140 related articles for article (PubMed ID: 29303783)
1. Identification of five mutations in a patient with galactose metabolic disorders.
Schulpis KH; Thodi G; Iakovou K; Dotsikas Y; Molou E; Loukas YL
J Pediatr Endocrinol Metab; 2018 Jan; 31(2):221-222. PubMed ID: 29303783
[No Abstract] [Full Text] [Related]
2. Rare cases of galactose metabolic disorders: identification of more than two mutations per patient.
Schulpis KH; Thodi G; Chatzidaki M; Iakovou K; Molou E; Dotsikas Y; Loukas YL
J Pediatr Endocrinol Metab; 2017 Oct; 30(10):1119-1120. PubMed ID: 28902631
[No Abstract] [Full Text] [Related]
3. Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.
Maceratesi P; Daude N; Dallapiccola B; Novelli G; Allen R; Okano Y; Reichardt J
Mol Genet Metab; 1998 Jan; 63(1):26-30. PubMed ID: 9538513
[TBL] [Abstract][Full Text] [Related]
4. Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases.
Schulpis KH; Thodi G; Iakovou K; Chatzidaki M; Dotsikas Y; Molou E; Triantafylli O; Loukas YL
J Pediatr Endocrinol Metab; 2017 Jul; 30(7):775-779. PubMed ID: 28672748
[TBL] [Abstract][Full Text] [Related]
5. Molecular basis of disorders of human galactose metabolism: past, present, and future.
Novelli G; Reichardt JK
Mol Genet Metab; 2000; 71(1-2):62-5. PubMed ID: 11001796
[TBL] [Abstract][Full Text] [Related]
6. Hereditary galactosemia.
Demirbas D; Coelho AI; Rubio-Gozalbo ME; Berry GT
Metabolism; 2018 Jun; 83():188-196. PubMed ID: 29409891
[TBL] [Abstract][Full Text] [Related]
7. Diagnosis of inherited disorders of galactose metabolism.
Cuthbert C; Klapper H; Elsas L
Curr Protoc Hum Genet; 2008 Jan; Chapter 17():Unit 17.5. PubMed ID: 18428423
[TBL] [Abstract][Full Text] [Related]
8. The molecular basis of galactosemia - Past, present and future.
Timson DJ
Gene; 2016 Sep; 589(2):133-41. PubMed ID: 26143117
[TBL] [Abstract][Full Text] [Related]
9. [Galactosemia].
Ohtake A; Amemiya S
Nihon Rinsho; 2006 Sep; Suppl 3():215-9. PubMed ID: 17022534
[No Abstract] [Full Text] [Related]
10. Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia.
Timson DJ; Lindert S
Gene; 2013 Sep; 526(2):318-24. PubMed ID: 23732289
[TBL] [Abstract][Full Text] [Related]
11. The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients.
Park HD; Park KU; Kim JQ; Shin CH; Yang SW; Lee DH; Song YH; Song J
Genet Med; 2005; 7(9):646-9. PubMed ID: 16301867
[TBL] [Abstract][Full Text] [Related]
12. [Galactosemia].
Owada M
Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):647-51. PubMed ID: 3270877
[No Abstract] [Full Text] [Related]
13. Expansion of the clinical phenotype of GALE deficiency.
Markovitz R; Owen N; Satter LF; Kirk S; Mahoney DH; Bertuch AA; Scaglia F
Am J Med Genet A; 2021 Oct; 185(10):3118-3121. PubMed ID: 34159722
[TBL] [Abstract][Full Text] [Related]
14. The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry.
Petry KG; Reichardt JK
Trends Genet; 1998 Mar; 14(3):98-102. PubMed ID: 9540406
[TBL] [Abstract][Full Text] [Related]
15. Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.
Kumar SU; Sankar S; Kumar DT; Younes S; Younes N; Siva R; Doss CGP; Zayed H
Cell Biochem Biophys; 2021 Jun; 79(2):201-219. PubMed ID: 33555556
[TBL] [Abstract][Full Text] [Related]
16. Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells.
Bang YL; Nguyen TT; Trinh TT; Kim YJ; Song J; Song YH
FEBS J; 2009 Apr; 276(7):1952-61. PubMed ID: 19250319
[TBL] [Abstract][Full Text] [Related]
17. A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia.
Henderson JM; Huguenin SM; Cowan TM; Fridovich-Keil JL
Clin Genet; 2001 Nov; 60(5):350-5. PubMed ID: 11903335
[TBL] [Abstract][Full Text] [Related]
18. A first case report of UDP-galactose-4'-epimerase deficiency in China: genotype and phenotype.
Tong F; Yang R; Hong F; Qian G; Jiang P; Gao R
J Pediatr Endocrinol Metab; 2016 Mar; 29(3):379-83. PubMed ID: 26565537
[TBL] [Abstract][Full Text] [Related]
19. Galactose toxicity in animals.
Lai K; Elsas LJ; Wierenga KJ
IUBMB Life; 2009 Nov; 61(11):1063-74. PubMed ID: 19859980
[TBL] [Abstract][Full Text] [Related]
20. Drosophila melanogaster Models of Galactosemia.
Daenzer JM; Fridovich-Keil JL
Curr Top Dev Biol; 2017; 121():377-395. PubMed ID: 28057307
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
