These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

143 related articles for article (PubMed ID: 10612834)

  • 21. 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]  

  • 22. Hypercalcemia in glycogen storage disease type I patients of Turkish origin.
    Kasapkara CS; Tümer L; Okur I; Eminoğlu T; Ezgü FS; Hasanoğlu A
    Turk J Pediatr; 2012; 54(1):35-7. PubMed ID: 22397040
    [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. Glycogen storage disease type IX: High variability in clinical phenotype.
    Beauchamp NJ; Dalton A; Ramaswami U; Niinikoski H; Mention K; Kenny P; Kolho KL; Raiman J; Walter J; Treacy E; Tanner S; Sharrard M
    Mol Genet Metab; 2007; 92(1-2):88-99. PubMed ID: 17689125
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. Rapid detection of glycogen storage disease type Ia by DNA microarray.
    Xu S; Qin S; Gu X; Qiu W; Ye J; Han L; He L
    Clin Chem Lab Med; 2010 Sep; 48(9):1229-34. PubMed ID: 20509832
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia.
    Reddy SK; Kishnani PS; Sullivan JA; Koeberl DD; Desai DM; Skinner MA; Rice HE; Clary BM
    J Hepatol; 2007 Nov; 47(5):658-63. PubMed ID: 17637480
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
    Lucchiari S; Fogh I; Prelle A; Parini R; Bresolin N; Melis D; Fiori L; Scarlato G; Comi GP
    Am J Med Genet; 2002 May; 109(3):183-90. PubMed ID: 11977176
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Glycogen storage diseases in Thai patients: Phramongkutklao Hospital experience.
    Kamolsilp M
    J Med Assoc Thai; 2005 Nov; 88 Suppl 3():S295-301. PubMed ID: 16858972
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.
    Rubio JC; Garcia-Consuegra I; Nogales-Gadea G; Blazquez A; Cabello A; Lucia A; Andreu AL; Arenas J; Martin MA
    Hum Mutat; 2007 Feb; 28(2):203-4. PubMed ID: 17221871
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.
    Rake JP; ten Berge AM; Visser G; Verlind E; Niezen-Koning KE; Buys CH; Smit GP; Scheffer H
    Hum Mutat; 2000 Apr; 15(4):381. PubMed ID: 10737986
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia.
    Koeberl DD; Sun BD; Damodaran TV; Brown T; Millington DS; Benjamin DK; Bird A; Schneider A; Hillman S; Jackson M; Beaty RM; Chen YT
    Gene Ther; 2006 Sep; 13(17):1281-9. PubMed ID: 16672983
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III.
    Horinishi A; Okubo M; Tang NL; Hui J; To KF; Mabuchi T; Okada T; Mabuchi H; Murase T
    J Hum Genet; 2002; 47(2):55-9. PubMed ID: 11924557
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Prenatal diagnosis of glycogen storage disease type Ia, presenting a new mutation in the glucose-6-phosphatase gene.
    Li DZ; Liao C; Tang XW
    Prenat Diagn; 2007 Jul; 27(7):685-6. PubMed ID: 17607665
    [No Abstract]   [Full Text] [Related]  

  • 38. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I.
    Visser G; Rake JP; Fernandes J; Labrune P; Leonard JV; Moses S; Ullrich K; Smit GP
    J Pediatr; 2000 Aug; 137(2):187-91. PubMed ID: 10931410
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.
    Trioche P; Petit F; Francoual J; Gajdos V; Capel L; Poüs C; Labrune P
    J Inherit Metab Dis; 2004; 27(5):621-3. PubMed ID: 15669677
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Gouty tendinitis revealing glycogen storage disease Type Ia in two adolescents.
    Carvès C; Duquenoy A; Toutain F; Trioche P; Zarnitski C; Le Roux P; Le Luyer B
    Joint Bone Spine; 2003 Mar; 70(2):149-53. PubMed ID: 12713862
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.