151 related articles for article (PubMed ID: 21059483)
1. The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population.
Goldstein N; Cohen Y; Pode-Shakked B; Sigalov E; Vilensky B; Peleg L; Anikster Y
Mol Genet Metab; 2011 Feb; 102(2):157-60. PubMed ID: 21059483
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online.
Seyrantepe V; Ozguc M; Coskun T; Ozalp I; Reichardt JK
Hum Mutat; 1999; 13(4):339. PubMed ID: 10220154
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. The molecular biology of galactosemia.
Elsas LJ; Lai K
Genet Med; 1998; 1(1):40-8. PubMed ID: 11261429
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Prevention of a molecular misdiagnosis in galactosemia.
Barbouth D; Slepak T; Klapper H; Lai K; Elsas LJ
Genet Med; 2006 Mar; 8(3):178-82. PubMed ID: 16540753
[TBL] [Abstract][Full Text] [Related]
8. Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).
Kozák L; Francová H; Fajkusová L; Pijácková A; Macku J; Stastná S; Peskovová K; Martincová O; Krijt J; Bzdúch V
Hum Mutat; 2000 Feb; 15(2):206. PubMed ID: 10649501
[TBL] [Abstract][Full Text] [Related]
9. Identification of novel mutations in classical galactosemia.
Bosch AM; Ijlst L; Oostheim W; Mulders J; Bakker HD; Wijburg FA; Wanders RJ; Waterham HR
Hum Mutat; 2005 May; 25(5):502. PubMed ID: 15841485
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia.
Schuster V; Podskarbi T; Ottensmeier H; Haubner M; Shin YS
J Mol Med (Berl); 1998 Sep; 76(10):715-9. PubMed ID: 9766850
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene.
Coffee B; Hjelm LN; DeLorenzo A; Courtney EM; Yu C; Muralidharan K
Genet Med; 2006 Oct; 8(10):635-40. PubMed ID: 17079880
[TBL] [Abstract][Full Text] [Related]
14. Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure.
Grama A; Blaga L; Nicolescu A; Deleanu C; Militaru M; Căinap SS; Pop I; Tita G; Sîrbe C; Fufezan O; Vințan MA; Vulturar R; Pop TL
Medicina (Kaunas); 2019 Apr; 55(4):. PubMed ID: 30987402
[TBL] [Abstract][Full Text] [Related]
15. A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family.
De Lucca M; Barba C; Casique L
Clin Chim Acta; 2017 Jul; 470():20-23. PubMed ID: 28450132
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.
Liu Y; Sidhu A; Bean LH; Conway RL; Fridovich-Keil JL
Clin Chim Acta; 2015 Jun; 446():171-4. PubMed ID: 25920691
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency].
Bosch AM; Waterham HR; Bakker HD
Ned Tijdschr Geneeskd; 2004 Jan; 148(2):80-1. PubMed ID: 14753129
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]