185 related articles for article (PubMed ID: 30994193)
1. Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.
Papachristoforou R; Petrou PP; Sawyer H; Williams M; Drousiotou A
Ann Hum Genet; 2019 Sep; 83(5):291-298. PubMed ID: 30994193
[TBL] [Abstract][Full Text] [Related]
2. Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population.
Singh R; Thapa BR; Kaur G; Prasad R
Biochem Genet; 2012 Dec; 50(11-12):871-80. PubMed ID: 22798028
[TBL] [Abstract][Full Text] [Related]
3. Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.
Podskarbi T; Kohlmetz T; Gathof BS; Kleinlein B; Bieger WP; Gresser U; Shin YS
J Inherit Metab Dis; 1996; 19(5):638-44. PubMed ID: 8892021
[TBL] [Abstract][Full Text] [Related]
4. Association of presenile cataract with galactose-1-phosphate uridyl transferase gene mutations.
Nema N; Kumar R; Verma A; Verma S; Chaturvedi K
Natl Med J India; 2017; 30(2):73-75. PubMed ID: 28816213
[TBL] [Abstract][Full Text] [Related]
5. Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.
Özgül RK; Güzel-Ozantürk A; Dündar H; Yücel-Yılmaz D; Coşkun T; Sivri S; Aydoǧdu S; Tokatlı A; Dursun A
J Hum Genet; 2013 Oct; 58(10):675-8. PubMed ID: 23924834
[TBL] [Abstract][Full Text] [Related]
6. Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.
Choi R; Jo KI; Ko DH; Lee DH; Song J; Jin DK; Ki CS; Lee SY; Kim JW; Lee YW; Park HD
BMC Med Genet; 2014 Aug; 15():94. PubMed ID: 25124065
[TBL] [Abstract][Full Text] [Related]
7. The molecular basis of transferase galactosaemia in South African negroids.
Manga N; Jenkins T; Jackson H; Whittaker DA; Lane AB
J Inherit Metab Dis; 1999 Feb; 22(1):37-42. PubMed ID: 10070616
[TBL] [Abstract][Full Text] [Related]
8. Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus.
Benson PF; Brandt NJ; Christensen E; Fensom AH
Clin Genet; 1979 Nov; 16(5):311-6. PubMed ID: 519903
[TBL] [Abstract][Full Text] [Related]
9. Mutational spectrum of classical galactosaemia in Spain and Portugal.
Gort L; Boleda MD; Tyfield L; Vilarinho L; Rivera I; Cardoso ML; Santos-Leite M; Girós M; Briones P
J Inherit Metab Dis; 2006 Dec; 29(6):739-42. PubMed ID: 17041746
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.
Velázquez-Aragón J; Alcántara-Ortigoza MA; Vela-Amieva M; Monroy S; Martínez-Cruz V; Todd-Quiñones C; González-del Angel A
J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S333-7. PubMed ID: 18956253
[TBL] [Abstract][Full Text] [Related]
12. Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.
Hirokawa H; Okano Y; Asada M; Fujimoto A; Suyama I; Isshiki G
Eur J Hum Genet; 1999; 7(7):757-64. PubMed ID: 10573007
[TBL] [Abstract][Full Text] [Related]
13. On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
Lin HC; Kirby LT; Ng WG; Reichardt JK
Hum Genet; 1994 Feb; 93(2):167-9. PubMed ID: 8112740
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.
Schulpis KH; Thodi G; Iakovou K; Chatzidaki M; Dotsikas Y; Molou E; Triantafylli O; Loukas YL
Scand J Clin Lab Invest; 2017 Oct; 77(6):423-427. PubMed ID: 28644047
[TBL] [Abstract][Full Text] [Related]
16. The molecular biology of galactosemia.
Elsas LJ; Lai K
Genet Med; 1998; 1(1):40-8. PubMed ID: 11261429
[TBL] [Abstract][Full Text] [Related]
17. Molecular characterization of galactosemia (type 1) mutations in Japanese.
Ashino J; Okano Y; Suyama I; Yamazaki T; Yoshino M; Furuyama J; Lin HC; Reichardt JK; Isshiki G
Hum Mutat; 1995; 6(1):36-43. PubMed ID: 7550229
[TBL] [Abstract][Full Text] [Related]
18. Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.
Calderon FR; Nelson L; Dobrowolski P; Sinitsyna I; Phansalkar A; Longo N; Pasquali M; Mao R
J Inherit Metab Dis; 2007 Oct; 30(5):818. PubMed ID: 17876724
[TBL] [Abstract][Full Text] [Related]
19. The genetic basis of classical galactosaemia in Polish patients.
Jezela-Stanek A; Bauer A; Wertheim-Tysarowska K; Bal J; Rygiel AM; Sykut-Cegielska J
Orphanet J Rare Dis; 2021 May; 16(1):239. PubMed ID: 34030713
[TBL] [Abstract][Full Text] [Related]
20. Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience.
Zekanowski C; Nowacka M; Radomyska B; Cabalska B
J Med Screen; 2001; 8(3):132-6. PubMed ID: 11678552
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]