546 related articles for article (PubMed ID: 18428423)
1. 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]
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. 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]
4. 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]
5. [Galactosemia].
Ohtake A; Amemiya S
Nihon Rinsho; 2006 Sep; Suppl 3():215-9. PubMed ID: 17022534
[No Abstract] [Full Text] [Related]
6. 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]
7. Two familial cases of high blood galactose of unknown aetiology.
Brunetti-Pierri N; Opekun AR; Craigen WJ
J Inherit Metab Dis; 2006 Dec; 29(6):762. PubMed ID: 16988899
[TBL] [Abstract][Full Text] [Related]
8. Galactose and cataract.
Stambolian D
Surv Ophthalmol; 1988; 32(5):333-49. PubMed ID: 3043741
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Issues on universal screening for galactosemia.
Padilla CD; Lam ST
Ann Acad Med Singap; 2008 Dec; 37(12 Suppl):39-3. PubMed ID: 19904445
[TBL] [Abstract][Full Text] [Related]
11. GALT Deficiency Galactosemia.
Anderson S
MCN Am J Matern Child Nurs; 2018; 43(1):44-51. PubMed ID: 29215423
[TBL] [Abstract][Full Text] [Related]
12. On the screening for inborn errors of galactose metabolism.
Vaca G; Sànchez-Corona J; Olivares N; Medina C; Ibarra B; Cantú JM
Ann Genet; 1983; 26(3):191-2. PubMed ID: 6606384
[TBL] [Abstract][Full Text] [Related]
13. Perinatal galactose metabolism.
Kliegman RM; Sparks JW
J Pediatr; 1985 Dec; 107(6):831-41. PubMed ID: 3906069
[TBL] [Abstract][Full Text] [Related]
14. [Galactose-1-phosphate uridyltransferase deficiency].
Okano Y; Isshiki G
Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):15-21. PubMed ID: 9589977
[No Abstract] [Full Text] [Related]
15. Structure and function of enzymes of the Leloir pathway for galactose metabolism.
Holden HM; Rayment I; Thoden JB
J Biol Chem; 2003 Nov; 278(45):43885-8. PubMed ID: 12923184
[No Abstract] [Full Text] [Related]
16. 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]
17. Intracellular galactose-1-phosphate accumulation leads to environmental stress response in yeast model.
Slepak T; Tang M; Addo F; Lai K
Mol Genet Metab; 2005 Nov; 86(3):360-71. PubMed ID: 16169270
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [Identification of inborn errors of galactose metabolism in patients with cataracts].
Vaca-Pacheco G; Medina C; García-Cruz D; Sánchez-Corona J; Chávez-Anaya E; Jaimes C; Hernández-Córdova A
Arch Invest Med (Mex); 1990; 21(2):127-32. PubMed ID: 2103700
[TBL] [Abstract][Full Text] [Related]
20. Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies.
Li Y; Ptolemy AS; Harmonay L; Kellogg M; Berry GT
Mol Genet Metab; 2011 Jan; 102(1):33-40. PubMed ID: 20863731
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]