-
1
-
-
0003224445
-
U ber ein der Hamochromatose vergleichbares Krankheitsbild bei Neugeborenen
-
Cottier H. U ber ein der Hamochromatose vergleichbares Krankheitsbild bei Neugeborenen. Schweiz Med Wochenschr 1957;87: 39-43.
-
(1957)
Schweiz Med Wochenschr
, vol.87
, pp. 39-43
-
-
Cottier, H.1
-
3
-
-
0023261222
-
Perinatal hemochromatosis: Clinical, morphologic, and quantitative iron studies
-
Silver MM, Beverley DW, Valberg LS, Cutz E, Phillips MJ, Shaheed WA. Perinatal hemochromatosis: clinical, morphologic, and quantitative iron studies. Am J Pathol 1987;128:538-554.
-
(1987)
Am J Pathol
, vol.128
, pp. 538-554
-
-
Silver, M.M.1
Beverley, D.W.2
Valberg, L.S.3
Cutz, E.4
Phillips, M.J.5
Shaheed, W.A.6
-
4
-
-
0024559526
-
Perinatal haemochromatosis: Entity or end result?
-
Witzleben CL, Uri A. Perinatal haemochromatosis: entity or end result? Hum Pathol 1989;20:335-340.
-
(1989)
Hum Pathol
, vol.20
, pp. 335-340
-
-
Witzleben, C.L.1
Uri, A.2
-
6
-
-
0025153697
-
Iron storage disease in parents and sibs of infants with neonatal hemochromatosis: 30-year follow-up
-
Dalhoj J, Kiaer H, Wiggers P, Grady RW, Jones RL, Knisely AS. Iron storage disease in parents and sibs of infants with neonatal hemochromatosis: 30-year follow-up. Am J Med Genet 1990;37: 342-345.
-
(1990)
Am J Med Genet
, vol.37
, pp. 342-345
-
-
Dalhoj, J.1
Kiaer, H.2
Wiggers, P.3
Grady, R.W.4
Jones, R.L.5
Knisely, A.S.6
-
7
-
-
0026699924
-
Neonatal hemochromatosis: Genetic counseling based on retrospective pathologic diagnosis
-
Ferrell L, Schmidt K, Packman S. Neonatal hemochromatosis: genetic counseling based on retrospective pathologic diagnosis. Am J Med Genet 1992;44:429-433.
-
(1992)
Am J Med Genet
, vol.44
, pp. 429-433
-
-
Ferrell, L.1
Schmidt, K.2
Packman, S.3
-
8
-
-
0027723516
-
Hepatic morphology and iron quantitation in perinatal hemochromatosis: Comparison with a large perinatal control population, including cases with chronic liver disease
-
Silver MM, Valberg LS, Cutz E, Lines LD, Phillips MJ. Hepatic morphology and iron quantitation in perinatal hemochromatosis: comparison with a large perinatal control population, including cases with chronic liver disease. Am J Pathol 1993;143:1312-1325.
-
(1993)
Am J Pathol
, vol.143
, pp. 1312-1325
-
-
Silver, M.M.1
Valberg, L.S.2
Cutz, E.3
Lines, L.D.4
Phillips, M.J.5
-
9
-
-
19144363612
-
Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers
-
Verloes A, Temple IK, Hubert AF, et al. Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers. J Med Genet 1996;33:444-449.
-
(1996)
J Med Genet
, vol.33
, pp. 444-449
-
-
Verloes, A.1
Temple, I.K.2
Hubert, A.F.3
-
10
-
-
0032926625
-
Familial perinatal hemochromatosis: A disease that causes recurrent non-immune hydrops
-
Kassem E, Dolfin T, Litmanowitz I, Regev R, Arnon S, Kidron D. Familial perinatal hemochromatosis: a disease that causes recurrent non-immune hydrops. J Perinat Med 1999;27:122-127.
-
(1999)
J Perinat Med
, vol.27
, pp. 122-127
-
-
Kassem, E.1
Dolfin, T.2
Litmanowitz, I.3
Regev, R.4
Arnon, S.5
Kidron, D.6
-
11
-
-
0034845503
-
Classification and genetic features of neonatal haemochromatosis: A study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism
-
Kelly AL, Lunt PW, Rodrigues F, et al. Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism. J Med Genet 2001;38:599-610.
-
(2001)
J Med Genet
, vol.38
, pp. 599-610
-
-
Kelly, A.L.1
Lunt, P.W.2
Rodrigues, F.3
-
14
-
-
21044458936
-
Pathology teach and tell: Neonatal hemochromatosis with massive hepatic necrosis
-
Goyal R, Pattari SK, Kakkar N, Radotra BD, Narang A. Pathology teach and tell: neonatal hemochromatosis with massive hepatic necrosis. Fetal Pediatr Pathol 2004;23:345-350.
-
(2004)
Fetal Pediatr Pathol
, vol.23
, pp. 345-350
-
-
Goyal, R.1
Pattari, S.K.2
Kakkar, N.3
Radotra, B.D.4
Narang, A.5
-
15
-
-
26244464038
-
Neonatal hemochromatosis: Fetal liver disease leading to liver failure in the fetus and newborn
-
Whitington PF, Kelly S, Ekong UD. Neonatal hemochromatosis: fetal liver disease leading to liver failure in the fetus and newborn. Pediatr Transplant 2005;9:640-645.
-
(2005)
Pediatr Transplant
, vol.9
, pp. 640-645
-
-
Whitington, P.F.1
Kelly, S.2
Ekong, U.D.3
-
16
-
-
33644668974
-
Disparate clinical presentation of neonatal hemochromatosis in twins
-
Ekong UD, Kelly S, Whitington PF. Disparate clinical presentation of neonatal hemochromatosis in twins. Pediatrics 2005;116:e880-e884.
-
(2005)
Pediatrics
, vol.116
-
-
Ekong, U.D.1
Kelly, S.2
Whitington, P.F.3
-
17
-
-
33646001712
-
Fetal and infantile hemochromatosis
-
Whitington PF. Fetal and infantile hemochromatosis. Hepatology 2006;43:654-660.
-
(2006)
Hepatology
, vol.43
, pp. 654-660
-
-
Whitington, P.F.1
-
19
-
-
77952266841
-
Neonatal liver failure: A genetic and metabolic perspective
-
Saenz MS, Van Hove J, Scharer G. Neonatal liver failure: a genetic and metabolic perspective. Curr Opin Pediatr 2010;22:241-245.
-
(2010)
Curr Opin Pediatr
, vol.22
, pp. 241-245
-
-
Saenz, M.S.1
Van Hove, J.2
Scharer, G.3
-
20
-
-
7644235252
-
High-dose immunoglobulin during pregnancy for recurrent neonatal haemochromatosis
-
Whitington PF, Hibbard JU. High-dose immunoglobulin during pregnancy for recurrent neonatal haemochromatosis. Lancet 2004; 364:1690-1698.
-
(2004)
Lancet
, vol.364
, pp. 1690-1698
-
-
Whitington, P.F.1
Hibbard, J.U.2
-
22
-
-
34548127283
-
Neonatal hemochromatosis: A congenital alloimmune hepatitis
-
Whitington PF. Neonatal hemochromatosis: a congenital alloimmune hepatitis. Semin Liver Dis 2007;27:243-250.
-
(2007)
Semin Liver Dis
, vol.27
, pp. 243-250
-
-
Whitington, P.F.1
-
23
-
-
0025313750
-
Neonatal hemochromatosis: Genetic analysis of transferrin-receptor, H-apoferritin, and L-apoferritin loci and of the human leukocyte antigen class i region
-
Hardy L, Hansen JL, Kushner JP, Knisely AS. Neonatal hemochromatosis: genetic analysis of transferrin-receptor, H-apoferritin, and L-apoferritin loci and of the human leukocyte antigen class I region. Am J Pathol 1990;137:149-153.
-
(1990)
Am J Pathol
, vol.137
, pp. 149-153
-
-
Hardy, L.1
Hansen, J.L.2
Kushner, J.P.3
Knisely, A.S.4
-
24
-
-
48949090831
-
Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin
-
Whitington PF, Kelly S. Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin. Pediatrics 2008;121:e1615-e1621.
-
(2008)
Pediatrics
, vol.121
-
-
Whitington, P.F.1
Kelly, S.2
-
25
-
-
34249735415
-
High-dose immunoglobulin during pregnancy for two patients with risk of recurrent neonatal haemochromatosis
-
Carrabin N, Cordier MP, Gaucherand P. High-dose immunoglobulin during pregnancy for two patients with risk of recurrent neonatal haemochromatosis. J Gyn Obst Biol Reprod 2007;36:409-412.
-
(2007)
J Gyn Obst Biol Reprod
, vol.36
, pp. 409-412
-
-
Carrabin, N.1
Cordier, M.P.2
Gaucherand, P.3
-
26
-
-
0142178203
-
Risks associated with the use of intravenous immunoglobulin
-
Pierce LR, Jain N. Risks associated with the use of intravenous immunoglobulin. Transfus Med Rev 2003;17:241-251.
-
(2003)
Transfus Med Rev
, vol.17
, pp. 241-251
-
-
Pierce, L.R.1
Jain, N.2
-
27
-
-
84862698524
-
Nouveaux concepts dans l'hemochromatose perinatale
-
Baruteau J, Heissat S, Collardeau-Frachon S, Debray D, Broue P, Guigonis V. Nouveaux concepts dans l'hemochromatose perinatale. Arch Pediatr 2012;19:755-761.
-
(2012)
Arch Pediatr
, vol.19
, pp. 755-761
-
-
Baruteau, J.1
Heissat, S.2
Collardeau-Frachon, S.3
Debray, D.4
Broue, P.5
Guigonis, V.6
-
29
-
-
0033252245
-
Diagnosis of neonatal hemochromatosis with MR imaging and duplex Doppler sonography
-
Oddone M, Bellini C, Bonacci W, Bartocci M, Toma P, Serra G. Diagnosis of neonatal hemochromatosis with MR imaging and duplex Doppler sonography. Eur Radiol 1999;9:1882-1885.
-
(1999)
Eur Radiol
, vol.9
, pp. 1882-1885
-
-
Oddone, M.1
Bellini, C.2
Bonacci, W.3
Bartocci, M.4
Toma, P.5
Serra, G.6
-
30
-
-
0842283228
-
Non-invasive assessment of hepatic iron stores by MRI
-
Gandon Y, Olivie D, Guyader D, et al. Non-invasive assessment of hepatic iron stores by MRI. Lancet 2004;363:357-362.
-
(2004)
Lancet
, vol.363
, pp. 357-362
-
-
Gandon, Y.1
Olivie, D.2
Guyader, D.3
-
31
-
-
0023701670
-
Oropharyngeal and upper respiratory tract mucosal-gland siderosis in neonatal hemochromatosis: An approach to biopsy diagnosis
-
Knisely AS, O'Shea PA, Stocks JF, Dimmick JE. Oropharyngeal and upper respiratory tract mucosal-gland siderosis in neonatal hemochromatosis: an approach to biopsy diagnosis. J Pediatr 1988;113:871-874.
-
(1988)
J Pediatr
, vol.113
, pp. 871-874
-
-
Knisely, A.S.1
O'shea, P.A.2
Stocks, J.F.3
Dimmick, J.E.4
-
32
-
-
2642562986
-
Minor salivary gland biopsy in neonatal hemochromatosis
-
Smith SR, Shneider BL, Magid M, Martin G, Rothschild M. Minor salivary gland biopsy in neonatal hemochromatosis. Arch Otolaryngol Head Neck Surg 2004;130:760-763.
-
(2004)
Arch Otolaryngol Head Neck Surg
, vol.130
, pp. 760-763
-
-
Smith, S.R.1
Shneider, B.L.2
Magid, M.3
Martin, G.4
Rothschild, M.5
-
33
-
-
45949083934
-
Labial salivary gland involvement in neonatal hemochromatosis: A report of 2 cases and review of literature
-
Chan KC, Edelman M, Fantasia JE. Labial salivary gland involvement in neonatal hemochromatosis: a report of 2 cases and review of literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2008;106:e27-e30.
-
(2008)
Oral Surg Oral Med Oral Pathol Oral Radiol Endod
, vol.106
-
-
Chan, K.C.1
Edelman, M.2
Fantasia, J.E.3
-
34
-
-
80053054140
-
Labial salivary gland biopsy in the investigation of neonatal hemochromatosis
-
Magliocca KR, Lewis EL, Bhattacharyya I, Cohen DM, Dixon LR. Labial salivary gland biopsy in the investigation of neonatal hemochromatosis. J Oral Maxillofac Surg 2011;69:2592-2594.
-
(2011)
J Oral Maxillofac Surg
, vol.69
, pp. 2592-2594
-
-
Magliocca, K.R.1
Lewis, E.L.2
Bhattacharyya, I.3
Cohen, D.M.4
Dixon, L.R.5
-
35
-
-
0028027312
-
Iron and pediatric liver disease
-
Knisely AS. Iron and pediatric liver disease. Semin Liver Dis 1994; 14:229-235.
-
(1994)
Semin Liver Dis
, vol.14
, pp. 229-235
-
-
Knisely, A.S.1
-
36
-
-
0032337559
-
Inborn errors of metabolism in infancy: A guide to diagnosis
-
Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics 1998;102:E69.
-
(1998)
Pediatrics
, vol.102
-
-
Burton, B.K.1
-
37
-
-
0034748825
-
Hepatic failure with neonatal tissue siderosis of hemochromatotic type in an infant presenting with meconium ileus: Case report and differential diagnosis of the perinatal iron storage disorders
-
discussion 11-13
-
Sergi C, Himbert U, Weinhardt F, et al. Hepatic failure with neonatal tissue siderosis of hemochromatotic type in an infant presenting with meconium ileus: case report and differential diagnosis of the perinatal iron storage disorders. Pathol Res Pract 2001;197:699-709; discussion 11-13.
-
(2001)
Pathol Res Pract
, vol.197
, pp. 699-709
-
-
Sergi, C.1
Himbert, U.2
Weinhardt, F.3
-
38
-
-
67449102985
-
Diagnosis and management of metabolic liver failure in children
-
Broue P, Baruteau J. Diagnosis and management of metabolic liver failure in children. Arch Pediatr 2009;16:640-642.
-
(2009)
Arch Pediatr
, vol.16
, pp. 640-642
-
-
Broue, P.1
Baruteau, J.2
-
39
-
-
79955595465
-
Neonatal liver failure: Aetiologies and management-state of the art
-
Shanmugam NP, Bansal S, Greenough A, Verma A, Dhawan A. Neonatal liver failure: aetiologies and management-state of the art. Eur J Pediatr 2011;170:573-581.
-
(2011)
Eur J Pediatr
, vol.170
, pp. 573-581
-
-
Shanmugam, N.P.1
Bansal, S.2
Greenough, A.3
Verma, A.4
Dhawan, A.5
-
40
-
-
0026803430
-
Cytomegalovirus infection, fetal liver disease, and neonatal hemochromatosis
-
Kershisnik MM, Knisely AS, Sun CC, Andrews JM, Wittwer CT. Cytomegalovirus infection, fetal liver disease, and neonatal hemochromatosis. Hum Pathol 1992;23:1075-1080.
-
(1992)
Hum Pathol
, vol.23
, pp. 1075-1080
-
-
Kershisnik, M.M.1
Knisely, A.S.2
Sun, C.C.3
Andrews, J.M.4
Wittwer, C.T.5
-
41
-
-
0024333656
-
Hepatic disease associated with intrauterine parvovirus B19 infection in a newborn premature infant
-
Metzman R, Anand A, DeGiulio PA, Knisely AS. Hepatic disease associated with intrauterine parvovirus B19 infection in a newborn premature infant. J Pediatr Gastroenterol Nutr 1989;9:112-114.
-
(1989)
J Pediatr Gastroenterol Nutr
, vol.9
, pp. 112-114
-
-
Metzman, R.1
Anand, A.2
Degiulio, P.A.3
Knisely, A.S.4
-
42
-
-
0028177674
-
Delta 4-3-oxosteroid 5 beta-reductase deficiency causing neonatal liver failure and hemochromatosis
-
Shneider BL, Setchell KD, Whitington PF, Neilson KA, Suchy FJ. Delta 4-3-oxosteroid 5 beta-reductase deficiency causing neonatal liver failure and hemochromatosis. J Pediatr 1994;124:234-238.
-
(1994)
J Pediatr
, vol.124
, pp. 234-238
-
-
Shneider, B.L.1
Setchell, K.D.2
Whitington, P.F.3
Neilson, K.A.4
Suchy, F.J.5
-
43
-
-
0028110456
-
Delta 4-3-oxosteroid 5 beta-reductase deficiency and neonatal hemochromatosis
-
Clayton PT. Delta 4-3-oxosteroid 5 beta-reductase deficiency and neonatal hemochromatosis. J Pediatr 1994;125:845-846.
-
(1994)
J Pediatr
, vol.125
, pp. 845-846
-
-
Clayton, P.T.1
-
44
-
-
0030766372
-
Abnormal bile acid metabolism and neonatal hemochromatosis: A subset with poor prognosis
-
Siafakas CG, Jonas MM, Perez-Atayde AR. Abnormal bile acid metabolism and neonatal hemochromatosis: a subset with poor prognosis. J Pediatr Gastroenterol Nutr 1997;25:321-326.
-
(1997)
J Pediatr Gastroenterol Nutr
, vol.25
, pp. 321-326
-
-
Siafakas, C.G.1
Jonas, M.M.2
Perez-Atayde, A.R.3
-
45
-
-
1642268005
-
SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: Evidence for primary genetic defect
-
Gonzales E, Cresteil D, Baussan C, Dabadie A, Gerhardt MF, Jacquemin E. SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect. J Hepatol 2004;40:716-718.
-
(2004)
J Hepatol
, vol.40
, pp. 716-718
-
-
Gonzales, E.1
Cresteil, D.2
Baussan, C.3
Dabadie, A.4
Gerhardt, M.F.5
Jacquemin, E.6
-
46
-
-
0035003094
-
Transaldolase deficiency: Liver cirrhosis associated with a new inborn error in the pentose phosphate pathway
-
Verhoeven NM, Huck JH, Roos B, et al. Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet 2001;68:1086-1092.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1086-1092
-
-
Verhoeven, N.M.1
Huck, J.H.2
Roos, B.3
-
47
-
-
33745069906
-
Transaldolase deficiency: A new cause of hydrops fetalis and neonatal multiorgan disease
-
Valayannopoulos V, Verhoeven NM, Mention K, et al. Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multiorgan disease. J Pediatr 2006;149:713-717.
-
(2006)
J Pediatr
, vol.149
, pp. 713-717
-
-
Valayannopoulos, V.1
Verhoeven, N.M.2
Mention, K.3
-
49
-
-
34250302680
-
Mitochondrial hepatopathies: Advances in genetics and pathogenesis
-
Lee WS, Sokol RJ. Mitochondrial hepatopathies: advances in genetics and pathogenesis. Hepatology 2007;45:1555-1565.
-
(2007)
Hepatology
, vol.45
, pp. 1555-1565
-
-
Lee, W.S.1
Sokol, R.J.2
-
50
-
-
21844449982
-
Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency
-
Labarthe F, Dobbelaere D, Devisme L, et al. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency. J Hepatol 2005;43:333-341.
-
(2005)
J Hepatol
, vol.43
, pp. 333-341
-
-
Labarthe, F.1
Dobbelaere, D.2
Devisme, L.3
-
51
-
-
38949188752
-
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
-
Dimmock DP, Zhang Q, Dionisi-Vici C, et al. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat 2008;29:330-331.
-
(2008)
Hum Mutat
, vol.29
, pp. 330-331
-
-
Dimmock, D.P.1
Zhang, Q.2
Dionisi-Vici, C.3
-
52
-
-
84873028004
-
Deoxyguanosine kinase (DGUOK) deficiency presenting as neonatal haemochromatosis
-
Hanchard N, Shchelochkov OA, Brundage E, Schmitt E, Li F,Wong LJ, Scaglia F. Deoxyguanosine kinase (DGUOK) deficiency presenting as neonatal haemochromatosis. Mol Genet Metab 2010;99:216-217.
-
(2010)
Mol Genet Metab
, vol.99
, pp. 216-217
-
-
Hanchard, N.1
Shchelochkov, O.A.2
Brundage, E.3
Schmitt, E.4
Li Fwong, L.J.5
Scaglia, F.6
-
53
-
-
79953701106
-
Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure
-
Pronicka E, Weglewska-Jurkiewicz A, Taybert J, et al. Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure. J Appl Genet 2011;52:61-66.
-
(2011)
J Appl Genet
, vol.52
, pp. 61-66
-
-
Pronicka, E.1
Weglewska-Jurkiewicz, A.2
Taybert, J.3
-
54
-
-
0025241018
-
Fetal liver disease may precede extrahepatic siderosis in neonatal hemochromatosis
-
Hoogstraten J, de Sa DJ, Knisely AS. Fetal liver disease may precede extrahepatic siderosis in neonatal hemochromatosis. Gastroenterology 1990;98:1699-1701.
-
(1990)
Gastroenterology
, vol.98
, pp. 1699-1701
-
-
Hoogstraten, J.1
De Sa, D.J.2
Knisely, A.S.3
-
55
-
-
77952734701
-
Novel mechanism of fetal hepatocyte injury in congenital alloimmune hepatitis involves the terminal complement cascade
-
Pan X, Kelly S, Melin-Aldana H, Malladi P, Whitington PF. Novel mechanism of fetal hepatocyte injury in congenital alloimmune hepatitis involves the terminal complement cascade. Hepatology 2010;51:2061-2068.
-
(2010)
Hepatology
, vol.51
, pp. 2061-2068
-
-
Pan, X.1
Kelly, S.2
Melin-Aldana, H.3
Malladi, P.4
Whitington, P.F.5
-
56
-
-
84861199885
-
Neonatal iron overload and tissue siderosis due to gestational alloimmune liver disease
-
Bonilla S, Prozialeck JD, Malladi P, et al. Neonatal iron overload and tissue siderosis due to gestational alloimmune liver disease. J Hepatol 2012;56:1351-1355.
-
(2012)
J Hepatol
, vol.56
, pp. 1351-1355
-
-
Bonilla, S.1
Prozialeck, J.D.2
Malladi, P.3
-
57
-
-
0026333929
-
Severe perinatal liver disease and Down syndrome: An apparent relationship
-
Ruchelli ED, Uri A, Dimmick JE, et al. Severe perinatal liver disease and Down syndrome: an apparent relationship. Hum Pathol 1991;22:1274-1280.
-
(1991)
Hum Pathol
, vol.22
, pp. 1274-1280
-
-
Ruchelli, E.D.1
Uri, A.2
Dimmick, J.E.3
-
59
-
-
78049365528
-
Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21: A case report
-
Neil E, Cortez J, Joshi A, et al. Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21: a case report. Ital J Pediatr 2010;18:36-38.
-
(2010)
Ital J Pediatr
, vol.18
, pp. 36-38
-
-
Neil, E.1
Cortez, J.2
Joshi, A.3
-
60
-
-
0347670287
-
Congenital generalized infantile myofibromatosis and neonatal hemochromatosis: An autopsy case report
-
Aksoy F, Goksel S, Ilvan S, Dervisog?lu S, Ramazanog?lu R. Congenital generalized infantile myofibromatosis and neonatal hemochromatosis: an autopsy case report. Turk J Pediatr 2000;42:334-337.
-
(2000)
Turk J Pediatr
, vol.42
, pp. 334-337
-
-
Aksoy, F.1
Goksel, S.2
Ilvan, S.3
Dervisoglu, S.4
Ramazanoglu, R.5
-
61
-
-
34548851944
-
Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome
-
Pine SR, Guo Q, Yin C, Jayabose S, Druschel CM, Sandoval C. Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome. Blood 2007;110:2128-2131.
-
(2007)
Blood
, vol.110
, pp. 2128-2131
-
-
Pine, S.R.1
Guo, Q.2
Yin, C.3
Jayabose, S.4
Druschel, C.M.5
Sandoval, C.6
-
62
-
-
34247489332
-
Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome
-
De Vita S, Mulligan C, McElwaine S, et al. Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome. Br J Haematol 2007;137:337-341.
-
(2007)
Br J Haematol
, vol.137
, pp. 337-341
-
-
De Vita, S.1
Mulligan, C.2
McElwaine, S.3
-
63
-
-
0028351940
-
Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease
-
Bale PM, Kan AE, Dorney SF. Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease. Pediatr Pathol 1994;14:479-489.
-
(1994)
Pediatr Pathol
, vol.14
, pp. 479-489
-
-
Bale, P.M.1
Kan, A.E.2
Dorney, S.F.3
-
64
-
-
0032149378
-
Neonatal hemochromatosis, renal tubular dysgenesis, and hypocalvaria in a neonate
-
Johal JS, Thorp JW, Oyer CE. Neonatal hemochromatosis, renal tubular dysgenesis, and hypocalvaria in a neonate. Pediatr Dev Pathol 1998;1:433-437.
-
(1998)
Pediatr Dev Pathol
, vol.1
, pp. 433-437
-
-
Johal, J.S.1
Thorp, J.W.2
Oyer, C.E.3
-
65
-
-
1542300102
-
Renal tubular dysgenesis and neonatal hemochromatosis without pulmonary hypoplasia
-
Morris S, Akima S, Dahlstrom JE, Ellwood D, Kent A, Falk MC. Renal tubular dysgenesis and neonatal hemochromatosis without pulmonary hypoplasia. Pediatr Nephrol 2004;19:341-344.
-
(2004)
Pediatr Nephrol
, vol.19
, pp. 341-344
-
-
Morris, S.1
Akima, S.2
Dahlstrom, J.E.3
Ellwood, D.4
Kent, A.5
Falk, M.C.6
-
66
-
-
77449160786
-
Relationship of proximal renal tubular dysgenesis and fetal liver injury in neonatal hemochromatosis
-
Bonilla SF, Melin-Aldana H, Whitington PF. Relationship of proximal renal tubular dysgenesis and fetal liver injury in neonatal hemochromatosis. Pediatr Res 2010;67:188-193.
-
(2010)
Pediatr Res
, vol.67
, pp. 188-193
-
-
Bonilla, S.F.1
Melin-Aldana, H.2
Whitington, P.F.3
-
67
-
-
84873040895
-
Reduced angiotensinogen in neonatal hemochromatosis leads to impaired development of proximal renal tubules and compensatory glomerular changes
-
Azar D, Bonilla S, Amaro D, Whitington P, Krous H. Reduced angiotensinogen in neonatal hemochromatosis leads to impaired development of proximal renal tubules and compensatory glomerular changes. Lab Invest 2011;91:357A.
-
(2011)
Lab Invest
, vol.91
-
-
Azar, D.1
Bonilla, S.2
Amaro, D.3
Whitington, P.4
Krous, H.5
-
68
-
-
0018827992
-
Plasma ferritin concentrations: Their clinical significance and relevance to patient care
-
Valberg LS. Plasma ferritin concentrations: their clinical significance and relevance to patient care. Can Med Assoc J 1980;122:1240-1248.
-
(1980)
Can Med Assoc J
, vol.122
, pp. 1240-1248
-
-
Valberg, L.S.1
-
70
-
-
34548663336
-
Villitis of unknown etiology: Noninfectious chronic villitis in the placenta
-
Redline RW. Villitis of unknown etiology: noninfectious chronic villitis in the placenta. Hum Pathol. 2007;38:1439-1446.
-
(2007)
Hum Patho.l.
, vol.38
, pp. 1439-1446
-
-
Redline, R.W.1
-
71
-
-
0033678692
-
Chronic histiocytic intervillositis: A placental lesion associated with recurrent reproductive loss
-
Boyd TK, Redline RW. Chronic histiocytic intervillositis: a placental lesion associated with recurrent reproductive loss. Hum Pathol 2000;31:1389-1396.
-
(2000)
Hum Pathol
, vol.31
, pp. 1389-1396
-
-
Boyd, T.K.1
Redline, R.W.2
-
72
-
-
0033037049
-
Hemophagocytic syndrome presenting as acute hepatic failure in two infants: Clinical overlap with neonatal hemochromatosis
-
Parizhskaya M, Reyes J, Jaffe R. Hemophagocytic syndrome presenting as acute hepatic failure in two infants: clinical overlap with neonatal hemochromatosis. Pediatr Dev Pathol 1999;2:360-366.
-
(1999)
Pediatr Dev Pathol
, vol.2
, pp. 360-366
-
-
Parizhskaya, M.1
Reyes, J.2
Jaffe, R.3
-
73
-
-
0033508545
-
Histiocytic-phagocytic infiltrates in the liver of an infant: A case clinically simulating perinatal hemochromatosis
-
Senger C, Gonzalez-Crussi F. Histiocytic-phagocytic infiltrates in the liver of an infant: a case clinically simulating perinatal hemochromatosis. J Pediatr Gastroenterol Nutr 1999;29:215-220.
-
(1999)
J Pediatr Gastroenterol Nutr
, vol.29
, pp. 215-220
-
-
Senger, C.1
Gonzalez-Crussi, F.2
-
74
-
-
59149105000
-
Neonatal primary hemophagocytic lymphohistiocytosis in Turkish children
-
Gurgey A, Unal S, Okur H, Orhan D, Yurdakok M. Neonatal primary hemophagocytic lymphohistiocytosis in Turkish children. J Pediatr Hematol Oncol 2008;30:871-876.
-
(2008)
J Pediatr Hematol Oncol
, vol.30
, pp. 871-876
-
-
Gurgey, A.1
Unal, S.2
Okur, H.3
Orhan, D.4
Yurdakok, M.5
-
75
-
-
42449143510
-
Fatal sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) with MUNC13-4 mutations: Case reports
-
Nakao T, Shimizu T, Fukushima T, et al. Fatal sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) with MUNC13-4 mutations: case reports. Pediatr Hematol Oncol 2008; 25:171-180.
-
(2008)
Pediatr Hematol Oncol
, vol.25
, pp. 171-180
-
-
Nakao, T.1
Shimizu, T.2
Fukushima, T.3
-
76
-
-
16844367511
-
Foetomaternal erythrocyte incompatibilities: From immunohaematologic surveillance of pregnant women to haemolytic disease of the newborn
-
Miquel E, Cavelier B, Bonneau JC, Rouger P. Foetomaternal erythrocyte incompatibilities: from immunohaematologic surveillance of pregnant women to haemolytic disease of the newborn. Transfus Clin Biol 2005;12:45-55.
-
(2005)
Transfus Clin Biol
, vol.12
, pp. 45-55
-
-
Miquel, E.1
Cavelier, B.2
Bonneau, J.C.3
Rouger, P.4
-
77
-
-
33745865231
-
Mechanisms of disease: Alloimmunization in renal diseases
-
Ronco P, Debiec H, Guigonis V. Mechanisms of disease: alloimmunization in renal diseases. Nat Clin Pract Nephrol 2006; 2:388-397.
-
(2006)
Nat Clin Pract Nephrol
, vol.2
, pp. 388-397
-
-
Ronco, P.1
Debiec, H.2
Guigonis, V.3
-
78
-
-
0036214535
-
Alloimmune thrombocytopenia of the fetus and the newborn
-
Kaplan C. Alloimmune thrombocytopenia of the fetus and the newborn. Blood Rev 2002;16:69-72.
-
(2002)
Blood Rev
, vol.16
, pp. 69-72
-
-
Kaplan, C.1
-
79
-
-
0027377113
-
Neonatal hemochromatosis associated with maternal autoantibodies against Ro/SS-A and La/SS-B ribonucleoproteins
-
Schoenlebe J, Buyon JP, Zitelli BJ, Friedman D, Greco MA, Knisely AS. Neonatal hemochromatosis associated with maternal autoantibodies against Ro/SS-A and La/SS-B ribonucleoproteins. Am J Dis Child 1993;147:1072-1075.
-
(1993)
Am J Dis Child
, vol.147
, pp. 1072-1075
-
-
Schoenlebe, J.1
Buyon, J.P.2
Zitelli, B.J.3
Friedman, D.4
Greco, M.A.5
Knisely, A.S.6
-
81
-
-
77952691285
-
Neonatal hemochromatosis: A re-vision
-
Knisely AS, Vergani D. Neonatal hemochromatosis: a re-vision. Hepatology 2010;51:1888-1890.
-
(2010)
Hepatology
, vol.51
, pp. 1888-1890
-
-
Knisely, A.S.1
Vergani, D.2
-
82
-
-
45849083907
-
Vascular development and differentiation during human liver organogenesis
-
Collardeau-Frachon S, Scoazec JY. Vascular development and differentiation during human liver organogenesis. Anat Rec 2008; 291:614-627.
-
(2008)
Anat Rec
, vol.291
, pp. 614-627
-
-
Collardeau-Frachon, S.1
Scoazec, J.Y.2
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