-
1
-
-
33750949788
-
Acute pediatric rhabdomyolysis: Causes and rates of renal failure
-
DOI 10.1542/peds.2006-1352
-
Mannix R, Tan ML, Wright R, et al. Acute pediatric rhabdomyolysis: causes and rates of renal failure. Pediatrics 2006;118:2119-2125. (Pubitemid 46393696)
-
(2006)
Pediatrics
, vol.118
, Issue.5
, pp. 2119-2125
-
-
Mannix, R.1
Tan, M.L.2
Wright, R.3
Baskin, M.4
-
2
-
-
77957593707
-
Newborn screening for disorders of fatty-acid oxidation: Experience and recommendations from an expert meeting
-
Lindner M, Hoffmann GF, Matern D. Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. J Inherit Metab Dis 2010;33:521-526.
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 521-526
-
-
Lindner, M.1
Hoffmann, G.F.2
Matern, D.3
-
3
-
-
82255179325
-
A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence
-
Yagi M, Lee T, Awano H, et al. A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence. Mol Genet Metab 2011;104:556-559.
-
(2011)
Mol Genet Metab
, vol.104
, pp. 556-559
-
-
Yagi, M.1
Lee, T.2
Awano, H.3
-
4
-
-
0037903252
-
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to -subunit mutations
-
DOI 10.1002/humu.10211
-
Spiekerkoetter U, Sun B, Khuchua Z, et al. Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Hum Mutat 2003;21:598-607. (Pubitemid 36667350)
-
(2003)
Human Mutation
, vol.21
, Issue.6
, pp. 598-607
-
-
Spiekerkoetter, U.1
Sun, B.2
Khuchua, Z.3
Bennett, M.J.4
Strauss, A.W.5
-
5
-
-
77957560919
-
Mitochondrial fatty acid oxidation disorders: Clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening
-
Spiekerkoetter U. Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening. J Inherit Metab Dis 2010;33:527-532.
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 527-532
-
-
Spiekerkoetter, U.1
-
6
-
-
19444367222
-
Neonatal screening for defects of the mitochondrial trifunctional protein
-
DOI 10.1016/j.ymgme.2005.02.002, PII S109671920500051X
-
Sander J, Sander S, Steuerwald U, et al. Neonatal screening for defects of the mitochondrial trifunctional protein. Mol Genet Metab 2005;85:108-114. (Pubitemid 40724535)
-
(2005)
Molecular Genetics and Metabolism
, vol.85
, Issue.2
, pp. 108-114
-
-
Sander, J.1
Sander, S.2
Steuerwald, U.3
Janzen, N.4
Peter, M.5
Wanders, R.J.A.6
Marquardt, I.7
Korenke, G.C.8
Das, A.M.9
-
7
-
-
0038132933
-
Mitochondrial trifunctional protein deficiency: A severe fatty acid oxidation disorder with cardiac and neurologic involvement
-
DOI 10.1067/mpd.2003.231
-
den Boer ME, Dionisi-Vici C, Chakrapani A, et al. Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. J Pediatr 2003;142:684-689. (Pubitemid 36737173)
-
(2003)
Journal of Pediatrics
, vol.142
, Issue.6
, pp. 684-689
-
-
Den Boer, M.E.J.1
Dionisi-Vici, C.2
Chakrapani, A.3
Van Thuijl, A.O.J.4
Wanders, R.J.A.5
Wijburg, F.A.6
-
8
-
-
44649201001
-
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A cross-sectional study with long-term follow-up
-
DOI 10.1111/j.1600-0420.2007.01121.x
-
Fahnehjelm KT, Holmström G, Ying L, et al. Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: across-sectional study with long-term follow-up. Acta Ophthalmol 2008;86: 329-337. (Pubitemid 351790218)
-
(2008)
Acta Ophthalmologica
, vol.86
, Issue.3
, pp. 329-337
-
-
Fahnehjelm, K.T.1
Holmstrom, G.2
Ying, L.3
Haglind, C.B.4
Nordenstrom, A.5
Halldin, M.6
Alm, J.7
Nemeth, A.8
Von Dobeln, U.9
-
9
-
-
33747011078
-
Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency
-
DOI 10.1016/j.ymgme.2006.06.004, PII S1096719206002174
-
Gillingham MB, Scott B, Elliott D, et al. Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Mol Genet Metab 2006;89:58-63. (Pubitemid 44205484)
-
(2006)
Molecular Genetics and Metabolism
, vol.89
, Issue.1-2
, pp. 58-63
-
-
Gillingham, M.B.1
Scott, B.2
Elliott, D.3
Harding, C.O.4
-
10
-
-
4243325434
-
Novel OCTN2 mutations: No genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy
-
DOI 10.1002/ajmg.10585
-
Lamhonwah AM, Olpin SE, Pollitt RJ, et al. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. Am J Med Genet 2002;111:271-284. (Pubitemid 34815450)
-
(2002)
American Journal of Medical Genetics
, vol.111
, Issue.3
, pp. 271-284
-
-
Lamhonwah, A.-M.1
Olpin, S.E.2
Pollitt, R.J.3
Vianey-Saban, C.4
Divry, P.5
Guffon, N.6
Besley, G.T.N.7
Onizuka, R.8
De Meirleir, L.J.9
Cvitanovic-Sojat, L.10
Baric, I.11
Dionisi-Vici, C.12
Fumic, K.13
Maradin, M.14
Tein, I.15
|