59 related articles for article (PubMed ID: 28871650)
1. Classical galactosaemia in Chinese: A case report and review of disease incidence.
Cheung KL; Tang N; Hsiao KJ; Law LK; Wong W; Ng PC; Pang CP; Applegarth DA; Fok TF; Hjelm NM
J Paediatr Child Health; 1999 Aug; 35(4):399-400. PubMed ID: 28871650
[TBL] [Abstract][Full Text] [Related]
2. Classical galactosaemia in Chinese: A case report and review of disease incidence.
Cheung KL; Tang NL; Hsiao KJ; Law LK; Wong W; Ng PC; Pang CP; Applegarth DA; Fok TF; Hjelm NM
J Paediatr Child Health; 1999 Aug; 35(4):399-400. PubMed ID: 10457302
[TBL] [Abstract][Full Text] [Related]
3. Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population.
Lukac-Bajalo J; Marc J; Mlinar B; Karas N; Krzisnik C; Battelino T
Clin Chem Lab Med; 2002 Nov; 40(11):1109-13. PubMed ID: 12521227
[TBL] [Abstract][Full Text] [Related]
4. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
Tyfield L; Reichardt J; Fridovich-Keil J; Croke DT; Elsas LJ; Strobl W; Kozak L; Coskun T; Novelli G; Okano Y; Zekanowski C; Shin Y; Boleda MD
Hum Mutat; 1999; 13(6):417-30. PubMed ID: 10408771
[TBL] [Abstract][Full Text] [Related]
5. Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.
Berry GT; Singh RH; Mazur AT; Guerrero N; Kennedy MJ; Chen J; Reynolds R; Palmieri MJ; Klein PD; Segal S; Elsas LJ
Pediatr Res; 2000 Sep; 48(3):323-8. PubMed ID: 10960497
[TBL] [Abstract][Full Text] [Related]
6. No association of endometriosis with galactose-1-phosphate uridyl transferase mutations in a Chinese population.
He C; Song Y; He X; Zhang W; Liao L
Environ Mol Mutagen; 2006 May; 47(4):307-9. PubMed ID: 16416427
[TBL] [Abstract][Full Text] [Related]
7. Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.
Murphy M; McHugh B; Tighe O; Mayne P; O'Neill C; Naughten E; Croke DT
Eur J Hum Genet; 1999 Jul; 7(5):549-54. PubMed ID: 10439960
[TBL] [Abstract][Full Text] [Related]
8. The N314D polymorphism of galactose-1-phosphate uridyl transferase does not modify the risk of ovarian cancer.
Fung WL; Risch H; McLaughlin J; Rosen B; Cole D; Vesprini D; Narod SA
Cancer Epidemiol Biomarkers Prev; 2003 Jul; 12(7):678-80. PubMed ID: 12869412
[TBL] [Abstract][Full Text] [Related]
9. Galactosemia: when is it a newborn screening emergency?
Berry GT
Mol Genet Metab; 2012 May; 106(1):7-11. PubMed ID: 22483615
[TBL] [Abstract][Full Text] [Related]
10. Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations.
Schmidt D; Shin YS; Auw-Haedrich C; Tacke U
Acta Ophthalmol; 2011 Aug; 89(5):489-94. PubMed ID: 20222886
[TBL] [Abstract][Full Text] [Related]
11. Molecular analysis in newborns from Texas affected with galactosemia.
Yang YP; Corley N; Garcia-Heras J
Hum Mutat; 2002 Jan; 19(1):82-3. PubMed ID: 11754113
[TBL] [Abstract][Full Text] [Related]
12. Identification of galactose-1-phosphate uridyl transferase gene common mutations in dried blood spots.
Sartippour MR; Doroudian R; Frampton G; Lorey F; Helmer G; Ho T; Bhandal A
Clin Chim Acta; 2014 Sep; 436():298-302. PubMed ID: 24973740
[TBL] [Abstract][Full Text] [Related]
13. Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.
Singh R; Thapa BR; Kaur G; Prasad R
Clin Chim Acta; 2012 Dec; 414():191-6. PubMed ID: 23022339
[TBL] [Abstract][Full Text] [Related]
14. Detection of common mutations in the GALT gene through ARMS.
Mahmood U; Imran M; Naik SI; Cheema HA; Saeed A; Arshad M; Mahmood S
Gene; 2012 Nov; 509(2):291-4. PubMed ID: 22963887
[TBL] [Abstract][Full Text] [Related]
15. Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.
Viggiano E; Marabotti A; Burlina AP; Cazzorla C; D'Apice MR; Giordano L; Fasan I; Novelli G; Facchiano A; Burlina AB
Gene; 2015 Apr; 559(2):112-8. PubMed ID: 25592817
[TBL] [Abstract][Full Text] [Related]
16. The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients.
Mirzajani F; Mirfakhraie R; Nabati F; Tabatabaei NN; Talachian E; Houshmand M
Clin Biochem; 2006 Jul; 39(7):697-9. PubMed ID: 16765930
[TBL] [Abstract][Full Text] [Related]
17. Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.
Schadewaldt P; Kamalanathan L; Hammen HW; Kotzka J; Wendel U
Arch Physiol Biochem; 2014 Dec; 120(5):228-39. PubMed ID: 25268296
[TBL] [Abstract][Full Text] [Related]
18. Determinants of basal follicle-stimulating hormone levels in premenopausal women.
Cramer DW; Barbieri RL; Xu H; Reichardt JK
J Clin Endocrinol Metab; 1994 Oct; 79(4):1105-9. PubMed ID: 7962282
[TBL] [Abstract][Full Text] [Related]
19. Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts.
Lai K; Langley SD; Dembure PP; Hjelm LN; Elsas LJ
Hum Mutat; 1998; 11(1):28-38. PubMed ID: 9450900
[TBL] [Abstract][Full Text] [Related]
20. Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate.
Cohen AS; Baurek M; Lund AM; Dunø M; Hougaard DM
Int J Neonatal Screen; 2019 Jun; 5(2):19. PubMed ID: 33072978
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
