-
1
-
-
0035933049
-
Inborn errors of metabolism: A cause of abnormal brain development
-
Nissenkorn, A., Michelson, M., Ben-Zeev, B., and Lerman-Sagie, T. (2001) Inborn errors of metabolism: a cause of abnormal brain development. Neurology 56, 1265-1272.
-
(2001)
Neurology
, vol.56
, pp. 1265-1272
-
-
Nissenkorn, A.1
Michelson, M.2
Ben-Zeev, B.3
Lerman-Sagie, T.4
-
2
-
-
69549122629
-
Primary disorders of metabolism and disturbed fetal brain development
-
Prasad, A. N., Malinger, G., and Lerman-Sagie, T. (2009) Primary disorders of metabolism and disturbed fetal brain development. Clin. Perinatol. 36, 621-638.
-
(2009)
Clin. Perinatol.
, vol.36
, pp. 621-638
-
-
Prasad, A.N.1
Malinger, G.2
Lerman-Sagie, T.3
-
3
-
-
4544366928
-
Living with the past: Evolution, development, and patterns of disease
-
Gluckman, P. D. and Hanson, M. A. (2004) Living with the past: evolution, development, and patterns of disease. Science 305, 1733-1736.
-
(2004)
Science
, vol.305
, pp. 1733-1736
-
-
Gluckman, P.D.1
Hanson, M.A.2
-
5
-
-
67650088017
-
Prenatal benzoate treatment in urea cycle defects
-
Das, A. M., Illsinger, S., Hartmann, H., Oehler, K., Bohnhorst, B., Kuhn-Velten, W. N., and Lucke, T. (2009) Prenatal benzoate treatment in urea cycle defects. Arch. Dis. Child Fetal Neonatal Ed. 94, F216-217.
-
(2009)
Arch. Dis. Child Fetal Neonatal Ed.
, vol.94
-
-
Das, A.M.1
Illsinger, S.2
Hartmann, H.3
Oehler, K.4
Bohnhorst, B.5
Kuhn-Velten, W.N.6
Lucke, T.7
-
6
-
-
0017751829
-
The activity of galactose-1-phosphate uridyltransferase and galactokinase in human fetal organs
-
Shin-Buehring, Y. S., Beier, T., Tan, A., Osang, M., and Schaub, J. (1977) The activity of galactose-1-phosphate uridyltransferase and galactokinase in human fetal organs. Pediatr. Res. 11, 1045-1051.
-
(1977)
Pediatr. Res.
, vol.11
, pp. 1045-1051
-
-
Shin-Buehring, Y.S.1
Beier, T.2
Tan, A.3
Osang, M.4
Schaub, J.5
-
7
-
-
0037747697
-
Carbohydrate metabolism in liver from foetal and neonatal sheep
-
Ballard, F. J. and Oliver, I. T. (1965) Carbohydrate Metabolism in Liver from Foetal and Neonatal Sheep. Biochem. J. 95, 191-200.
-
(1965)
Biochem. J.
, vol.95
, pp. 191-200
-
-
Ballard, F.J.1
Oliver, I.T.2
-
8
-
-
84920246745
-
Evidence for galactosaemia in utero
-
Allen, J. T., Gillett, M., Holton, J. B., King, G. S., and Pettit, B. R. (1980) Evidence for galactosaemia in utero. Lancet 1, 603.
-
(1980)
Lancet
, vol.1
, pp. 603
-
-
Allen, J.T.1
Gillett, M.2
Holton, J.B.3
King, G.S.4
Pettit, B.R.5
-
9
-
-
0022388593
-
Perinatal galactose metabolism
-
Kliegman, R. M. and Sparks, J. W. (1985) Perinatal galactose metabolism. J. Pediatr. 107, 831-841.
-
(1985)
J. Pediatr.
, vol.107
, pp. 831-841
-
-
Kliegman, R.M.1
Sparks, J.W.2
-
10
-
-
0017806089
-
Effect of galactose on free radical reactions of polymorphonuclear leukocytes
-
Litchfield, W. J. and Wells, W. W. (1978) Effect of galactose on free radical reactions of polymorphonuclear leukocytes. Arch. Biochem. Biophys. 188, 26-30.
-
(1978)
Arch. Biochem. Biophys.
, vol.188
, pp. 26-30
-
-
Litchfield, W.J.1
Wells, W.W.2
-
11
-
-
0014802266
-
Pseudotumor cerebri in galactosemia
-
Huttenlocher, P. R., Hillman, R. E., and Hsia, Y. E. (1970) Pseudotumor cerebri in galactosemia. J. Pediatr. 76, 902-905.
-
(1970)
J. Pediatr.
, vol.76
, pp. 902-905
-
-
Huttenlocher, P.R.1
Hillman, R.E.2
Hsia, Y.E.3
-
12
-
-
0033914738
-
Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency
-
Ning, C., Reynolds, R., Chen, J., Yager, C., Berry, G. T., McNamara, P. D., Leslie, N., and Segal, S. (2000) Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency. Pediatr. Res. 48, 211-217. (Pubitemid 30497339)
-
(2000)
Pediatric Research
, vol.48
, Issue.2
, pp. 211-217
-
-
Ning, C.1
Reynolds, R.2
Chen, J.3
Yager, C.4
Berry, G.T.5
McNamara, P.D.6
Leslie, N.7
Segal, S.8
-
13
-
-
0023894728
-
Galactose and cataract
-
Stambolian, D. (1988) Galactose and cataract. Surv. Ophthalmol. 32, 333-349.
-
(1988)
Surv. Ophthalmol.
, vol.32
, pp. 333-349
-
-
Stambolian, D.1
-
14
-
-
0018931130
-
Pitfalls in the radioactive method of galactose-1-phosphate uridyltransferase activity measurement
-
Shin-Buehring, Y. S. and Schaub, J. (1980) Pitfalls in the radioactive method of galactose-1-phosphate uridyltransferase activity measurement. Clin. Chim. Acta. 106, 231-234.
-
(1980)
Clin. Chim. Acta.
, vol.106
, pp. 231-234
-
-
Shin-Buehring, Y.S.1
Schaub, J.2
-
15
-
-
0037978092
-
Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder
-
Horslen, S. P., McCowan, T. C., Goertzen, T. C., Warkentin, P. I., Cai, H. B., Strom, S. C., and Fox, I. J. (2003) Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder. Pediatrics 111, 1262-1267.
-
(2003)
Pediatrics
, vol.111
, pp. 1262-1267
-
-
Horslen, S.P.1
McCowan, T.C.2
Goertzen, T.C.3
Warkentin, P.I.4
Cai, H.B.5
Strom, S.C.6
Fox, I.J.7
-
16
-
-
65649095157
-
One liver for four children: First clinical series of liver cell transplantation for severe neonatal urea cycle defects
-
Meyburg, J., Das, A. M., Hoerster, F., Lindner, M., Kriegbaum, H., Engelmann, G., Schmidt, J., Ott, M., Pettenazzo, A., Luecke, T., Bertram, H., Hoffmann, G. F., and Burlina, A. (2009) One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects. Transplantation 87, 636-641.
-
(2009)
Transplantation
, vol.87
, pp. 636-641
-
-
Meyburg, J.1
Das, A.M.2
Hoerster, F.3
Lindner, M.4
Kriegbaum, H.5
Engelmann, G.6
Schmidt, J.7
Ott, M.8
Pettenazzo, A.9
Luecke, T.10
Bertram, H.11
Hoffmann, G.F.12
Burlina, A.13
-
17
-
-
0346124136
-
The maternal phenylketonuria international study: 1984-2002
-
Koch, R., Hanley, W., Levy, H., Matalon, K., Matalon, R., Rouse, B., Trefz, F., Guttler, F., Azen, C., Platt, L., Waisbren, S., Widaman, K., Ning, J., Friedman, E. G., and de la Cruz, F. (2003) The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics 112, 1523-1529.
-
(2003)
Pediatrics
, vol.112
, pp. 1523-1529
-
-
Koch, R.1
Hanley, W.2
Levy, H.3
Matalon, K.4
Matalon, R.5
Rouse, B.6
Trefz, F.7
Guttler, F.8
Azen, C.9
Platt, L.10
Waisbren, S.11
Widaman, K.12
Ning, J.13
Friedman, E.G.14
De La Cruz, F.15
-
18
-
-
4544328983
-
Maternal phenylketonuria: The French survey
-
Feillet, F., Abadie, V., Berthelot, J., Maurin, N., Ogier, H., Vidailhet, M., Farriaux, J. P., and de Parscau, L. (2004) Maternal phenylketonuria: the French survey. Eur. J. Pediatr. 163, 540-546.
-
(2004)
Eur. J. Pediatr.
, vol.163
, pp. 540-546
-
-
Feillet, F.1
Abadie, V.2
Berthelot, J.3
Maurin, N.4
Ogier, H.5
Vidailhet, M.6
Farriaux, J.P.7
De Parscau, L.8
-
19
-
-
13244292426
-
Maternal phenylketonuria: Report from the United Kingdom Registry 1978-97
-
Lee, P. J., Ridout, D., Walter, J. H., and Cockburn, F. (2005) Maternal phenylketonuria: report from the United Kingdom Registry 1978-97. Arch. Dis. Child. 90, 143-146.
-
(2005)
Arch. Dis. Child.
, vol.90
, pp. 143-146
-
-
Lee, P.J.1
Ridout, D.2
Walter, J.H.3
Cockburn, F.4
-
20
-
-
0030010869
-
Fetal ultrasonography in maternal PKU
-
Levy, H. L., Lobbregt, D., Platt, L. D., and Benacerraf, B. R. (1996) Fetal ultrasonography in maternal PKU. Prenat. Diagn. 16, 599-604.
-
(1996)
Prenat. Diagn.
, vol.16
, pp. 599-604
-
-
Levy, H.L.1
Lobbregt, D.2
Platt, L.D.3
Benacerraf, B.R.4
-
21
-
-
0035037211
-
Congenital heart disease in maternal phenylketonuria: Report from the Maternal PKU Collaborative Study
-
Levy, H. L., Guldberg, P., Guttler, F., Hanley, W. B., Matalon, R., Rouse, B. M., Trefz, F., Azen, C., Allred, E. N., de la Cruz, F., and Koch, R. (2001) Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study. Pediatr. Res. 49, 636-642.
-
(2001)
Pediatr. Res.
, vol.49
, pp. 636-642
-
-
Levy, H.L.1
Guldberg, P.2
Guttler, F.3
Hanley, W.B.4
Matalon, R.5
Rouse, B.M.6
Trefz, F.7
Azen, C.8
Allred, E.N.9
De La Cruz, F.10
Koch, R.11
-
22
-
-
0029898949
-
Maternal phenylketonuria: Magnetic resonance imaging of the brain in offspring
-
Levy, H. L., Lobbregt, D., Barnes, P. D., and Poussaint, T. Y. (1996) Maternal phenylketonuria: magnetic resonance imaging of the brain in offspring. J. Pediatr. 128, 770-775.
-
(1996)
J. Pediatr.
, vol.128
, pp. 770-775
-
-
Levy, H.L.1
Lobbregt, D.2
Barnes, P.D.3
Poussaint, T.Y.4
-
23
-
-
0019156116
-
Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies
-
Lenke, R. R., and Levy, H. L. (1980) Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N. Engl. J. Med. 303, 1202-1208.
-
(1980)
N. Engl. J. Med.
, vol.303
, pp. 1202-1208
-
-
Lenke, R.R.1
Levy, H.L.2
-
24
-
-
0347385138
-
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome
-
Guttler, F., Azen, C., Guldberg, P., Romstad, A., Hanley, W. B., Levy, H. L., Matalon, R., Rouse, B. M., Trefz, F., de la Cruz, F., and Koch, R. (2003) Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Pediatrics 112, 1530-1533.
-
(2003)
Pediatrics
, vol.112
, pp. 1530-1533
-
-
Guttler, F.1
Azen, C.2
Guldberg, P.3
Romstad, A.4
Hanley, W.B.5
Levy, H.L.6
Matalon, R.7
Rouse, B.M.8
Trefz, F.9
De La Cruz, F.10
Koch, R.11
-
25
-
-
0025083324
-
Transport of amino acids by the human placenta: Predicted effects thereon of maternal hyperphenylalaninaemia
-
Kudo, Y. and Boyd, C. A. (1990) Transport of amino acids by the human placenta: predicted effects thereon of maternal hyperphenylalaninaemia. J. Inherit. Metab. Dis. 13, 617-626.
-
(1990)
J. Inherit. Metab. Dis.
, vol.13
, pp. 617-626
-
-
Kudo, Y.1
Boyd, C.A.2
-
26
-
-
0029977276
-
Maternal phenylketonuria: A metabolic teratogen
-
Levy, H. L. and Ghavami, M. (1996) Maternal phenylketonuria: a metabolic teratogen. Teratology 53, 176-184.
-
(1996)
Teratology
, vol.53
, pp. 176-184
-
-
Levy, H.L.1
Ghavami, M.2
-
27
-
-
0025172172
-
Phenylalanine and its metabolites induce embryopathies in mouse embryos in culture
-
Denno, K. M. and Sadler, T. W. (1990) Phenylalanine and its metabolites induce embryopathies in mouse embryos in culture. Teratology 42, 565-570.
-
(1990)
Teratology
, vol.42
, pp. 565-570
-
-
Denno, K.M.1
Sadler, T.W.2
-
28
-
-
0021004435
-
Experimental maternal phenylketonuria: An examination of two animal models
-
Loo, Y. H., Rabe, A., Potempska, A., Wang, P., Fersko, R., and Wisniewski, H. M. (1983) Experimental maternal phenylketonuria: an examination of two animal models. Dev. Neurosci. 6, 227-234.
-
(1983)
Dev. Neurosci.
, vol.6
, pp. 227-234
-
-
Loo, Y.H.1
Rabe, A.2
Potempska, A.3
Wang, P.4
Fersko, R.5
Wisniewski, H.M.6
-
29
-
-
0033504353
-
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
Kure, S., Hou, D. C., Ohura, T., Iwamoto, H., Suzuki, S., Sugiyama, N., Sakamoto, O., Fujii, K., Matsubara, Y., and Narisawa, K. (1999) Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J. Pediatr. 135, 375-378.
-
(1999)
J. Pediatr.
, vol.135
, pp. 375-378
-
-
Kure, S.1
Hou, D.C.2
Ohura, T.3
Iwamoto, H.4
Suzuki, S.5
Sugiyama, N.6
Sakamoto, O.7
Fujii, K.8
Matsubara, Y.9
Narisawa, K.10
-
30
-
-
0346753967
-
Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria
-
Trefz, F. K. and Blau, N. (2003) Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria. Pediatrics 112, 1566-1569.
-
(2003)
Pediatrics
, vol.112
, pp. 1566-1569
-
-
Trefz, F.K.1
Blau, N.2
-
31
-
-
0141886877
-
Niemann-Pick disease type C
-
Vanier, M. T. and Millat, G. (2003) Niemann-Pick disease type C. Clin. Genet. 64, 269-281.
-
(2003)
Clin. Genet.
, vol.64
, pp. 269-281
-
-
Vanier, M.T.1
Millat, G.2
-
32
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
Meikle, P. J., Hopwood, J. J., Clague, A. E., and Carey, W. F. (1999) Prevalence of lysosomal storage disorders. JAMA 281, 249-254.
-
(1999)
JAMA
, vol.281
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
Carey, W.F.4
-
33
-
-
10744233030
-
Prevalence of lysosomal storage diseases in Portugal
-
Pinto, R., Caseiro, C., Lemos, M., Lopes, L., Fontes, A., Ribeiro, H., Pinto, E., Silva, E., Rocha, S., Marcao, A., Ribeiro, I., Lacerda, L., Ribeiro, G., Amaral, O., and Sa Miranda, M. C. (2004) Prevalence of lysosomal storage diseases in Portugal. Eur. J. Hum. Genet. 12, 87-92.
-
(2004)
Eur. J. Hum. Genet.
, vol.12
, pp. 87-92
-
-
Pinto, R.1
Caseiro, C.2
Lemos, M.3
Lopes, L.4
Fontes, A.5
Ribeiro, H.6
Pinto, E.7
Silva, E.8
Rocha, S.9
Marcao, A.10
Ribeiro, I.11
Lacerda, L.12
Ribeiro, G.13
Amaral, O.14
Sa Miranda, M.C.15
-
34
-
-
67849098806
-
Recommendations on the diagnosis and management of Niemann-Pick disease type C
-
Wraith, J. E., Baumgartner, M. R., Bembi, B., Covanis, A., Levade, T., Mengel, E., Pineda, M., Sedel, F., Topcu, M., Vanier, M. T., Widner, H., Wijburg, F. A., and Patterson, M. C. (2009) Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol. Genet. Metab. 98, 152-165.
-
(2009)
Mol. Genet. Metab.
, vol.98
, pp. 152-165
-
-
Wraith, J.E.1
Baumgartner, M.R.2
Bembi, B.3
Covanis, A.4
Levade, T.5
Mengel, E.6
Pineda, M.7
Sedel, F.8
Topcu, M.9
Vanier, M.T.10
Widner, H.11
Wijburg, F.A.12
Patterson, M.C.13
-
35
-
-
51849116835
-
The pathogenesis of Niemann-Pick type C disease: A role for autophagy?
-
Pacheco, C. D. and Lieberman, A. P. (2008) The pathogenesis of Niemann- Pick type C disease: a role for autophagy? Expert Rev. Mol. Med. 10, e26.
-
(2008)
Expert Rev. Mol. Med.
, vol.10
-
-
Pacheco, C.D.1
Lieberman, A.P.2
-
36
-
-
15744378799
-
Altered cholesterol metabolism in Niemann-Pick type C1 mouse brains affects mitochondrial function
-
Yu, W., Gong, J. S., Ko, M., Garver, W. S., Yanagisawa, K., and Michikawa, M. (2005) Altered cholesterol metabolism in Niemann-Pick type C1 mouse brains affects mitochondrial function. J. Biol. Chem. 280, 11731-11739.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 11731-11739
-
-
Yu, W.1
Gong, J.S.2
Ko, M.3
Garver, W.S.4
Yanagisawa, K.5
Michikawa, M.6
-
37
-
-
64749110513
-
TNF-{alpha} plays a role in hepatocyte apoptosis in Niemann-Pick type C liver disease
-
Rimkunas, V. M., Graham, M. J., Crooke, R. M., and Liscum, L. (2009) TNF-{alpha} plays a role in hepatocyte apoptosis in Niemann- Pick type C liver disease. J. Lipid Res. 50, 327-333.
-
(2009)
J. Lipid Res.
, vol.50
, pp. 327-333
-
-
Rimkunas, V.M.1
Graham, M.J.2
Crooke, R.M.3
Liscum, L.4
-
38
-
-
0024436864
-
Fetal ascites: An unusual presentation of Niemann-Pick disease type C
-
Maconochie, I. K., Chong, S., Mieli-Vergani, G., Lake, B. D., and Mowat, A. P. (1989) Fetal ascites: an unusual presentation of Niemann- Pick disease type C. Arch. Dis. Child. 64, 1391-1393.
-
(1989)
Arch. Dis. Child.
, vol.64
, pp. 1391-1393
-
-
Maconochie, I.K.1
Chong, S.2
Mieli-Vergani, G.3
Lake, B.D.4
Mowat, A.P.5
-
39
-
-
0025319480
-
Fetal ascites: An unusual presentation of Niemann-Pick disease type C
-
Manning, D. J., Price, W. I., and Pearse, R. G. (1990) Fetal ascites: an unusual presentation of Niemann-Pick disease type C. Arch. Dis. Child. 65, 335-336.
-
(1990)
Arch. Dis. Child.
, vol.65
, pp. 335-336
-
-
Manning, D.J.1
Price, W.I.2
Pearse, R.G.3
-
40
-
-
61749096062
-
The clinical spectrum of fetal Niemann-Pick type C
-
Spiegel, R., Raas-Rothschild, A., Reish, O., Regev, M., Meiner, V., Bargal, R., Sury, V., Meir, K., Nadjari, M., Hermann, G., Iancu, T. C., Shalev, S. A., and Zeigler, M. (2009) The clinical spectrum of fetal Niemann-Pick type C. Am. J. Med. Genet. A 149A, 446-450.
-
(2009)
Am. J. Med. Genet. A
, vol.149 A
, pp. 446-450
-
-
Spiegel, R.1
Raas-Rothschild, A.2
Reish, O.3
Regev, M.4
Meiner, V.5
Bargal, R.6
Sury, V.7
Meir, K.8
Nadjari, M.9
Hermann, G.10
Iancu, T.C.11
Shalev, S.A.12
Zeigler, M.13
-
41
-
-
34249909505
-
The National Niemann-Pick C1 disease database: Report of clinical features and health problems
-
Garver, W. S., Francis, G. A., Jelinek, D., Shepherd, G., Flynn, J., Castro, G., Walsh Vockley, C., Coppock, D. L., Pettit, K. M., Heidenreich, R. A., and Meaney, F. J. (2007) The National Niemann-Pick C1 disease database: report of clinical features and health problems. Am. J. Med. Genet. A 143A, 1204-1211.
-
(2007)
Am. J. Med. Genet. A
, vol.143 A
, pp. 1204-1211
-
-
Garver, W.S.1
Francis, G.A.2
Jelinek, D.3
Shepherd, G.4
Flynn, J.5
Castro, G.6
Walsh Vockley, C.7
Coppock, D.L.8
Pettit, K.M.9
Heidenreich, R.A.10
Meaney, F.J.11
-
42
-
-
33846412228
-
The natural history of Niemann-Pick disease type C in the UK
-
Imrie, J., Dasgupta, S., Besley, G. T., Harris, C., Heptinstall, L., Knight, S., Vanier, M. T., Fensom, A. H., Ward, C., Jacklin, E., Whitehouse, C., and Wraith, J. E. (2007) The natural history of Niemann-Pick disease type C in the UK. J. Inherit. Metab. Dis. 30, 51-59.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 51-59
-
-
Imrie, J.1
Dasgupta, S.2
Besley, G.T.3
Harris, C.4
Heptinstall, L.5
Knight, S.6
Vanier, M.T.7
Fensom, A.H.8
Ward, C.9
Jacklin, E.10
Whitehouse, C.11
Wraith, J.E.12
-
43
-
-
33748714980
-
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C
-
Ries, M., Schaefer, E., Luhrs, T., Mani, L., Kuhn, J., Vanier, M. T., Krummenauer, F., Gal, A., Beck, M., and Mengel, E. (2006) Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C. J. Inherit. Metab. Dis. 29, 647-652.
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, pp. 647-652
-
-
Ries, M.1
Schaefer, E.2
Luhrs, T.3
Mani, L.4
Kuhn, J.5
Vanier, M.T.6
Krummenauer, F.7
Gal, A.8
Beck, M.9
Mengel, E.10
-
44
-
-
0032475959
-
The human chitotriosidase gene. Nature of inherited enzyme deficiency
-
Boot, R. G., Renkema, G. H., Verhoek, M., Strijland, A., Bliek, J., de Meulemeester, T. M., Mannens, M. M., and Aerts, J. M. (1998) The human chitotriosidase gene. Nature of inherited enzyme deficiency. J. Biol. Chem. 273, 25680-25685.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 25680-25685
-
-
Boot, R.G.1
Renkema, G.H.2
Verhoek, M.3
Strijland, A.4
Bliek, J.5
De Meulemeester, T.M.6
Mannens, M.M.7
Aerts, J.M.8
-
45
-
-
0026736134
-
Prenatal diagnosis of Niemann-Pick type C disease: Current strategy from an experience of 37 pregnancies at risk
-
Vanier, M. T., Rodriguez-Lafrasse, C., Rousson, R., Mandon, G., Boue, J., Choiset, A., Peyrat, M. F., Dumontel, C., Juge, M. C., Pentchev, P. G., Revol, A., and Lomisot, P. (1992) Prenatal diagnosis of Niemann- Pick type C disease: current strategy from an experience of 37 pregnancies at risk. Am. J. Hum. Genet. 51, 111-122.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 111-122
-
-
Vanier, M.T.1
Rodriguez-Lafrasse, C.2
Rousson, R.3
Mandon, G.4
Boue, J.5
Choiset, A.6
Peyrat, M.F.7
Dumontel, C.8
Juge, M.C.9
Pentchev, P.G.10
Revol, A.11
Lomisot, P.12
-
46
-
-
0035990150
-
Prenatal diagnosis of Niemann-Pick diseases types A, B and C
-
Vanier, M. T. (2002) Prenatal diagnosis of Niemann-Pick diseases types A, B and C. Prenat. Diagn. 22, 630-632.
-
(2002)
Prenat. Diagn.
, vol.22
, pp. 630-632
-
-
Vanier, M.T.1
-
47
-
-
0034755958
-
Niemann-Pick disease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group
-
Millat, G., Chikh, K., Naureckiene, S., Sleat, D. E., Fensom, A. H., Higaki, K., Elleder, M., Lobel, P., and Vanier, M. T. (2001) Niemann- Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Am. J. Hum. Genet. 69, 1013-1021.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 1013-1021
-
-
Millat, G.1
Chikh, K.2
Naureckiene, S.3
Sleat, D.E.4
Fensom, A.H.5
Higaki, K.6
Elleder, M.7
Lobel, P.8
Vanier, M.T.9
-
48
-
-
0035140109
-
SSCP analysis by RT-PCR for the prenatal diagnosis of Niemann-Pick disease type C
-
Tsukamoto, H., Yamamoto, T., Nishigaki, T., Sakai, N., Nanba, E., Ninomiya, H., Ohno, K., Inui, K., and Okada, S. (2001) SSCP analysis by RT-PCR for the prenatal diagnosis of Niemann-Pick disease type C. Prenat. Diagn. 21, 55-57.
-
(2001)
Prenat. Diagn.
, vol.21
, pp. 55-57
-
-
Tsukamoto, H.1
Yamamoto, T.2
Nishigaki, T.3
Sakai, N.4
Nanba, E.5
Ninomiya, H.6
Ohno, K.7
Inui, K.8
Okada, S.9
-
49
-
-
0035928841
-
Critical role for glycosphingolipids in Niemann-Pick disease type C
-
Zervas, M., Somers, K. L., Thrall, M. A., and Walkley, S. U. (2001) Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr. Biol. 11, 1283-1287.
-
(2001)
Curr. Biol.
, vol.11
, pp. 1283-1287
-
-
Zervas, M.1
Somers, K.L.2
Thrall, M.A.3
Walkley, S.U.4
-
50
-
-
34547753513
-
Miglustat for treatment of Niemann-Pick C disease: A randomised controlled study
-
Patterson, M. C., Vecchio, D., Prady, H., Abel, L., and Wraith, J. E. (2007) Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 6, 765-772.
-
(2007)
Lancet Neurol.
, vol.6
, pp. 765-772
-
-
Patterson, M.C.1
Vecchio, D.2
Prady, H.3
Abel, L.4
Wraith, J.E.5
-
51
-
-
77649249576
-
Long-term miglustat therapy in children with Niemann-Pick disease type C
-
Patterson, M. C., Vecchio, D., Jacklin, E., Abel, L., Chadha-Boreham, H., Luzy, C., Giorgino, R., and Wraith, J. E. (2010) Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C. J. Child Neurol. 25, 300-305.
-
(2010)
J. Child Neurol.
, vol.25
, pp. 300-305
-
-
Patterson, M.C.1
Vecchio, D.2
Jacklin, E.3
Abel, L.4
Chadha-Boreham, H.5
Luzy, C.6
Giorgino, R.7
Wraith, J.E.8
-
52
-
-
0038177998
-
Human placenta metabolizes fatty acids: Implications for fetal fatty acid oxidation disorders and maternal liver diseases
-
Shekhawat, P., Bennett, M. J., Sadovsky, Y., Nelson, D. M., Rakheja, D., and Strauss, A. W. (2003) Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases. Am. J. Physiol. Endocrinol. Metab. 284, E1098-E1105.
-
(2003)
Am. J. Physiol. Endocrinol. Metab.
, vol.284
-
-
Shekhawat, P.1
Bennett, M.J.2
Sadovsky, Y.3
Nelson, D.M.4
Rakheja, D.5
Strauss, A.W.6
-
53
-
-
0036581549
-
Evidence for fatty acid oxidation in human placenta, and the relationship of fatty acid oxidation enzyme activities with gestational age
-
Rakheja, D., Bennett, M. J., Foster, B. M., Domiati-Saad, R., and Rogers, B. B. (2002) Evidence for fatty acid oxidation in human placenta, and the relationship of fatty acid oxidation enzyme activities with gestational age. Placenta 23, 447-450.
-
(2002)
Placenta
, vol.23
, pp. 447-450
-
-
Rakheja, D.1
Bennett, M.J.2
Foster, B.M.3
Domiati-Saad, R.4
Rogers, B.B.5
-
54
-
-
0041418259
-
High activity of fatty acid oxidation enzymes in human placenta: Implications for fetal-maternal disease
-
Oey, N. A., den Boer, M. E., Ruiter, J. P., Wanders, R. J., Duran, M., Waterham, H. R., Boer, K., van der Post, J. A., and Wijburg, F. A. (2003) High activity of fatty acid oxidation enzymes in human placenta: implications for fetal-maternal disease. J. Inherit. Metab. Dis. 26, 385-392.
-
(2003)
J. Inherit. Metab. Dis.
, vol.26
, pp. 385-392
-
-
Oey, N.A.1
Den Boer, M.E.2
Ruiter, J.P.3
Wanders, R.J.4
Duran, M.5
Waterham, H.R.6
Boer, K.7
Van Der Post, J.A.8
Wijburg, F.A.9
-
55
-
-
21144438020
-
Long-chain fatty acid oxidation during early human development
-
Oey, N. A., den Boer, M. E., Wijburg, F. A., Vekemans, M., Auge, J., Steiner, C., Wanders, R. J., Waterham, H. R., Ruiter, J. P., and Attie-Bitach, T. (2005) Long-chain fatty acid oxidation during early human development. Pediatr. Res. 57, 755-759.
-
(2005)
Pediatr. Res.
, vol.57
, pp. 755-759
-
-
Oey, N.A.1
Den Boer, M.E.2
Wijburg, F.A.3
Vekemans, M.4
Auge, J.5
Steiner, C.6
Wanders, R.J.7
Waterham, H.R.8
Ruiter, J.P.9
Attie-Bitach, T.10
-
56
-
-
33645654310
-
Fatty acid oxidation in the human fetus: Implications for fetal and adult disease
-
Oey, N. A., Ruiter, J. P., Attie-Bitach, T., Ijlst, L., Wanders, R. J., and Wijburg, F. A. (2006) Fatty acid oxidation in the human fetus: implications for fetal and adult disease. J. Inherit. Metab. Dis. 29, 71-75.
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, pp. 71-75
-
-
Oey, N.A.1
Ruiter, J.P.2
Attie-Bitach, T.3
Ijlst, L.4
Wanders, R.J.5
Wijburg, F.A.6
-
57
-
-
0028896125
-
Perinatal maturation of rat kidney mitochondria
-
Prieur, B., Cordeau-Lossouarn, L., Rotig, A., Bismuth, J., Geloso, J. P., and Delaval, E. (1995) Perinatal maturation of rat kidney mitochondria. Biochem. J. 305(Pt. 2), 675-680.
-
(1995)
Biochem. J.
, vol.305
, Issue.PART 2
, pp. 675-680
-
-
Prieur, B.1
Cordeau-Lossouarn, L.2
Rotig, A.3
Bismuth, J.4
Geloso, J.P.5
Delaval, E.6
-
58
-
-
0033797760
-
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency
-
Faivre, L., Cormier-Daire, V., Chretien, D., Christoph von Kleist- Retzow, J., Amiel, J., Dommergues, M., Saudubray, J. M., Dumez, Y., Rotig, A., Rustin, P., and Munnich, A. (2000) Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency. Prenat. Diagn. 20, 732-737.
-
(2000)
Prenat. Diagn.
, vol.20
, pp. 732-737
-
-
Faivre, L.1
Cormier-Daire, V.2
Chretien, D.3
Christoph Von Kleist-Retzow, J.4
Amiel, J.5
Dommergues, M.6
Saudubray, J.M.7
Dumez, Y.8
Rotig, A.9
Rustin, P.10
Munnich, A.11
-
59
-
-
41649106228
-
Activities of respiratory chain complexes and pyruvate dehydrogenase in isolated muscle mitochondria in premature neonates
-
Honzik, T., Wenchich, L., Bohm, M., Hansikova, H., Pejznochova, M., Zapadlo, M., Plavka, R., and Zeman, J. (2008) Activities of respiratory chain complexes and pyruvate dehydrogenase in isolated muscle mitochondria in premature neonates. Early Hum. Dev. 84, 269-276.
-
(2008)
Early Hum. Dev.
, vol.84
, pp. 269-276
-
-
Honzik, T.1
Wenchich, L.2
Bohm, M.3
Hansikova, H.4
Pejznochova, M.5
Zapadlo, M.6
Plavka, R.7
Zeman, J.8
-
60
-
-
0033525773
-
Mitochondrial diseases in man and mouse
-
Wallace, D. C. (1999) Mitochondrial diseases in man and mouse. Science 283, 1482-1488.
-
(1999)
Science
, vol.283
, pp. 1482-1488
-
-
Wallace, D.C.1
-
61
-
-
33745215866
-
L-carnitine is synthesized in the human fetalplacental unit: Potential roles in placental and fetal metabolism
-
Oey, N. A., van Vlies, N., Wijburg, F. A., Wanders, R. J., Attie-Bitach, T., and Vaz, F. M. (2006) L-carnitine is synthesized in the human fetalplacental unit: potential roles in placental and fetal metabolism. Placenta 27, 841-846.
-
(2006)
Placenta
, vol.27
, pp. 841-846
-
-
Oey, N.A.1
Van Vlies, N.2
Wijburg, F.A.3
Wanders, R.J.4
Attie-Bitach, T.5
Vaz, F.M.6
-
62
-
-
4043162795
-
Disrupted blastocoele formation reveals a critical developmental role for long-chain acyl-CoA dehydrogenase
-
Berger, P. S. and Wood, P. A. (2004) Disrupted blastocoele formation reveals a critical developmental role for long-chain acyl-CoA dehydrogenase. Mol. Genet. Metab. 82, 266-272.
-
(2004)
Mol. Genet. Metab.
, vol.82
, pp. 266-272
-
-
Berger, P.S.1
Wood, P.A.2
-
63
-
-
0142213246
-
Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies
-
Lundy, C. T., Shield, J. P., Kvittingen, E. A., Vinorum, O. J., Trimble, E. R., and Morris, A. A. (2003) Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies. J. Inherit. Metab. Dis. 26, 537-541.
-
(2003)
J. Inherit. Metab. Dis.
, vol.26
, pp. 537-541
-
-
Lundy, C.T.1
Shield, J.P.2
Kvittingen, E.A.3
Vinorum, O.J.4
Trimble, E.R.5
Morris, A.A.6
-
64
-
-
0036140895
-
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Clinical presentation and follow-up of 50 patients
-
den Boer, M. E., Wanders, R. J., Morris, A. A., L, I. J., Heymans, H. S., and Wijburg, F. A. (2002) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics 109, 99-104.
-
(2002)
Pediatrics
, vol.109
, pp. 99-104
-
-
Den Boer, M.E.1
Wanders, R.J.2
Morris, A.A.3
L, I.J.4
Heymans, H.S.5
Wijburg, F.A.6
-
65
-
-
0034987233
-
Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death
-
Ibdah, J. A., Paul, H., Zhao, Y., Binford, S., Salleng, K., Cline, M., Matern, D., Bennett, M. J., Rinaldo, P., and Strauss, A. W. (2001) Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death. J. Clin. Invest. 107, 1403-1409.
-
(2001)
J. Clin. Invest.
, vol.107
, pp. 1403-1409
-
-
Ibdah, J.A.1
Paul, H.2
Zhao, Y.3
Binford, S.4
Salleng, K.5
Cline, M.6
Matern, D.7
Bennett, M.J.8
Rinaldo, P.9
Strauss, A.W.10
-
66
-
-
0031981027
-
Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
-
Tyni, T., Ekholm, E., and Pihko, H. (1998) Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Am. J. Obstet. Gynecol. 178, 603-608.
-
(1998)
Am. J. Obstet. Gynecol.
, vol.178
, pp. 603-608
-
-
Tyni, T.1
Ekholm, E.2
Pihko, H.3
-
67
-
-
0037603250
-
IUGR alters postnatal rat skeletal muscle peroxisome proliferator- activated receptorgamma coactivator-1 gene expression in a fiber specific manner
-
Lane, R. H., Maclennan, N. K., Daood, M. J., Hsu, J. L., Janke, S. M., Pham, T. D., Puri, A. R., and Watchko, J. F. (2003) IUGR alters postnatal rat skeletal muscle peroxisome proliferator-activated receptorgamma coactivator-1 gene expression in a fiber specific manner. Pediatr. Res. 53, 994-1000.
-
(2003)
Pediatr. Res.
, vol.53
, pp. 994-1000
-
-
Lane, R.H.1
Maclennan, N.K.2
Daood, M.J.3
Hsu, J.L.4
Janke, S.M.5
Pham, T.D.6
Puri, A.R.7
Watchko, J.F.8
-
68
-
-
0031661215
-
In utero programming of chronic disease
-
Barker, D. J. (1998) In utero programming of chronic disease. Clin. Sci. (Lond.) 95, 115-128.
-
(1998)
Clin. Sci. (Lond.)
, vol.95
, pp. 115-128
-
-
Barker, D.J.1
-
69
-
-
0029080735
-
Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys
-
North, K. N., Hoppel, C. L., De Girolami, U., Kozakewich, H. P., and Korson, M. S. (1995) Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. J. Pediatr. 127, 414-420.
-
(1995)
J. Pediatr.
, vol.127
, pp. 414-420
-
-
North, K.N.1
Hoppel, C.L.2
De Girolami, U.3
Kozakewich, H.P.4
Korson, M.S.5
-
70
-
-
0033519714
-
A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women
-
Ibdah, J. A., Bennett, M. J., Rinaldo, P., Zhao, Y., Gibson, B., Sims, H. F., and Strauss, A. W. (1999) A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N. Engl. J. Med. 340, 1723-1731.
-
(1999)
N. Engl. J. Med.
, vol.340
, pp. 1723-1731
-
-
Ibdah, J.A.1
Bennett, M.J.2
Rinaldo, P.3
Zhao, Y.4
Gibson, B.5
Sims, H.F.6
Strauss, A.W.7
-
71
-
-
0032898281
-
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications
-
Strauss, A. W., Bennett, M. J., Rinaldo, P., Sims, H. F., O'Brien, L. K., Zhao, Y., Gibson, B., and Ibdah, J. (1999) Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. Semin. Perinatol. 23, 100-112.
-
(1999)
Semin. Perinatol.
, vol.23
, pp. 100-112
-
-
Strauss, A.W.1
Bennett, M.J.2
Rinaldo, P.3
Sims, H.F.4
O'Brien, L.K.5
Zhao, Y.6
Gibson, B.7
Ibdah, J.8
-
72
-
-
0026085434
-
Recurrent acute fatty liver of pregnancy associated with a fatty-acid oxidation defect in the offspring
-
Schoeman, M. N., Batey, R. G., and Wilcken, B. (1991) Recurrent acute fatty liver of pregnancy associated with a fatty-acid oxidation defect in the offspring. Gastroenterology 100, 544-548.
-
(1991)
Gastroenterology
, vol.100
, pp. 544-548
-
-
Schoeman, M.N.1
Batey, R.G.2
Wilcken, B.3
-
73
-
-
77949455431
-
Preeclampsia and HELLP Syndrome: Impaired mitochondrial function in umbilical endothelial cells
-
Illsinger, S., Janzen, N., Sander, S., Schmidt, K. H., Bednarczyk, J., Mallunat, L., Bode, J., Hagebolling, F., Hoy, L., Lucke, T., Hass, R., and Das, A. M. Preeclampsia and HELLP Syndrome: Impaired Mitochondrial Function in Umbilical Endothelial Cells. Reprod. Sci. 17, 219-226.
-
Reprod. Sci.
, vol.17
, pp. 219-226
-
-
Illsinger, S.1
Janzen, N.2
Sander, S.3
Schmidt, K.H.4
Bednarczyk, J.5
Mallunat, L.6
Bode, J.7
Hagebolling, F.8
Hoy, L.9
Lucke, T.10
Hass, R.11
Das, A.M.12
-
74
-
-
0347091766
-
Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: Evidence of antenatal origin of brain damage and possible etiology of infantile spasms
-
Wada, N., Matsuishi, T., Nonaka, M., Naito, E., and Yoshino, M. (2004) Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms. Brain Dev. 26, 57-60.
-
(2004)
Brain Dev.
, vol.26
, pp. 57-60
-
-
Wada, N.1
Matsuishi, T.2
Nonaka, M.3
Naito, E.4
Yoshino, M.5
-
75
-
-
0029766887
-
Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex
-
Robinson, B. H., MacKay, N., Chun, K., and Ling, M. (1996) Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex. J. Inherit. Metab. Dis. 19, 452-462.
-
(1996)
J. Inherit. Metab. Dis.
, vol.19
, pp. 452-462
-
-
Robinson, B.H.1
MacKay, N.2
Chun, K.3
Ling, M.4
-
76
-
-
23044495384
-
Disorders of pyruvate metabolism and the tricarboxylic acid cycle
-
Pithukpakorn, M. (2005) Disorders of pyruvate metabolism and the tricarboxylic acid cycle. Mol. Genet. Metab. 85, 243-246.
-
(2005)
Mol. Genet. Metab.
, vol.85
, pp. 243-246
-
-
Pithukpakorn, M.1
-
77
-
-
0028073917
-
Pyruvate dehydrogenase deficiency
-
Brown, G. K., Otero, L. J., LeGris, M., and Brown, R. M. (1994) Pyruvate dehydrogenase deficiency. J. Med. Genet. 31, 875-879.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 875-879
-
-
Brown, G.K.1
Otero, L.J.2
LeGris, M.3
Brown, R.M.4
-
78
-
-
0029985716
-
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
-
Rahman, S., Blok, R. B., Dahl, H. H., Danks, D. M., Kirby, D. M., Chow, C. W., Christodoulou, J., and Thorburn, D. R. (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann. Neurol. 39, 343-351.
-
(1996)
Ann. Neurol.
, vol.39
, pp. 343-351
-
-
Rahman, S.1
Blok, R.B.2
Dahl, H.H.3
Danks, D.M.4
Kirby, D.M.5
Chow, C.W.6
Christodoulou, J.7
Thorburn, D.R.8
-
79
-
-
0025757299
-
Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency
-
Hansen, L. L., Brown, G. K., Kirby, D. M., and Dahl, H. H. (1991) Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency. J Inherit Metab Dis 14, 140-151.
-
(1991)
J Inherit Metab Dis
, vol.14
, pp. 140-151
-
-
Hansen, L.L.1
Brown, G.K.2
Kirby, D.M.3
Dahl, H.H.4
-
80
-
-
0028245704
-
Clinical diversity of pyruvate dehydrogenase deficiency
-
Cross, J. H., Connelly, A., Gadian, D. G., Kendall, B. E., Brown, G. K., Brown, R. M., and Leonard, J. V. (1994) Clinical diversity of pyruvate dehydrogenase deficiency. Pediatr Neurol 10, 276-283.
-
(1994)
Pediatr Neurol
, vol.10
, pp. 276-283
-
-
Cross, J.H.1
Connelly, A.2
Gadian, D.G.3
Kendall, B.E.4
Brown, G.K.5
Brown, R.M.6
Leonard, J.V.7
-
81
-
-
0027938052
-
Cerebral dysgenesis and lactic acidemia: An MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency
-
Shevell, M. I., Matthews, P. M., Scriver, C. R., Brown, R. M., Otero, L. J., Legris, M., Brown, G. K., and Arnold, D. L. (1994) Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency. Pediatr Neurol 11, 224-229.
-
(1994)
Pediatr Neurol
, vol.11
, pp. 224-229
-
-
Shevell, M.I.1
Matthews, P.M.2
Scriver, C.R.3
Brown, R.M.4
Otero, L.J.5
Legris, M.6
Brown, G.K.7
Arnold, D.L.8
-
82
-
-
0032985467
-
Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency
-
Rubio-Gozalbo, M. E., Heerschap, A., Trijbels, J. M., De Meirleir, L., Thijssen, H. O., and Smeitink, J. A. (1999) Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency. Magn Reson Imaging 17, 939-944.
-
(1999)
Magn Reson Imaging
, vol.17
, pp. 939-944
-
-
Rubio-Gozalbo, M.E.1
Heerschap, A.2
Trijbels, J.M.3
De Meirleir, L.4
Thijssen, H.O.5
Smeitink, J.A.6
-
83
-
-
0030047534
-
Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy
-
Harada, M., Tanouchi, M., Arai, K., Nishitani, H., Miyoshi, H., and Hashimoto, T. (1996) Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy. Magn Reson Imaging 14, 129-133.
-
(1996)
Magn Reson Imaging
, vol.14
, pp. 129-133
-
-
Harada, M.1
Tanouchi, M.2
Arai, K.3
Nishitani, H.4
Miyoshi, H.5
Hashimoto, T.6
-
84
-
-
0042974298
-
In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency
-
Zand, D. J., Simon, E. M., Pulitzer, S. B., Wang, D. J., Wang, Z. J., Rorke, L. B., Palmieri, M., and Berry, G. T. (2003) In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency. AJNR Am J Neuroradiol 24, 1471-1474.
-
(2003)
AJNR Am J Neuroradiol
, vol.24
, pp. 1471-1474
-
-
Zand, D.J.1
Simon, E.M.2
Pulitzer, S.B.3
Wang, D.J.4
Wang, Z.J.5
Rorke, L.B.6
Palmieri, M.7
Berry, G.T.8
-
85
-
-
0034951326
-
Clinical spectrum and diagnosis of mitochondrial disorders
-
Munnich, A. and Rustin, P. (2001) Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet 106, 4-17.
-
(2001)
Am J Med Genet
, vol.106
, pp. 4-17
-
-
Munnich, A.1
Rustin, P.2
-
86
-
-
0026680299
-
Clinical aspects of mitochondrial disorders
-
Munnich, A., Rustin, P., Rotig, A., Chretien, D., Bonnefont, J. P., Nuttin, C., Cormier, V., Vassault, A., Parvy, P., Bardet, J., and et al. (1992) Clinical aspects of mitochondrial disorders. J Inherit Metab Dis 15, 448-455.
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 448-455
-
-
Munnich, A.1
Rustin, P.2
Rotig, A.3
Chretien, D.4
Bonnefont, J.P.5
Nuttin, C.6
Cormier, V.7
Vassault, A.8
Parvy, P.9
Bardet, J.10
-
87
-
-
58149159261
-
Mitochondrial oxidative phosphorylation disorders presenting in neonates: Clinical manifestations and enzymatic and molecular diagnoses
-
Gibson, K., Halliday, J. L., Kirby, D. M., Yaplito-Lee, J., Thorburn, D. R., and Boneh, A. (2008) Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses. Pediatrics 122, 1003-1008.
-
(2008)
Pediatrics
, vol.122
, pp. 1003-1008
-
-
Gibson, K.1
Halliday, J.L.2
Kirby, D.M.3
Yaplito-Lee, J.4
Thorburn, D.R.5
Boneh, A.6
-
88
-
-
0041331636
-
Antenatal manifestations of mitochondrial respiratory chain deficiency
-
DOI 10.1067/S0022-3476(03)00130-6
-
von Kleist-Retzow, J. C., Cormier-Daire, V., Viot, G., Goldenberg, A., Mardach, B., Amiel, J., Saada, P., Dumez, Y., Brunelle, F., Saudubray, J. M., Chretien, D., Rotig, A., Rustin, P., Munnich, A., and De Lonlay, P. (2003) Antenatal manifestations of mitochondrial respiratory chain deficiency. J. Pediatr. 143, 208-212. (Pubitemid 37082953)
-
(2003)
Journal of Pediatrics
, vol.143
, Issue.2
, pp. 208-212
-
-
Von Kleist-Retzow, J.-C.1
Cormier-Daire, V.2
Viot, G.3
Goldenberg, A.4
Mardach, B.5
Amiel, J.6
Saada, P.7
Dumez, Y.8
Brunelle, F.9
Saudubray, J.-M.10
Chretien, D.11
Rotig, A.12
Rustin, P.13
Munnich, A.14
De Lonlay, P.15
-
89
-
-
0036254695
-
Mitochondrial energy metabolism in very premature neonates
-
Wenchich, L., Zeman, J., Hansikova, H., Plavka, R., Sperl, W., and Houstek, J. (2002) Mitochondrial energy metabolism in very premature neonates. Biol. Neonate. 81, 229-235.
-
(2002)
Biol. Neonate.
, vol.81
, pp. 229-235
-
-
Wenchich, L.1
Zeman, J.2
Hansikova, H.3
Plavka, R.4
Sperl, W.5
Houstek, J.6
-
90
-
-
0033898736
-
Heart mitochondrial DNA and enzyme changes during early human development
-
Marin-Garcia, J., Ananthakrishnan, R., and Goldenthal, M. J. (2000) Heart mitochondrial DNA and enzyme changes during early human development. Mol. Cell Biochem. 210, 47-52.
-
(2000)
Mol. Cell Biochem.
, vol.210
, pp. 47-52
-
-
Marin-Garcia, J.1
Ananthakrishnan, R.2
Goldenthal, M.J.3
-
91
-
-
41949132639
-
Mitochondrial respiratory chain complex as sembly and function during human fetal development
-
Minai, L., Martinovic, J., Chretien, D., Dumez, F., Razavi, F., Munnich, A., and Rotig, A. (2008) Mitochondrial respiratory chain complex as sembly and function during human fetal development. Mol. Genet. Metab. 94, 120-126.
-
(2008)
Mol. Genet. Metab.
, vol.94
, pp. 120-126
-
-
Minai, L.1
Martinovic, J.2
Chretien, D.3
Dumez, F.4
Razavi, F.5
Munnich, A.6
Rotig, A.7
-
92
-
-
34547839596
-
Mitochondrial differentiation and oxidative phosphorylation system capacity in rat embryo during placentation period
-
Alcolea, M. P., Colom, B., Llado, I., Garcia-Palmer, F. J., and Gianotti, M. (2007) Mitochondrial differentiation and oxidative phosphorylation system capacity in rat embryo during placentation period. Reproduction 134, 147-154.
-
(2007)
Reproduction
, vol.134
, pp. 147-154
-
-
Alcolea, M.P.1
Colom, B.2
Llado, I.3
Garcia-Palmer, F.J.4
Gianotti, M.5
-
93
-
-
0030581498
-
Mitochondrial oxidative phosphorylation changes in the life span. Molecular aspects and physiopathological implications
-
Papa, S. (1996) Mitochondrial oxidative phosphorylation changes in the life span. Molecular aspects and physiopathological implications. Biochim. Biophys. Acta. 1276, 87-105.
-
(1996)
Biochim. Biophys. Acta.
, vol.1276
, pp. 87-105
-
-
Papa, S.1
-
94
-
-
0025313880
-
Postnatal mitochondrial differentiation in rat liver. Regulation by thyroid hormones of the beta-subunit of the mitochondrial F1-ATPase complex
-
Izquierdo, J. M., Luis, A. M., and Cuezva, J. M. (1990) Postnatal mitochondrial differentiation in rat liver. Regulation by thyroid hormones of the beta-subunit of the mitochondrial F1-ATPase complex. J. Biol. Chem. 265, 9090-9097.
-
(1990)
J. Biol. Chem.
, vol.265
, pp. 9090-9097
-
-
Izquierdo, J.M.1
Luis, A.M.2
Cuezva, J.M.3
-
95
-
-
0028925584
-
Both nuclear and mitochondrial cytochrome c oxidase mRNA levels increase dramatically during mouse postnatal development
-
Kim, K., Lecordier, A., and Bowman, L. H. (1995) Both nuclear and mitochondrial cytochrome c oxidase mRNA levels increase dramatically during mouse postnatal development. Biochem. J. 306(Pt 2), 353-358.
-
(1995)
Biochem. J.
, vol.306
, Issue.PART 2
, pp. 353-358
-
-
Kim, K.1
Lecordier, A.2
Bowman, L.H.3
-
96
-
-
0023951073
-
Mitochondrial myopathies and respiratory chain proteins
-
Capaldi, R. A. (1988) Mitochondrial myopathies and respiratory chain proteins. Trends Biochem. Sci. 13, 144-148.
-
(1988)
Trends Biochem. Sci.
, vol.13
, pp. 144-148
-
-
Capaldi, R.A.1
-
97
-
-
0023084648
-
Benign reversible muscle cytochrome c oxidase deficiency: A second case
-
Zeviani, M., Peterson, P., Servidei, S., Bonilla, E., and DiMauro, S. (1987) Benign reversible muscle cytochrome c oxidase deficiency: a second case. Neurology 37, 64-67.
-
(1987)
Neurology
, vol.37
, pp. 64-67
-
-
Zeviani, M.1
Peterson, P.2
Servidei, S.3
Bonilla, E.4
DiMauro, S.5
-
98
-
-
53449088957
-
Reversible multiorgan system involvement in a neonate with complex IV deficiency
-
Low, E., Crushell, E. B., Harty, S. B., Ryan, S. P., and Treacy, E. P. (2008) Reversible multiorgan system involvement in a neonate with complex IV deficiency. Pediatr. Neurol. 39, 368-370.
-
(2008)
Pediatr. Neurol.
, vol.39
, pp. 368-370
-
-
Low, E.1
Crushell, E.B.2
Harty, S.B.3
Ryan, S.P.4
Treacy, E.P.5
-
99
-
-
50149105444
-
Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome
-
Engelmann, G., Meyburg, J., Shahbek, N., Al-Ali, M., Hairetis, M. H., Baker, A. J., Rodenburg, R. J., Wenning, D., Flechtenmacher, C., Ellard, S., Smeitink, J. A., Hoffmann, G. F., and Buchanan, C. R. (2008) Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome. J. Inherit. Metab. Dis. 31, 540-546.
-
(2008)
J. Inherit. Metab. Dis.
, vol.31
, pp. 540-546
-
-
Engelmann, G.1
Meyburg, J.2
Shahbek, N.3
Al-Ali, M.4
Hairetis, M.H.5
Baker, A.J.6
Rodenburg, R.J.7
Wenning, D.8
Flechtenmacher, C.9
Ellard, S.10
Smeitink, J.A.11
Hoffmann, G.F.12
Buchanan, C.R.13
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