156 related articles for article (PubMed ID: 25595217)
1. Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.
Bijarnia-Mahay S; Movva S; Gupta N; Sharma D; Puri RD; Kotecha U; Saxena R; Kabra M; Mohan N; Verma IC
JIMD Rep; 2015; 19():85-93. PubMed ID: 25595217
[TBL] [Abstract][Full Text] [Related]
2. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation.
Gorospe JR; Singhal BS; Kainu T; Wu F; Stephan D; Trent J; Hoffman EP; Naidu S
Neurology; 2004 Mar; 62(6):878-82. PubMed ID: 15037685
[TBL] [Abstract][Full Text] [Related]
3. Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
Esposito G; Imperato MR; Ieno L; Sorvillo R; Benigno V; Parenti G; Parini R; Vitagliano L; Zagari A; Salvatore F
Hum Mutat; 2010 Dec; 31(12):1294-303. PubMed ID: 20848650
[TBL] [Abstract][Full Text] [Related]
4. Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.
Coffee EM; Yerkes L; Ewen EP; Zee T; Tolan DR
J Inherit Metab Dis; 2010 Feb; 33(1):33-42. PubMed ID: 20033295
[TBL] [Abstract][Full Text] [Related]
5. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.
Santer R; Rischewski J; von Weihe M; Niederhaus M; Schneppenheim S; Baerlocher K; Kohlschütter A; Muntau A; Posselt HG; Steinmann B; Schneppenheim R
Hum Mutat; 2005 Jun; 25(6):594. PubMed ID: 15880727
[TBL] [Abstract][Full Text] [Related]
6. Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls.
Adamowicz M; Płoski R; Rokicki D; Morava E; Gizewska M; Mierzewska H; Pollak A; Lefeber DJ; Wevers RA; Pronicka E
J Inherit Metab Dis; 2007 Jun; 30(3):407. PubMed ID: 17457694
[TBL] [Abstract][Full Text] [Related]
7. Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene.
Khadilkar SV; Chaudhari CR; Dastur RS; Gaitonde PS; Yadav JG
Ann Indian Acad Neurol; 2016; 19(1):108-11. PubMed ID: 27011640
[TBL] [Abstract][Full Text] [Related]
8. Isolation and characterization of a mutant liver aldolase in adult hereditary fructose intolerance. Identification of the enzyme variant by radioassay in tissue biopsy specimens.
Cox TM; O'Donnell MW; Camilleri M; Burghes AH
J Clin Invest; 1983 Jul; 72(1):201-13. PubMed ID: 6348085
[TBL] [Abstract][Full Text] [Related]
9. Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.
Li H; Byers HM; Diaz-Kuan A; Vos MB; Hall PL; Tortorelli S; Singh R; Wallenstein MB; Allain M; Dimmock DP; Farrell RM; McCandless S; Gambello MJ
Mol Genet Metab; 2018 Apr; 123(4):428-432. PubMed ID: 29510902
[TBL] [Abstract][Full Text] [Related]
10. Aldolase B mutations in Italian families affected by hereditary fructose intolerance.
Sebastio G; de Franchis R; Strisciuglio P; Andria G; Dionisi Vici C; Sabetta G; Gatti R; Cross NC; Cox TM
J Med Genet; 1991 Apr; 28(4):241-3. PubMed ID: 1856829
[TBL] [Abstract][Full Text] [Related]
11. Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.
Tolan DR
Hum Mutat; 1995; 6(3):210-8. PubMed ID: 8535439
[TBL] [Abstract][Full Text] [Related]
12. Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance.
Kriegshäuser G; Halsall D; Rauscher B; Oberkanins C
Mol Cell Probes; 2007 Jun; 21(3):226-8. PubMed ID: 17292585
[TBL] [Abstract][Full Text] [Related]
13. A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance.
Choi HW; Lee YJ; Oh SH; Kim KM; Ryu JM; Lee BH; Kim GH; Yoo HW
Gut Liver; 2012 Jan; 6(1):126-8. PubMed ID: 22375183
[TBL] [Abstract][Full Text] [Related]
14. Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.
Esposito G; Santamaria R; Vitagliano L; Ieno L; Viola A; Fiori L; Parenti G; Zancan L; Zagari A; Salvatore F
Hum Mutat; 2004 Dec; 24(6):534. PubMed ID: 15532022
[TBL] [Abstract][Full Text] [Related]
15. Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene.
Brooks CC; Tolan DR
Am J Hum Genet; 1993 Apr; 52(4):835-40. PubMed ID: 8096362
[TBL] [Abstract][Full Text] [Related]
16. The diagnosis of hereditary fructose intolerance.
Steinmann B; Gitzelmann R
Helv Paediatr Acta; 1981 Sep; 36(4):297-316. PubMed ID: 6268573
[TBL] [Abstract][Full Text] [Related]
17. Case report: heterogeneity of aldolase B in hereditary fructose intolerance.
Kaiser UB; Hegele RA
Am J Med Sci; 1991 Dec; 302(6):364-8. PubMed ID: 1772121
[TBL] [Abstract][Full Text] [Related]
18. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
Jensen HK
Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
[TBL] [Abstract][Full Text] [Related]
19. Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.
Cross NC; Tolan DR; Cox TM
Cell; 1988 Jun; 53(6):881-5. PubMed ID: 3383242
[TBL] [Abstract][Full Text] [Related]
20. [Hereditary fructose intolerance].
Lopes AI; Almeida AG; Costa AE; Costa A; Leite M
Acta Med Port; 1998 Dec; 11(12):1121-5. PubMed ID: 10192989
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]