-
1
-
-
85046526399
-
Incidence of inborn errors of metabolism in British Columbia, 1969-1996
-
e10
-
Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 2000;47:105 (e10).
-
(2000)
Pediatrics
, vol.47
, pp. 105
-
-
Applegarth, D.A.1
Toone, J.R.2
Lowry, R.B.3
-
2
-
-
0034034321
-
Inborn errors of metabolism and pregnancy
-
Walter JH. Inborn errors of metabolism and pregnancy. J Inherit Metab Dis 2000;23:229-236.
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 229-236
-
-
Walter, J.H.1
-
3
-
-
0032771090
-
Folic acid and homocyst(e)ine metabolic defects and the risk of placental abruption, pre-eclampsia and spontaneous pregnancy loss: A systematic review
-
Ray JG, Laskin CA. Folic acid and homocyst(e)ine metabolic defects and the risk of placental abruption, pre-eclampsia and spontaneous pregnancy loss: a systematic review. Placenta 1999;20:519-529.
-
(1999)
Placenta
, vol.20
, pp. 519-529
-
-
Ray, J.G.1
Laskin, C.A.2
-
4
-
-
0033503862
-
Nonsyndromic orofacial clefts: Association with maternal hyperhomocysteinemia
-
Wong W, Eskes TKAB, Kuijpers-Jagtman AM, et al. Nonsyndromic orofacial clefts: association with maternal hyperhomocysteinemia. Teratology 1999;60:253-257.
-
(1999)
Teratology
, vol.60
, pp. 253-257
-
-
Wong, W.1
Eskes, T.K.A.B.2
Kuijpers-Jagtman, A.M.3
-
5
-
-
0034073977
-
Plasma total homocysteine, pregnancy complications, and adverse pregnancy outcomes: The Hordaland homocystein study
-
Vollset SE, Refsum H, Irgens LM, et al. Plasma total homocysteine, pregnancy complications, and adverse pregnancy outcomes: the Hordaland homocystein study. Am J Clin Nutr 2000;71:962-968.
-
(2000)
Am J Clin Nutr
, vol.71
, pp. 962-968
-
-
Vollset, S.E.1
Refsum, H.2
Irgens, L.M.3
-
6
-
-
0030463010
-
Homocysteine induces congenital defects of the heart and neural tube: Effect of folic acid
-
Rosenquist TH, Ratashak SA, Selhub J. Homocysteine induces congenital defects of the heart and neural tube: effect of folic acid. Proc Natl Acad Sci USA 1996;93:15227-15232.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 15227-15232
-
-
Rosenquist, T.H.1
Ratashak, S.A.2
Selhub, J.3
-
7
-
-
0029908490
-
A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy
-
Schimanski U, Krieger D, Horn M, Stremmel W, Wermuth B, Theilmann L. A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy. Hepatology 1996;24:1413-1415.
-
(1996)
Hepatology
, vol.24
, pp. 1413-1415
-
-
Schimanski, U.1
Krieger, D.2
Horn, M.3
Stremmel, W.4
Wermuth, B.5
Theilmann, L.6
-
8
-
-
0028158840
-
Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency
-
Wong L-JC, Craigen WJ, O'Brien WE. Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency. Ann Intern Med 1994;120:216-217.
-
(1994)
Ann Intern Med
, vol.120
, pp. 216-217
-
-
Wong, L.-J.C.1
Craigen, W.J.2
O'Brien, W.E.3
-
9
-
-
0025296601
-
Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus
-
Arn PH, Hauser ER, Thomas GH, Herman G, Hess D, Brusilow SW. Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. N Engl J Med 1990;322:1652-1655.
-
(1990)
N Engl J Med
, vol.322
, pp. 1652-1655
-
-
Arn, P.H.1
Hauser, E.R.2
Thomas, G.H.3
Herman, G.4
Hess, D.5
Brusilow, S.W.6
-
10
-
-
0019156116
-
Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies
-
Lenke RL, Levy HL. Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N Engl J Med 1980;303:1202-1208.
-
(1980)
N Engl J Med
, vol.303
, pp. 1202-1208
-
-
Lenke, R.L.1
Levy, H.L.2
-
11
-
-
0035037211
-
Congenital heart disease from the maternal PKU collaborative study
-
Levy HL, Guldberg P, Güttler F, et al. Congenital heart disease from the maternal PKU collaborative study. Pediatr Res 2001;49:636-642.
-
(2001)
Pediatr Res
, vol.49
, pp. 636-642
-
-
Levy, H.L.1
Guldberg, P.2
Güttler, F.3
-
12
-
-
0023640629
-
Timing of strict diet in relation to fetal damage in maternal PKU study
-
Drogari E, Smith I, Beasly M, Lloyd JK. Timing of strict diet in relation to fetal damage in maternal PKU study. Lancet 1987;ii:927-930.
-
(1987)
Lancet
, vol.2
, pp. 927-930
-
-
Drogari, E.1
Smith, I.2
Beasly, M.3
Lloyd, J.K.4
-
13
-
-
0029786550
-
German maternal phenylketonuria study
-
Cipcic-Schmidt S, Trefz FK, Fünders-Bücker B, Seidlitz G, Ullrich K. German maternal phenylketonuria study. Eur J Pediatr 1996;155(Suppl 1):S173-S176.
-
(1996)
Eur J Pediatr
, vol.155
, Issue.SUPPL. 1
-
-
Cipcic-Schmidt, S.1
Trefz, F.K.2
Fünders-Bücker, B.3
Seidlitz, G.4
Ullrich, K.5
-
14
-
-
17744414618
-
The international collaborative study of maternal phenylketonuria
-
Koch R, Friedman E, Azen C, et al. The international collaborative study of maternal phenylketonuria. Eur J Pediatr 2000;159(Suppl 2):S156-S160.
-
(2000)
Eur J Pediatr
, vol.159
, Issue.SUPPL. 2
-
-
Koch, R.1
Friedman, E.2
Azen, C.3
-
15
-
-
0027533685
-
Recommendations on the dietary management of phenylketonuria
-
Anonymous. Recommendations on the dietary management of phenylketonuria. Arch Dis Child 1993;68:426-427.
-
(1993)
Arch Dis Child
, vol.68
, pp. 426-427
-
-
-
16
-
-
11844265152
-
Blood phenylalanine control in the maternal PKU study-influence of dietary control on offspring outcome in early treated women with PKU
-
Trefz FK. Blood phenylalanine control in the maternal PKU study-influence of dietary control on offspring outcome in early treated women with PKU. J Inherit Metab Dis 2002;25:621.
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 621
-
-
Trefz, F.K.1
-
17
-
-
0031912684
-
Tyrosine supplementation in the treatment of maternal phenylketonuria
-
Rohr FJ, Lobbregt D, Levy HL. Tyrosine supplementation in the treatment of maternal phenylketonuria. Am J Clin Nutr 1998;67:473-476.
-
(1998)
Am J Clin Nutr
, vol.67
, pp. 473-476
-
-
Rohr, F.J.1
Lobbregt, D.2
Levy, H.L.3
-
18
-
-
0035143874
-
Phenylketonuria: Tyrosine supplementation in the phenylalanine restricted diet
-
van Spronsen FJ, van Rijn M, Bekhof J, Koch R, Smit GPA. Phenylketonuria: tyrosine supplementation in the phenylalanine restricted diet. Am J Clin Nutr 2001;73:153-157.
-
(2001)
Am J Clin Nutr
, vol.73
, pp. 153-157
-
-
Van Spronsen, F.J.1
Van Rijn, M.2
Bekhof, J.3
Koch, R.4
Smit, G.P.A.5
-
19
-
-
0025856734
-
Prevalence of congenital heart disease in phenylketonuric patients
-
Verkerk PH, van Spronsen FJ, Smit GPA, Cornel MC, Kuipers JRG, Verloove-Vanhorick SP. Prevalence of congenital heart disease in phenylketonuric patients. J Pediatr 1991;119:282-283.
-
(1991)
J Pediatr
, vol.119
, pp. 282-283
-
-
Verkerk, P.H.1
Van Spronsen, F.J.2
Smit, G.P.A.3
Cornel, M.C.4
Kuipers, J.R.G.5
Verloove-Vanhorick, S.P.6
-
20
-
-
0028015610
-
Impaired prenatal and postnatal growth in Dutch patients with phenylketonuria
-
Verkerk PH, van Spronsen FJ, Smit GPA, Sengers RCA, on behalf of the National PKU Steering Committee. Impaired prenatal and postnatal growth in Dutch patients with phenylketonuria. Arch Dis Child 1994;71:114-118.
-
(1994)
Arch Dis Child
, vol.71
, pp. 114-118
-
-
Verkerk, P.H.1
Van Spronsen, F.J.2
Smit, G.P.A.3
Sengers, R.C.A.4
-
21
-
-
0025507756
-
Birth weight and pathogenesis in phenylketonuria
-
Crockett DJ, Woolf LI, McBean MS, Woolf FM, Cahalane SF. Birth weight and pathogenesis in phenylketonuria. Int J Neurosci 1990;54:259-266.
-
(1990)
Int J Neurosci
, vol.54
, pp. 259-266
-
-
Crockett, D.J.1
Woolf, L.I.2
McBean, M.S.3
Woolf, F.M.4
Cahalane, S.F.5
-
22
-
-
0036689453
-
Pregnancy and tyrosinaemia type II
-
Cerone R, Fantasia AR, Castellano E, Moresco L, Schiaffino MC, Gatti R. Pregnancy and tyrosinaemia type II. J Inherit Metab Dis 2002;25:317-318.
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 317-318
-
-
Cerone, R.1
Fantasia, A.R.2
Castellano, E.3
Moresco, L.4
Schiaffino, M.C.5
Gatti, R.6
-
23
-
-
0026517025
-
Maternal tyrosinemia II: Management and successful outcome
-
Francis DEM, Kirby DM, Thompson GN. Maternal tyrosinemia II: management and successful outcome. Eur J Pediatr 1992;151:196-199.
-
(1992)
Eur J Pediatr
, vol.151
, pp. 196-199
-
-
Francis, D.E.M.1
Kirby, D.M.2
Thompson, G.N.3
-
24
-
-
0028796489
-
Lysinuric protein intolerance in pregnancy: Case report with successful outcome
-
Takayama N, Hamada H, Kubo T. Lysinuric protein intolerance in pregnancy: case report with successful outcome. Arch Gynecol Obstet 1995;256:49-52.
-
(1995)
Arch Gynecol Obstet
, vol.256
, pp. 49-52
-
-
Takayama, N.1
Hamada, H.2
Kubo, T.3
-
25
-
-
0021638081
-
Maternal isovaleric acidemia
-
Shih VE, Aubry RH, DeGrande G, Gursky SF, Tanaka K. Maternal isovaleric acidemia. J Pediatr 1984;105:77-78.
-
(1984)
J Pediatr
, vol.105
, pp. 77-78
-
-
Shih, V.E.1
Aubry, R.H.2
Degrande, G.3
Gursky, S.F.4
Tanaka, K.5
-
26
-
-
0026482188
-
Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia
-
van Calcar SC, Harding CO, Davidson SR, Barness LA, Wolff JA. Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia. Am J Med Genet 1992;44:641-646.
-
(1992)
Am J Med Genet
, vol.44
, pp. 641-646
-
-
Calcar, S.C.1
Harding, C.O.2
Davidson, S.R.3
Barness, L.A.4
Wolff, J.A.5
-
27
-
-
0028904860
-
Methylmalonic aciduria in pregnancy. A case report
-
Diss E, Jams J, Reed N, Roe DS, Roe C. Methylmalonic aciduria in pregnancy. A case report. Am Obstet Gynecol 1995;172:1057-1059.
-
(1995)
Am Obstet Gynecol
, vol.172
, pp. 1057-1059
-
-
Diss, E.1
Jams, J.2
Reed, N.3
Roe, D.S.4
Roe, C.5
-
29
-
-
0030610123
-
Modulation of B12 dosage and response in fetal treatment of methylmalonic aciduria (MMA): Titration of treatment dose to serum and urine MMA
-
Evans MI, Duquette DA, Rinaldo P, et al. Modulation of B12 dosage and response in fetal treatment of methylmalonic aciduria (MMA): titration of treatment dose to serum and urine MMA. Fetal Diagn Ther 1997;12:21-23.
-
(1997)
Fetal Diagn Ther
, vol.12
, pp. 21-23
-
-
Evans, M.I.1
Duquette, D.A.2
Rinaldo, P.3
-
30
-
-
0001617531
-
Dietary management of glycogen storage disease 1a patients in pregnancy
-
Van Rijn M, Huitema S, Rake JP, et al. Dietary management of glycogen storage disease 1a patients in pregnancy. J Inherit Metab Dis 2000;23(Suppl 1):162.
-
(2000)
J Inherit Metab Dis
, vol.23
, Issue.SUPPL. 1
, pp. 162
-
-
Van Rijn, M.1
Huitema, S.2
Rake, J.P.3
-
31
-
-
0001969912
-
Glycogen storage diseases
-
Fernandes J, Saudubray JM, van den Berghe G, editors. Heidelberg: Springer
-
Fernandes J, Smit GPA. Glycogen storage diseases. In: Fernandes J, Saudubray JM, van den Berghe G, editors. Inborn Metabolic Diseases. Diagnosis and Treatment, 3rd edition. Heidelberg: Springer, 2000: 87-101.
-
(2000)
Inborn Metabolic Diseases. Diagnosis and Treatment, 3rd Edition
, pp. 87-101
-
-
Fernandes, J.1
Smit, G.P.A.2
-
32
-
-
0346207591
-
Disorders of galactose metabolism
-
Fernandes J, Saudubray JM, van den Berghe G, editors. Heidelberg: Springer
-
Gitzelmann R. Disorders of galactose metabolism. In: Fernandes J, Saudubray JM, van den Berghe G, editors. Inborn Metabolic Diseases. Diagnosis and Treatment, 3rd edition. Heidelberg: Springer, 2000: 103-109.
-
(2000)
Inborn Metabolic Diseases. Diagnosis and Treatment, 3rd Edition
, pp. 103-109
-
-
Gitzelmann, R.1
-
33
-
-
0025648036
-
Long-term prognosis in galactosaemia: Results of a survey of 350 cases
-
Waggoner DD, Buist NR, Donnell GN. Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis 1990;13:802-818.
-
(1990)
J Inherit Metab Dis
, vol.13
, pp. 802-818
-
-
Waggoner, D.D.1
Buist, N.R.2
Donnell, G.N.3
-
34
-
-
0032788521
-
Mitochondrial myopathy in a primagravid pregnancy
-
Blake LL, Sha R. Mitochondrial myopathy in a primagravid pregnancy. Br J Obstet Gynaecol 1999;106:871-873.
-
(1999)
Br J Obstet Gynaecol
, vol.106
, pp. 871-873
-
-
Blake, L.L.1
Sha, R.2
-
35
-
-
0032151603
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with deterioration during pregnancy
-
Yanagawa T, Sakaguchi H, Nakao T, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with deterioration during pregnancy. Intern Med 1998;37:780-783.
-
(1998)
Intern Med
, vol.37
, pp. 780-783
-
-
Yanagawa, T.1
Sakaguchi, H.2
Nakao, T.3
-
36
-
-
0025189723
-
Mitochondrial myopathy and preeclampsia associated with pregnancy
-
Berkowitz K, Monteagudo A, Marks F, Jackson U, Baxi L. Mitochondrial myopathy and preeclampsia associated with pregnancy. Am J Obstet Gynecol 1990;162:146-147.
-
(1990)
Am J Obstet Gynecol
, vol.162
, pp. 146-147
-
-
Berkowitz, K.1
Monteagudo, A.2
Marks, F.3
Jackson, U.4
Baxi, L.5
-
37
-
-
0028242830
-
Carnitine palmitoyl transferase deficiency in pregnancy: A case report
-
Dreval D, Bernstein D, Zakut H. Carnitine palmitoyl transferase deficiency in pregnancy: a case report. Am J Obstet Gynecol 1994;170:1390-1392.
-
(1994)
Am J Obstet Gynecol
, vol.170
, pp. 1390-1392
-
-
Dreval, D.1
Bernstein, D.2
Zakut, H.3
-
38
-
-
0029803779
-
Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency
-
Treem WR, Shoup ME, Hale DE, et al. Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Am J Gastroenterol 1996;91:2293-2300.
-
(1996)
Am J Gastroenterol
, vol.91
, pp. 2293-2300
-
-
Treem, W.R.1
Shoup, M.E.2
Hale, D.E.3
-
39
-
-
0038177998
-
Human placenta metabolizes fatty acids: Implications for fetal fatty acid oxidation disorders and maternal liver diseases
-
Shekahawat P, Bennet MJ, Sadovsky Y, Nelson DM, Rakheja D, Strauss AW. Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases. Am J Physiol Endocrinol Metab 2003;284:E1098-E1105.
-
(2003)
Am J Physiol Endocrinol Metab
, vol.284
-
-
Shekahawat, P.1
Bennet, M.J.2
Sadovsky, Y.3
Nelson, D.M.4
Rakheja, D.5
Strauss, A.W.6
-
40
-
-
0023110671
-
Endocrine studies of the ovulatory disturbances in Wilson's disease
-
Kaushansky A, Frydman M, Kaufman R. Endocrine studies of the ovulatory disturbances in Wilson's disease. Fertil Steril 1987;47:270-273.
-
(1987)
Fertil Steril
, vol.47
, pp. 270-273
-
-
Kaushansky, A.1
Frydman, M.2
Kaufman, R.3
-
44
-
-
0034467971
-
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency
-
De Koning TJ, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van der Knaap MS. Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency. Neuropediatrics 2000;31:287-292.
-
(2000)
Neuropediatrics
, vol.31
, pp. 287-292
-
-
De Koning, T.J.1
Jaeken, J.2
Pineda, M.3
Van Maldergem, L.4
Poll-The, B.T.5
Van Der Knaap, M.S.6
-
45
-
-
0031044525
-
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism
-
Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelly RI. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet 1997;68:263-269.
-
(1997)
Am J Med Genet
, vol.68
, pp. 263-269
-
-
Cunniff, C.1
Kratz, L.E.2
Moser, A.3
Natowicz, M.R.4
Kelly, R.I.5
-
46
-
-
0015267348
-
Cerebro-hepato-renal syndrome of Zellweger: An inherited disorder of neuronal migration
-
Volpe JJ, Adams RD. Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration. Acta Neuropathol 1972;20:175-198.
-
(1972)
Acta Neuropathol
, vol.20
, pp. 175-198
-
-
Volpe, J.J.1
Adams, R.D.2
-
47
-
-
0027529504
-
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria
-
Hoffmann GF, Charpentier C, Mayatepek E, et al. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 1993;91:915-921.
-
(1993)
Pediatrics
, vol.91
, pp. 915-921
-
-
Hoffmann, G.F.1
Charpentier, C.2
Mayatepek, E.3
-
48
-
-
0033037717
-
Mutations in a deltha 8 deltha 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata
-
Derry JMJ, Gormally E, Means GD, et al. Mutations in a deltha 8 deltha 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat Genet 1999;22:286-290.
-
(1999)
Nat Genet
, vol.22
, pp. 286-290
-
-
Derry, J.M.J.1
Gormally, E.2
Means, G.D.3
-
49
-
-
0036905546
-
Prenatal diagnosis of hypoplasia of the corpus callosum in association with non-ketotic hyperglycinemia
-
Paupe A, Bidat L, Sonigo P, Lenclen R, Molho M, Ville Y. Prenatal diagnosis of hypoplasia of the corpus callosum in association with non-ketotic hyperglycinemia. Ultrasound Obstet Gynecol 2002;20:616-619.
-
(2002)
Ultrasound Obstet Gynecol
, vol.20
, pp. 616-619
-
-
Paupe, A.1
Bidat, L.2
Sonigo, P.3
Lenclen, R.4
Molho, M.5
Ville, Y.6
-
50
-
-
0027310580
-
Pyruvate dehydrogenase deficiency; clinical and biochemical diagnosis
-
deMeirler L, Lissens W, Denis R, et al. Pyruvate dehydrogenase deficiency; clinical and biochemical diagnosis. Pediatr Neurol 1993;9:216-220.
-
(1993)
Pediatr Neurol
, vol.9
, pp. 216-220
-
-
Meirler, L.1
Lissens, W.2
Denis, R.3
-
51
-
-
0029080735
-
Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys
-
North KN, Hoppel CL, De Girolami U, Kozakewich HPW, Korson MS. Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. J Pediatr 1995;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.W.4
Korson, M.S.5
-
52
-
-
0035425592
-
Antenatal presentation of carnitine palmitoyltransferase II deficiency
-
Elpeleg ON, Hammerman C, Saada A, et al. Antenatal presentation of carnitine palmitoyltransferase II deficiency. Am J Med Genet 2001;102:183-187.
-
(2001)
Am J Med Genet
, vol.102
, pp. 183-187
-
-
Elpeleg, O.N.1
Hammerman, C.2
Saada, A.3
-
53
-
-
0019961172
-
Betha-hydroxyisobutyryl coenzyme a deacylase deficiency: A defect in valine metabolism associated with physical malformations
-
Brown GK, Hunt SM, Scholem R, et al. Betha-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations. Pediatrics 1982;70:532-538.
-
(1982)
Pediatrics
, vol.70
, pp. 532-538
-
-
Brown, G.K.1
Hunt, S.M.2
Scholem, R.3
-
54
-
-
0033033425
-
Pontocerebellar hypoplasia associated with respiratory chain defects
-
de Koning TJ, de Vries LS, Groendendaal F, et al. Pontocerebellar hypoplasia associated with respiratory chain defects. Neuropaediatrics 1999;30:93-95.
-
(1999)
Neuropaediatrics
, vol.30
, pp. 93-95
-
-
De Koning, T.J.1
De Vries, L.S.2
Groendendaal, F.3
-
55
-
-
0029781669
-
Cerebellar hypoplasia in respiratory chain dysfunction
-
Lincke CR, van den Bogert C, Nijtmans LG, Wanders RJA, Tamminga P, Barth PG. Cerebellar hypoplasia in respiratory chain dysfunction. Neuropediatrics 1996;27:216-218.
-
(1996)
Neuropediatrics
, vol.27
, pp. 216-218
-
-
Lincke, C.R.1
Van Den Bogert, C.2
Nijtmans, L.G.3
Wanders, R.J.A.4
Tamminga, P.5
Barth, P.G.6
-
56
-
-
0031035530
-
A case of Menkes syndrome associated with deafness and inferior cerebellum vermian hypoplasia
-
Aynaci FM, Mocan H, Bahadir S, Sari A, Aksoy A. A case of Menkes syndrome associated with deafness and inferior cerebellum vermian hypoplasia. Acta Paediatr 1997;86:121-123.
-
(1997)
Acta Paediatr
, vol.86
, pp. 121-123
-
-
Aynaci, F.M.1
Mocan, H.2
Bahadir, S.3
Sari, A.4
Aksoy, A.5
-
57
-
-
0029027206
-
Localized proton magnetic resonance spectroscopy of cerebral abnormalities in children with carbohydrate-deficient glycoprotein syndrome
-
Holzbach U, Hanefeld F, Helms G, Hänicke W, Frahm J. Localized proton magnetic resonance spectroscopy of cerebral abnormalities in children with carbohydrate-deficient glycoprotein syndrome. Acta Paediatr 1995;84:781-786.
-
(1995)
Acta Paediatr
, vol.84
, pp. 781-786
-
-
Holzbach, U.1
Hanefeld, F.2
Helms, G.3
Hänicke, W.4
Frahm, J.5
-
60
-
-
0023200575
-
Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex
-
Robinson BH, MacMillan H, Petrova-Benedict R. Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex. J Pediatr 1987;11:525-533.
-
(1987)
J Pediatr
, vol.11
, pp. 525-533
-
-
Robinson, B.H.1
MacMillan, H.2
Petrova-Benedict, R.3
-
61
-
-
0028286775
-
Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications
-
Samson JF, Barth PG, de Vries JIP, et al. Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications. Eur J Pediatr 1994;153:510-516.
-
(1994)
Eur J Pediatr
, vol.153
, pp. 510-516
-
-
Samson, J.F.1
Barth, P.G.2
De Vries, J.I.P.3
-
62
-
-
0034056402
-
Fumaric aciduria: Clinical and imaging features
-
Kerrigan JF, Aleck KA, Tarby TJ, Bird CR, Heidenreich RA. Fumaric aciduria: clinical and imaging features. Ann Neurol 2000;47:583-588.
-
(2000)
Ann Neurol
, vol.47
, pp. 583-588
-
-
Kerrigan, J.F.1
Aleck, K.A.2
Tarby, T.J.3
Bird, C.R.4
Heidenreich, R.A.5
-
63
-
-
0029006781
-
Glutaric acidemia type II: Neuroimaging and spectroscopy evidence for developmental encephalomyopathy
-
Shevell MI, Didomenicantonio G, Sylvain M, Arnold DL, O'Gorman AM, Scriver CR. Glutaric acidemia type II: neuroimaging and spectroscopy evidence for developmental encephalomyopathy. Pediatr Neurol 1994;12:350-353.
-
(1994)
Pediatr Neurol
, vol.12
, pp. 350-353
-
-
Shevell, M.I.1
Didomenicantonio, G.2
Sylvain, M.3
Arnold, D.L.4
O'Gorman, A.M.5
Scriver, C.R.6
-
64
-
-
0026635106
-
Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria
-
Chitayat D, Meagher-Villemure K, Mamer OA, et al. Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria. J Pediatr 1992;121:86-89.
-
(1992)
J Pediatr
, vol.121
, pp. 86-89
-
-
Chitayat, D.1
Meagher-Villemure, K.2
Mamer, O.A.3
-
65
-
-
0037244868
-
Congenital erythropoietic porphyria (Günther's disease): Two cases with very early prenatal manifestation and cystic hygroma
-
Pannier E, Viot G, Aubrey MC, et al. Congenital erythropoietic porphyria (Günther's disease): two cases with very early prenatal manifestation and cystic hygroma. Prenat Diagn 2003;23:25-30.
-
(2003)
Prenat Diagn
, vol.23
, pp. 25-30
-
-
Pannier, E.1
Viot, G.2
Aubrey, M.C.3
-
66
-
-
0141954897
-
G protein diseases: Newly recognized causes of metabolic encephalopathy
-
Jaeken JC, Freson K, Goemans NM, et al. G protein diseases: newly recognized causes of metabolic encephalopathy. EPJN 2003;7:211-215.
-
(2003)
EPJN
, vol.7
, pp. 211-215
-
-
Jaeken, J.C.1
Freson, K.2
Goemans, N.M.3
-
67
-
-
0036023290
-
Novel mutation and prenatal sonographic findings of glutaric aciduria (type 1) in two Taiwanese families
-
Lin SK, Hsu SG, Ho ESC, et al. Novel mutation and prenatal sonographic findings of glutaric aciduria (type 1) in two Taiwanese families. Prenat Diagn 2002;22:725-729.
-
(2002)
Prenat Diagn
, vol.22
, pp. 725-729
-
-
Lin, S.K.1
Hsu, S.G.2
Ho, E.S.C.3
-
68
-
-
0035126047
-
Congenital erythropoietic porphyria: Prenatal diagnosis and autopsy findings in two sibling fetuses
-
Daikha-Dahmane F, Dommergues M, Narcy F, et al. Congenital erythropoietic porphyria: prenatal diagnosis and autopsy findings in two sibling fetuses. Pediatr Dev Pathol 2001;4:180-184.
-
(2001)
Pediatr Dev Pathol
, vol.4
, pp. 180-184
-
-
Daikha-Dahmane, F.1
Dommergues, M.2
Narcy, F.3
-
69
-
-
0025193539
-
Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops: Successful response to carnitine therapy
-
Steenhout P, Elmer C, Clercx A, et al. Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops: successful response to carnitine therapy. J Inherit Metab Dis 1990;13:69-75.
-
(1990)
J Inherit Metab Dis
, vol.13
, pp. 69-75
-
-
Steenhout, P.1
Elmer, C.2
Clercx, A.3
-
70
-
-
0036303882
-
Lysosomal disorders
-
Wraith JE. Lysosomal disorders. Semin Neonatol 2002;7:75-83.
-
(2002)
Semin Neonatol
, vol.7
, pp. 75-83
-
-
Wraith, J.E.1
-
71
-
-
0026347437
-
Lysosomal storage diseases presenting as transient or persistent hydrops fetalis
-
Bonduelle M, Lissens W, Goossens A, et al. Lysosomal storage diseases presenting as transient or persistent hydrops fetalis. Genet Couns 1991;2:227-232.
-
(1991)
Genet Couns
, vol.2
, pp. 227-232
-
-
Bonduelle, M.1
Lissens, W.2
Goossens, A.3
-
72
-
-
0033286018
-
Hydrops fetalis: Lysosomal storage disorders in extremis
-
Stone DL, Sidransky E. Hydrops fetalis: lysosomal storage disorders in extremis. Adv Pediatr 1999;46:409-440.
-
(1999)
Adv Pediatr
, vol.46
, pp. 409-440
-
-
Stone, D.L.1
Sidransky, E.2
-
73
-
-
0031783355
-
Recurrent nonimmune hydrops fetalis associated with carbohydrate- deficient glycoprotein syndrome
-
De Koning TJ, Toet M, Dorland L, et al. Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 1998;21:681-682.
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 681-682
-
-
De Koning, T.J.1
Toet, M.2
Dorland, L.3
-
74
-
-
0033543480
-
Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis
-
Cox PM, Brueton LA, Murphy KW, et al. Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis. Am J Med Genet 1999;86:187-193.
-
(1999)
Am J Med Genet
, vol.86
, pp. 187-193
-
-
Cox, P.M.1
Brueton, L.A.2
Murphy, K.W.3
-
75
-
-
17344381512
-
Fetal demise with Smit-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol deltha-7-reductase activity in chorionic villi
-
Linck LM, Hayflick SJ, Lin DS, et al. Fetal demise with Smit-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol deltha-7-reductase activity in chorionic villi. Prenat Diagn 2000;20:238-240.
-
(2000)
Prenat Diagn
, vol.20
, pp. 238-240
-
-
Linck, L.M.1
Hayflick, S.J.2
Lin, D.S.3
-
76
-
-
0033033338
-
Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops
-
Maymon R, Ogle RF, Chitty LS. Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops. Prenat Diagn 1999;19:105-107.
-
(1999)
Prenat Diagn
, vol.19
, pp. 105-107
-
-
Maymon, R.1
Ogle, R.F.2
Chitty, L.S.3
-
78
-
-
0036182169
-
Genetic and metabolic causes of stillbirth
-
Wapner RJ, Lewis D. Genetic and metabolic causes of stillbirth. Semin Perinatol 2002;26:70-74.
-
(2002)
Semin Perinatol
, vol.26
, pp. 70-74
-
-
Wapner, R.J.1
Lewis, D.2
-
79
-
-
0000921948
-
Lethal carnitine palmitoyltransferase (CPT) II deficiency in newborn: A molecular-genetic study
-
Taroni F, Gellera C, Cavadini P, et al. Lethal carnitine palmitoyltransferase (CPT) II deficiency in newborn: a molecular-genetic study. Am J Hum Genet 1994;55:A245.
-
(1994)
Am J Hum Genet
, vol.55
-
-
Taroni, F.1
Gellera, C.2
Cavadini, P.3
-
80
-
-
0026085434
-
Recurrent acute fatty liver pregnancy associated with a fatty-acid oxidation defect in the offspring
-
Schoeman MN, Batey RG, Wilcken B. Recurrent acute fatty liver pregnancy associated with a fatty-acid oxidation defect in the offspring. Gastroenterology 1991;100:544-548.
-
(1991)
Gastroenterology
, vol.100
, pp. 544-548
-
-
Schoeman, M.N.1
Batey, R.G.2
Wilcken, B.3
-
81
-
-
0027409820
-
Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme a dehydrogenase deficiency
-
Wilcken B, Leung K-C, Hammond J, Kamath R, Leonard JV. Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency. Lancet 1993;341:407-408.
-
(1993)
Lancet
, vol.341
, pp. 407-408
-
-
Wilcken, B.1
Leung, K.-C.2
Hammond, J.3
Kamath, R.4
Leonard, J.V.5
-
82
-
-
0029811021
-
Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: Molecular characterization of a novel maternal mutant allele
-
Isaacs JD, Sims HF, Powell CK, et al. Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele. Pediatr Res 1996;40:393-398.
-
(1996)
Pediatr Res
, vol.40
, pp. 393-398
-
-
Isaacs, J.D.1
Sims, H.F.2
Powell, C.K.3
-
83
-
-
0031981027
-
Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency
-
Tiny T, Ekholm E, Pihko H. Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Am J Obstet Gynecol 1998;178:603-608.
-
(1998)
Am J Obstet Gynecol
, vol.178
, pp. 603-608
-
-
Tiny, T.1
Ekholm, E.2
Pihko, H.3
-
84
-
-
0032898281
-
Inherited long-chain 3-hydroxyacyl-coA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications
-
Strauss AW, Bennet MJ, Rinaldo P, et al. Inherited long-chain 3-hydroxyacyl-coA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. Semin Perinatol 1999;23:100-112.
-
(1999)
Semin Perinatol
, vol.23
, pp. 100-112
-
-
Strauss, A.W.1
Bennet, M.J.2
Rinaldo, P.3
-
85
-
-
0033519714
-
A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women
-
Ibdah JA, Bennett MJ, Rinaldo P, et al. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med 1999;340:1723-1731.
-
(1999)
N Engl J Med
, vol.340
, pp. 1723-1731
-
-
Ibdah, J.A.1
Bennett, M.J.2
Rinaldo, P.3
-
86
-
-
0033982975
-
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy
-
Innes AM, Sergeant LE, Balachandra K, et al. Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy. Pediatr Res 2000;47:43-45.
-
(2000)
Pediatr Res
, vol.47
, pp. 43-45
-
-
Innes, A.M.1
Sergeant, L.E.2
Balachandra, K.3
-
87
-
-
0034515318
-
Trifunctional protein deficiency: Three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation
-
Chakrapani A, Olpin S, Cleary M, Walter JH, Wriath JE, Besley GTN. Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation. J Inherit Metab Dis 2000;23:826-834.
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 826-834
-
-
Chakrapani, A.1
Olpin, S.2
Cleary, M.3
Walter, J.H.4
Wriath, J.E.5
Besley, G.T.N.6
-
88
-
-
0033916399
-
Heterozygosity for the common LCHAD mutation (1528G > C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low
-
den Boer MEJ, Ijlst L, Wijburg FA, et al. Heterozygosity for the common LCHAD mutation (1528G > C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low. Pediatr Res 2000;48:151-154.
-
(2000)
Pediatr Res
, vol.48
, pp. 151-154
-
-
Den Boer, M.E.J.1
Ijlst, L.2
Wijburg, F.A.3
-
89
-
-
0033982824
-
Metabolic disease in the fetus predisposes to maternal hepatic complications of pregnancy
-
Tein I. Metabolic disease in the fetus predisposes to maternal hepatic complications of pregnancy. Pediatr Res 2000;47:6-8.
-
(2000)
Pediatr Res
, vol.47
, pp. 6-8
-
-
Tein, I.1
-
90
-
-
0033941464
-
The HELLP syndrome associated with fetal medium chain acyl-CoA dehydrogenase deficiency
-
Nelson J, Lewis B, Walters B. The HELLP syndrome associated with fetal medium chain acyl-CoA dehydrogenase deficiency. J Inherit Metab 2000;23:518-519.
-
(2000)
J Inherit Metab
, vol.23
, pp. 518-519
-
-
Nelson, J.1
Lewis, B.2
Walters, B.3
-
91
-
-
0036581549
-
Evidence for fatty acid oxidation in human placenta, and the relationship of fatty acid oxidation enzyme activities with gestational age
-
Rakheja D, Bennett MJ, Foster BM, Domiati-Saad R, Rogers BB. Evidence for fatty acid oxidation in human placenta, and the relationship of fatty acid oxidation enzyme activities with gestational age. Placenta 2002;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
-
92
-
-
0029835610
-
Common missense G1528C in long-chain 3-hydroxyacyl-coA dehydrogenase deficiency
-
Ijlst L, Ruiter JPN, Hoovers JMN, Jakobs ME, Wanders RJA. Common missense G1528C in long-chain 3-hydroxyacyl-coA dehydrogenase deficiency. J Clin Invest 1996;98:1028-1033.
-
(1996)
J Clin Invest
, vol.98
, pp. 1028-1033
-
-
Ijlst, L.1
Ruiter, J.P.N.2
Hoovers, J.M.N.3
Jakobs, M.E.4
Wanders, R.J.A.5
-
94
-
-
0034023381
-
Hyperhomocysteinemia and other thrombotic risk factors in women with placental vasculopathy
-
van der Molen EF, Verbruggen B, Novakova I, Eskes TKAB, Monnens LAH, Blom HJ. Hyperhomocysteinemia and other thrombotic risk factors in women with placental vasculopathy. Br J Obstet Gynaecol 2000;107:785-791.
-
(2000)
Br J Obstet Gynaecol
, vol.107
, pp. 785-791
-
-
Van Der Molen, E.F.1
Verbruggen, B.2
Novakova, I.3
Eskes, T.K.A.B.4
Monnens, L.A.H.5
Blom, H.J.6
-
95
-
-
0027169373
-
Diagnosis and management of fetal death. ACOG Technical Bulletin Number 176, January 1993
-
Diagnosis and management of fetal death. ACOG Technical Bulletin Number 176, January 1993. Int J Gynaecol Obstet 1993;42:291-299.
-
(1993)
Int J Gynaecol Obstet
, vol.42
, pp. 291-299
-
-
-
96
-
-
37449033033
-
Early pregnancy loss
-
September
-
Early pregnancy loss. ACOG Technical Bulletin. Number 212, September 1995.
-
(1995)
ACOG Technical Bulletin
, vol.212
-
-
-
98
-
-
0030690585
-
Hyperhomocysteinaemia and protein S deficiency in complicated pregnancies
-
De Vries JIP, Dekker GA, Huijgens PC, Jakobs C, Blomberg BME, van Geijn HP. Hyperhomocysteinaemia and protein S deficiency in complicated pregnancies. Br J Obstet Gynaecol 1997;104:1428-1454.
-
(1997)
Br J Obstet Gynaecol
, vol.104
, pp. 1428-1454
-
-
De Vries, J.I.P.1
Dekker, G.A.2
Huijgens, P.C.3
Jakobs, C.4
Blomberg, B.M.E.5
Van Geijn, H.P.6
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