211 related articles for article (PubMed ID: 15696478)
21. Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.
Kishnani PS; Chuang TP; Bali D; Koeberl D; Austin S; Weinstein DA; Murphy E; Chen YT; Boyette K; Liu CH; Chen YT; Li LH
Hum Mol Genet; 2009 Dec; 18(24):4781-90. PubMed ID: 19762333
[TBL] [Abstract][Full Text] [Related]
22. [Prenatal gene diagnosis of oculocutaneous albinism type I].
Li HY; Wu WI; Zheng H; Duan HL; Chen Z; Chen LM
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun; 23(3):280-2. PubMed ID: 16767664
[TBL] [Abstract][Full Text] [Related]
23. A case of glycogen storage disease type Ia with multiple hepatic adenomas and G727T mutation in the glucose-6-phosphatase gene, and a comparison with other mutations previously reported.
Karasawa Y; Kobayashi M; Nakano Y; Aoki Y; Kawa S; Kiyosawa K; Seki H; Kawasaki S; Furihata K; Itoh N
Am J Gastroenterol; 1998 Sep; 93(9):1550-3. PubMed ID: 9732943
[TBL] [Abstract][Full Text] [Related]
24. Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.
Barkaoui E; Cherif W; Tebib N; Charfeddine C; Ben Rhouma F; Azzouz H; Ben Chehida A; Monastiri K; Chemli J; Amri F; Ben Turkia H; Abdelmoula MS; Kaabachi N; Abdelhak S; Ben Dridi MF
J Inherit Metab Dis; 2007 Nov; 30(6):989. PubMed ID: 18008183
[TBL] [Abstract][Full Text] [Related]
25. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.
Veiga-da-Cunha M; Gerin I; Chen YT; Lee PJ; Leonard JV; Maire I; Wendel U; Vikkula M; Van Schaftingen E
Eur J Hum Genet; 1999 Sep; 7(6):717-23. PubMed ID: 10482962
[TBL] [Abstract][Full Text] [Related]
26. Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
Rake JP; ten Berge AM; Visser G; Verlind E; Niezen-Koning KE; Buys CH; Smit GP; Scheffer H
Eur J Pediatr; 2000 May; 159(5):322-30. PubMed ID: 10834516
[TBL] [Abstract][Full Text] [Related]
27. Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients.
Qiu WJ; Gu XF; Ye J; Han LSh; Zhang YF; Liu XQ
J Inherit Metab Dis; 2003; 26(8):811-2. PubMed ID: 14765536
[TBL] [Abstract][Full Text] [Related]
28. [Application of enzyme assay and gene analysis in the prenatal diagnosis for a family with glycogen storage disease type II].
Zeng MH; Qiu WJ; Gu XF; Wang Y; Zhou JD; Ye J; Han LS; Zhang HW
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Jun; 28(3):261-5. PubMed ID: 21644219
[TBL] [Abstract][Full Text] [Related]
29. Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene.
Wong LJ; Liang MH; Hwu WL; Lam CW
Hum Genet; 1998 Aug; 103(2):199-203. PubMed ID: 9760206
[TBL] [Abstract][Full Text] [Related]
30. Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay.
Morel CF; Scott P; Christensen E; Rosenblatt DS; Rozen R
Mol Genet Metab; 2005 Jun; 85(2):115-20. PubMed ID: 15896655
[TBL] [Abstract][Full Text] [Related]
31. Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online.
Trioche P; Francoual J; Chalas J; Capel L; Bernard O; Labrune P
Hum Mutat; 1999; 14(1):91. PubMed ID: 10447271
[TBL] [Abstract][Full Text] [Related]
32. Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie.
Cherif W; Rhouma FB; Chehida AB; Azzouz H; Monastiri K; Amri F; Chemli J; Kaabachi N; Abdelhak S; Tebib N; Dridi MF
Pathol Biol (Paris); 2011 Aug; 59(4):e93-6. PubMed ID: 19896294
[TBL] [Abstract][Full Text] [Related]
33. Prenatal diagnosis of factor X deficiency using a combination of direct mutation detection and linkage analysis with an intragenic single nucleotide polymorphism.
Camire R; Ann Denchy R; Day GA; Lanzano P; Sheth S; Brown S
Prenat Diagn; 2003 Jun; 23(6):457-60. PubMed ID: 12813758
[TBL] [Abstract][Full Text] [Related]
34. [Improvement of gene analysis method in hemophilia A and its application of prenatal diagnosis].
Liang Y; Zhao Y; Wang ZY; Yan M; Xiao B; Liu JZ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug; 24(4):437-9. PubMed ID: 17680537
[TBL] [Abstract][Full Text] [Related]
35. Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.
Rosenmann A; Bejarano-Achache I; Eli D; Maftsir G; Mizrahi-Meissonnier L; Blumenfeld A
Prenat Diagn; 2009 Oct; 29(10):939-46. PubMed ID: 19626598
[TBL] [Abstract][Full Text] [Related]
36. Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a.
Lam CW; But WM; Shek CC; Tong SF; Chan YS; Choy KW; Tse WY; Pang CP; Hjelm NM
Clin Genet; 1998 Mar; 53(3):184-90. PubMed ID: 9630072
[TBL] [Abstract][Full Text] [Related]
37. Molecular genetics of type 1 glycogen storage disease.
Janecke AR; Mayatepek E; Utermann G
Mol Genet Metab; 2001 Jun; 73(2):117-25. PubMed ID: 11386847
[TBL] [Abstract][Full Text] [Related]
38. Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a.
Shieh JJ; Lu YH; Huang SW; Huang YH; Sun CH; Chiou HJ; Liu C; Lo MY; Lin CY; Niu DM
Gene; 2012 Nov; 509(1):154-7. PubMed ID: 22909800
[TBL] [Abstract][Full Text] [Related]
39. Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.
Mahmoud SK; Khorrami A; Rafeey M; Ghergherehchi R; Sima MD
J Genet; 2017 Mar; 96(1):19-23. PubMed ID: 28360385
[TBL] [Abstract][Full Text] [Related]
40. G6PC mutations in two patients with glycogen storage disease type Ia in Thailand.
Kamolsilp M; Okubo M
Acta Paediatr; 2010 Feb; 99(2):164. PubMed ID: 19832742
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]