-
1
-
-
0019499706
-
Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency
-
Bougneres PF, Saudubray JM, Marsac C, Bernard O, Odievre M, Girard J (1981) Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency. J Pediatr 98:742–746
-
(1981)
J Pediatr
, vol.98
, pp. 742-746
-
-
Bougneres, P.F.1
Saudubray, J.M.2
Marsac, C.3
Bernard, O.4
Odievre, M.5
Girard, J.6
-
2
-
-
61849127281
-
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian aboriginal populations
-
Greenberg CR, Dilling LA, Thompson GR et al (2009) The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian aboriginal populations. Mol Genet Metab 96:201–207
-
(2009)
Mol Genet Metab
, vol.96
, pp. 201-207
-
-
Greenberg, C.R.1
Dilling, L.A.2
Thompson, G.R.3
-
3
-
-
0032845048
-
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia
-
Ibdah JA, Dasouki MJ, Strauss AW (1999) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. J Inherit Metab Dis 22:811–814
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 811-814
-
-
Ibdah, J.A.1
Dasouki, M.J.2
Strauss, A.W.3
-
4
-
-
0035107321
-
Features of carnitine palmitoyltransferase type I deficiency
-
Olpin SE, Allen J, Bonham JR et al (2001) Features of carnitine palmitoyltransferase type I deficiency. J Inherit Metab Dis 24:35–42
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 35-42
-
-
Olpin, S.E.1
Allen, J.2
Bonham, J.R.3
-
5
-
-
9344262376
-
Bile secretory function in the obese Zucker rat: Evidence of cholestasis and altered canalicular transport function
-
Pizarro M, Balasubramaniyan N, Solis N et al (2004) Bile secretory function in the obese Zucker rat: evidence of cholestasis and altered canalicular transport function. Gut 53:1837–1843
-
(2004)
Gut
, vol.53
, pp. 1837-1843
-
-
Pizarro, M.1
Balasubramaniyan, N.2
Solis, N.3
-
6
-
-
0033004986
-
Recognition and management of fatty acid oxidation defects: A series of 107 patients
-
Saudubray JM, Martin D, de Lonlay P et al (1999) Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis 22:488–502
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 488-502
-
-
Saudubray, J.M.1
Martin, D.2
de Lonlay, P.3
-
7
-
-
0031981027
-
Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
-
Tyni T, Ekholm E, 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
-
8
-
-
0030775662
-
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients
-
Tyni T, Palotie A, Viinikka L et al (1997) Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. J Pediatr 130:67–76
-
(1997)
J Pediatr
, vol.130
, pp. 67-76
-
-
Tyni, T.1
Palotie, A.2
Viinikka, L.3
-
9
-
-
79958051796
-
Abnormal liver chemistry in patients with influenza A H1N1
-
Yingying C (2011) Abnormal liver chemistry in patients with influenza A H1N1. Liver Int 31:902
-
(2011)
Liver Int
, vol.31
, pp. 902
-
-
Yingying, C.1
|