phagocytes and in human hepatoma cells. J Clin Invest1989;84:138–144.
26.
WewersM, CasolaroA, SellersSL, Replacement therapy for α-1-antitrypsin deficiency associated with emphysema. N Engl J Med1987;316:1055–1062.
27.
CrystalRG. Alpha-1-antitrypsin deficiency, emphysema and liver disease. Genetic basis and strategies for therapy. J Clin Invest1990;85:1343–1352.
28.
Maier-DobersbergerT, MannhalterC, RackS, Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysis. Gastroenterology1995;109:2005–2008.
29.
BellaryS, HassaneinT, van ThielDH. Liver transplantation in Wilson's disease. J Hepatol1995;23:373–381.
30.
SongHS, KuWC, ChenCL. Disappearance of Kayser-Fleischer rings following liver transplantation. Transplant Proc1992;24:1483–1485.
31.
SchilskyML, ScheinbergIH, SternliebI.Liver transplantation for Wilson's disease: indications and outcome. Hepatology1994;19:583–587.
32.
PortmannB, MowatAP. Copper-associated liver disease in childhood. J Hepatol1995;23:538–543.
33.
AdamsonM, ReinerB, OlsonJL, Indian childhood cirrhosis in an American child. Gastroenterology1992;102:1771–1777.
34.
HahnSH, TannerMS, DanksDM, GahlMA. Normal metallothionein synthesis in fibroblasts obtained from children with Indian childhood cirrhosis or copper-associated childhood cirrhosis. Biochem Molec Med1995; 54:142–145.
35.
KniselyAS, MagidMS, DischeMR, CutzE.Neonatal hemochromatosis. Birth Defects Orig Art Ser1987;23:75–102.
EgawaH, BerquistW, Garcia-KennedyR, CoxK, KniselyAS, EsquivelCO. Rapid development of hepatocellular siderosis after liver transplantation for neonatal hemochromatosis. Transplantation1996;62:1511–1513.
JazwinskaEC, PowelLW. Hemochromatosis and HLA-H; definite. Hepatology1997;24:495–496.
45.
DeugnierY, TurlinB, le QuilleucD, A reappraisal of hepatic siderosis in patents with end stage cirrhosis. Practical implications for the diagnosis of hemochromatosis. Am J Surg Pathol1997;21:669–675.
46.
ThonVJ, KhalilM, CannonJF. Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast. J Biol Chem1993;268:7509–7513.
47.
McConkie-RosellA, WilsonC, PicolliDA, Clinical and laboratory findings in four patients with the nonprogressive hepatic form of type IV glycogen storage disease. J Inherit Metab Dis1996;19:51–58.
48.
BaoY, KishnaniP, WuT-Y, ChenYT. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest1996;97:941–948.
49.
SelbyR, StarzlTE, YunisE, Liver transplantation for type IV glycogen storage disease. N Engl J Med1991;324:39–42.
50.
StarzlTE, DemetrisAJ, TruccoM, Chimerism after liver transplantation for type IV glycogen storage disease and type I Gaucher's disease. N Engl J Med1993;328:745–749.
51.
SokalEM, Van HoofF, AlbertiD, de Ville deGoyet J, de BarsyT, OtteJB. Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis. Eur J Pediatr1992;151:200–203.
52.
PurduePE, LumbMJ, AllsopJ, DanpureCD. An intronic duplication in the alamine:glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygous patients with primary hyperoxaluria type 1. Hum Genet1991;87:394–396.
53.
KlauwersJ, WolfPL, CohnR.Renal transplantation in primary oxalosis. JAMA1969;209:551.
54.
WattsRW, CalneRY, WilliamsR, Primary hyperoxaluria (type I): attempted treatment by combined hepatic and renal transplantation. Q J Med1985;57:697–703.
55.
LattaK, BrodehlJ.Primary hyperoxaluria type I. Eur J Pediatr1990;149:518–522.
56.
WattsRW, DanpureCJ, DePauwL.Combined liver-kidney and isolated liver transplantation for primary hyperoxaluria type I. The European experience. The European Study Group on Transplantation in Hyperoxaluria Type I. Nephrol Dial Transplant1991;6:502–511.
57.
CochatP, ScharerK.Should liver transplantation be performed before advanced renal insufficiency in primary hyperoxaluria type I. Pediatr Nephrol1993;7:212–218; discussion, 218–219.
HoneycuttD, CallahanK, RutledgeL, EvansB.Heterozygote ornithine transcarbamylase deficiency presenting as symptomatic hyperammonemia during initiation of valproate therapy. Neurology1992;42:666–668.
60.
BatshawML. Inborn errors of urea synthesis. Ann Neurol1994;35:133–141.
61.
HasegawaT, TzakisAG, TodoS, Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy. J Pediatr Surg1995;30:863–865.
62.
HoshideR, SoejimaH, OhtaT, Assignment of the human carbamylphosphate synthetase 1 gene (CPS1) to 2q35 by fluorescence in situ hybridization. Genomics1995;28:124–125.
63.
JanD, LaurentJ, LacailleF, Liver transplantation in children with inherited metabolic disorders. Transplant Proc1995;27:1706–1707.
64.
HoegJN, StarzlTE, BrewerHBJr.Liver transplantation for treatment of cardiovascular disease: comparison with medication and plasma exchange in homozygous familial hypercholesterolemia. Am J Cardiol1987;59:705–707.
65.
ValdivielsoP, EscolarJL, Cuervas-MonsV, PulponLA, ChaparroMA, Gonzalez-SantosP.Lipids and lipoprotein changes after heart and liver transplantation in a patient with homozygous familial hypercholesterolemia. Ann Int Med1988;108:204–206.
66.
BilheimerDW. Portacaval shunt and liver transplantation in treatment of familial hypercholesterolemia. Arteriosclerosis1989;9: Suppl 1, I:158–163.
67.
EastC, GrundySM, BilheimerDW. Normal cholesterol levels with lovastatin (Mevinolin) therapy in a child with homozygous familial hypercholesterolemia following liver transplantation. JAMA1986;256:2843–2848.
68.
SokalEM, UllaL, HarvengtC, OtteJB. Liver transplantation for familial hypercholesterolemia before the onset of cardiovascular complications. Transplantation1993;55:432–433.
69.
KraftHG, MenzelHJ, HoppichlerF, VogelW, UtermannG.Changes of genetic apolipoprotein phenotypes caused by liver transplantation. Implications for apolipoprotein synthesis. J Clin Invest1989;83:137–142.
70.
LintonMF, GishR, HublST, Phenotypes of apolipo-protein B and apolipoprotein E after liver transplantation. J Clin Invest1991;88:270–281.
71.
BontempoFA, LewisJH, GorencTJ, Liver transplantation in hemophilia A. Blood1987;69:1721–1724.
72.
StringerMD, MelissariE, KakkerVV, TanKC. Protein C deficiency and thrombotic complications after liver transplantation in children. Lancet1989;1:102–103.
73.
CarlsonDE, BusuttilRW, GiudiciTA, BarrangerJA. Ortho-topic liver transplantation in the treatment of complications of type I Gaucher disease. Transplantation1990;49:1192–1194.
74.
SmanikEJ, TavillAS, JacobsGH, Orthotopic liver transplantation in two adults with Niemann-Pick and Gaucher's diseases: implications for the treatment of inherited metabolic disease. Hepatology1993;17:42–49.
75.
CarsteaED, MorrisJA, ColemanKG. Niemann-Pick C1 disease gene. Homology to mediators of cholesterol homeostasis. Science1997;277:228–231.
76.
GartnerJC, BergmanI, MalatackJJ, Progressive neurovisceral storage disease with supranuclear ophthalmoplegia following orthotopic liver transplantation. Pediatrics1986;77:104–106.
77.
DuCerfC, BancelB, CaillonP, Orthotopic liver transplantation for type I Gaucher's disease. Transplantation1992;53:1141–1143.
78.
JonasAJ, SmithML, SchneiderIA. ATP-dependent lysosomal cystine reflux is defective in cystinosis. J Biol Chem1982;257:13185–13188.
79.
KlennPJ, RubinR.Hepatic fibrosis associated with hereditary cystinosis: a novel from of noncirrhotic portal hypertension. Mod Pathol1994;7:879–882.
80.
AvnerED, EllisD, JaffeR.Veno-occlusive disease of the liver associated with cysteamine treatment of nephropathic cystinosis. J Pediatr1983;102:793–796.
81.
MortonKO, SchneiderF, WeimerMK, StrakaJG, BloomerJR. Hepatic and bile porphyria in patients with protoporphyria and liver failure. Gastroenterology1988;94:1488–1492.
SamuelD, BobocB, BernuauJ, BismithH, BenhamouJP. Liver transplantation for protoporphyria. Evidence for the predominant role of the erythropoietic tissue in protoporphyria overproduction. Gastroenterology1988;95:816–819.
84.
MionFB, FaureJL, BergerF, McGregorB, PerrotH, PaliardP.Liver transplantation for erythropoietic protoporphyria. Report of a new case with subsequent medium-term followup. J Hepatol1992;16:203–207.
85.
PolsonRJ, LunnCK, RollesK, CalneRY, WilliamsR.The effect of liver transplantation in a 13-year-old boy with erythropoietic protoporphyria. Transplantation1988;46:386–389.
86.
SteinmullerT, DossMO, SteffenR, Liver transplantation in erythropoietic protoporphyria. Deutch Mediz Wochenschr1991;177:1097–1102 (in German).
87.
De TorresI, DemetrisAJ, RandhawaPS. Recurrent hepatic allograft injury in erythropoietic protoporphyria. Transplantation1996;61:1412–1413.
88.
StarzlTE, DemetrisAJ. Transplantation milestones viewed with one and two-way paradigms of tolerance. JAMA1995;273:876–879.
89.
CransacM, CarlesJ, BernardPH, Heterozygous protein C deficiency and dysfibrinogenemia acquired by liver transplantation. Transplant Int1995;8:307–311.
90.
MonaghanG, RyanM, SeddonR, HumeR, BurchellB.Genetic variation in bilirubin UDP-gluconosyltransferase gene promoter and Gilbert's syndrome. Lancet1996;347:578–581.
91.
BosmaPJ, ChowdryJR, BakkerC, The genetic basis of the reduced expression of bilirubin UDP-glucosyltransferase 1 in Gilbert's syndrome. N Engl J Med1995;333:1171–1175.
92.
Henne-BrunsD, KremerB.Manifestation of Gilbert syndrome (Meulengracht disease) following orthotopic liver transplantation: a rare cause of postoperative hyperbilirubinemia. Klin Wochenschr1988;66:596–598 (in German).
93.
JansenPLM, BosmaPJ, BakkerC, LemsSPM, SloohMJH, HaagsmaEB. Persistent unconjugated hyperbilirubinemia after liver transplantation due to an abnormal bilirubin UDP-glucomonosyltransferase gene promotor sequence in the donor. J Hepatol1997;27:1–5.