-
1
-
-
0013930049
-
A simple spot screening test for galactosemia
-
Beutler E, Baluda MC (1966) A simple spot screening test for galactosemia. J Lab Clin Med 68:137–141
-
(1966)
J Lab Clin Med
, vol.68
, pp. 137-141
-
-
Beutler, E.1
Baluda, M.C.2
-
2
-
-
76749160257
-
Galactosemia, a single gene disorder with epigenetic consequences
-
Coman DJ, Murray DW, Byrne JC, Rudd PM, Bagaglia PM, Doran PD, Treacy EP (2010) Galactosemia, a single gene disorder with epigenetic consequences. Pediatr Res 67:286–292
-
(2010)
Pediatr Res
, vol.67
, pp. 286-292
-
-
Coman, D.J.1
Murray, D.W.2
Byrne, J.C.3
Rudd, P.M.4
Bagaglia, P.M.5
Doran, P.D.6
Treacy, E.P.7
-
3
-
-
77954381946
-
Duarte galactosemia: How sweet is it?
-
Fernhoff PM (2010) Duarte galactosemia: how sweet is it? Clin Chem 56:1045–1046
-
(2010)
Clin Chem
, vol.56
, pp. 1045-1046
-
-
Fernhoff, P.M.1
-
4
-
-
55949133415
-
Duarte (DG) galactosemia: A pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening
-
Ficicioglu C, Thomas N, Yager C, Gallagher PR, Hussa C, Mattie A, Day-Salvatore DL, Forbes BJ (2008) Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening. Mol Genet Metab 95:206–212
-
(2008)
Mol Genet Metab
, vol.95
, pp. 206-212
-
-
Ficicioglu, C.1
Thomas, N.2
Yager, C.3
Gallagher, P.R.4
Hussa, C.5
Mattie, A.6
Day-Salvatore, D.L.7
Forbes, B.J.8
-
5
-
-
77954359778
-
Monitoring of biochemical status in children with Duarte galactosemia: Utility of galactose, galactitol, galactonate, and galactose 1-phosphate
-
Ficicioglu C, Hussa C, Gallagher PR, Thomas N, Yager C (2010) Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate. Clin Chem 56:1177–1182
-
(2010)
Clin Chem
, vol.56
, pp. 1177-1182
-
-
Ficicioglu, C.1
Hussa, C.2
Gallagher, P.R.3
Thomas, N.4
Yager, C.5
-
6
-
-
77649212031
-
Newborn screening for galactosemia: A review of 5 years of data and audit of a revised reporting approach
-
Freer DE, Ficicioglu C, Finegold D (2010) Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach. Clin Chem 56:437–444
-
(2010)
Clin Chem
, vol.56
, pp. 437-444
-
-
Freer, D.E.1
Ficicioglu, C.2
Finegold, D.3
-
7
-
-
0029112151
-
Partial deficiency of galactose-1-phosphate uridyltransferase
-
Gitzelmann R, Bosshard NU (1995) Partial deficiency of galactose-1-phosphate uridyltransferase. Eur J Pediatr 154:S40–S44
-
(1995)
Eur J Pediatr
, vol.154
, pp. S40-S44
-
-
Gitzelmann, R.1
Bosshard, N.U.2
-
9
-
-
75449123150
-
A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants
-
Guthrie R, Susi A (1963) A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32:338–343
-
(1963)
Pediatrics
, vol.32
, pp. 338-343
-
-
Guthrie, R.1
Susi, A.2
-
10
-
-
37049233979
-
Congenital galactosemia, a single enzymatic block in galactose metabolism
-
Isselbacher KJ, Andersson EP, Kurahashi K, Kalckar HM (1956) Congenital galactosemia, a single enzymatic block in galactose metabolism. Science 123:635–636
-
(1956)
Science
, vol.123
, pp. 635-636
-
-
Isselbacher, K.J.1
Andersson, E.P.2
Kurahashi, K.3
Kalckar, H.M.4
-
11
-
-
33845905752
-
Development of a new diagnostic method for galactosemia by high-performance anion-exchange chromatography with pulsed amperometric detection
-
Jeong JS, Yoon HR, Hong SP (2007) Development of a new diagnostic method for galactosemia by high-performance anion-exchange chromatography with pulsed amperometric detection. J Chromatogr A 1140:157–162
-
(2007)
J Chromatogr A
, vol.1140
, pp. 157-162
-
-
Jeong, J.S.1
Yoon, H.R.2
Hong, S.P.3
-
12
-
-
73849129113
-
Long-term speech and language developmental issues among children with Duarte galactosemia
-
Powell KK, Van Naarden BK, Singh RH, Shapira SK, Olney RS, Yeargin-Allsopp M (2009) Long-term speech and language developmental issues among children with Duarte galactosemia. Genet Med 11:874–879
-
(2009)
Genet Med
, vol.11
, pp. 874-879
-
-
Powell, K.K.1
van Naarden, B.K.2
Singh, R.H.3
Shapira, S.K.4
Olney, R.S.5
Yeargin-Allsopp, M.6
-
13
-
-
0025648036
-
Long-term prognosis in galactosaemia: Results of a survey of 350 cases
-
Waggoner DD, Buist NR, Donnell GN (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis 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
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