289 related articles for article (PubMed ID: 16858969)
1. Galactosemia in Thai patient at Phramongkutklao Hospital: a case report.
Boonyawat B; Kamolsilp M; Phavichitr N
J Med Assoc Thai; 2005 Nov; 88 Suppl 3():S275-80. PubMed ID: 16858969
[TBL] [Abstract][Full Text] [Related]
2. Homocystinuria in Thai patient--Phramongkutklao Hospital experience.
Panthawasit J; Boonyawat B; Boonyavarakul A; Kamolsilp M; Suthijamroon A
J Med Assoc Thai; 2005 Nov; 88 Suppl 3():S257-62. PubMed ID: 16858966
[TBL] [Abstract][Full Text] [Related]
3. Problems in the diagnosis of transferase and galactokinase deficient galactosemia.
Pesce MA; Bodourian SH
Ann Clin Lab Sci; 1980; 10(1):26-32. PubMed ID: 7362195
[TBL] [Abstract][Full Text] [Related]
4. Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: determination by gas chromatography/mass spectrometry.
Ning C; Segal S
Metabolism; 2000 Nov; 49(11):1460-6. PubMed ID: 11092512
[TBL] [Abstract][Full Text] [Related]
5. Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.
Feillet F; Merten M; Battaglia-Hsu SF; Rabier D; Kobayashi K; Straczek J; Brivet M; Favre E; Guéant JL
J Hepatol; 2008 Mar; 48(3):517-22. PubMed ID: 18207281
[TBL] [Abstract][Full Text] [Related]
6. Screening for galactosemia: Philippines experience. Newborn Screening Study Group.
Lee JY; Padilla CD; Chua EL
Southeast Asian J Trop Med Public Health; 1999; 30 Suppl 2():66-8. PubMed ID: 11405207
[TBL] [Abstract][Full Text] [Related]
7. [Hypotonia and lethargy: initial manifestations of a new case of galactosemia].
Vázquez-López ME; Martínez-Regueira S; Somoza-Rubio C; González-Gómez FJ; López-Conde MI; Morales-Redondo R
Rev Neurol; 2004 Aug 1-15; 39(3):240-2. PubMed ID: 15284965
[TBL] [Abstract][Full Text] [Related]
8. Generalized epimerase deficiency galactosemia.
Sarkar M; Bose SS; Mondal G; Chatterjee S
Indian J Pediatr; 2010 Aug; 77(8):909-10. PubMed ID: 20725869
[TBL] [Abstract][Full Text] [Related]
9. Galactitol and galactonate in red blood cells of galactosemic patients.
Yager CT; Chen J; Reynolds R; Segal S
Mol Genet Metab; 2003 Nov; 80(3):283-9. PubMed ID: 14680973
[TBL] [Abstract][Full Text] [Related]
10. Urinary galactitol and galactonate quantified by isotope-dilution gas chromatography-mass spectrometry.
Yager C; Wehrli S; Segal S
Clin Chim Acta; 2006 Apr; 366(1-2):216-24. PubMed ID: 16336956
[TBL] [Abstract][Full Text] [Related]
11. Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet.
Ning C; Reynolds R; Chen J; Yager C; Berry GT; Leslie N; Segal S
Mol Genet Metab; 2001 Apr; 72(4):306-15. PubMed ID: 11286504
[TBL] [Abstract][Full Text] [Related]
12. Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency.
Ning C; Reynolds R; Chen J; Yager C; Berry GT; McNamara PD; Leslie N; Segal S
Pediatr Res; 2000 Aug; 48(2):211-7. PubMed ID: 10926297
[TBL] [Abstract][Full Text] [Related]
13. Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype.
Ficicioglu C; Yager C; Segal S
Mol Genet Metab; 2005 Feb; 84(2):152-9. PubMed ID: 15670721
[TBL] [Abstract][Full Text] [Related]
14. An updated review of the long-term neurological effects of galactosemia.
Ridel KR; Leslie ND; Gilbert DL
Pediatr Neurol; 2005 Sep; 33(3):153-61. PubMed ID: 16087312
[TBL] [Abstract][Full Text] [Related]
15. Galactosemia: clinical features, diagnosis and management. A case report.
Lewis V; Welch F; Cherry F; Flood E; Marble M
J La State Med Soc; 1995 Jun; 147(6):262-5. PubMed ID: 7642981
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Homogeneous bioluminescence assay for galactosuria: interference and kinetic analysis.
Eu JY; Wang CY; Andrade J
Anal Biochem; 1999 Jul; 271(2):168-76. PubMed ID: 10419632
[TBL] [Abstract][Full Text] [Related]
18. Effectiveness of the screening programme for galactosemia. New strategy in Poland.
Radomyska B
Med Wieku Rozwoj; 2001; 5(1):51-8. PubMed ID: 11276504
[TBL] [Abstract][Full Text] [Related]
19. [A case of galactosemia caused by galactokinase deficiency].
Bolgiani MP; Gallenca M; Barocelli PC
Pediatr Med Chir; 1984; 6(2):333-5. PubMed ID: 6531256
[TBL] [Abstract][Full Text] [Related]
20. [The diagnosis of galactosemia: screening or clinical diagnosis?].
Derksen-Lubsen G
Ned Tijdschr Geneeskd; 1980 Jul; 124(30):1250-6. PubMed ID: 7412896
[No Abstract] [Full Text] [Related]
[Next] [New Search]