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 *

155 related articles for article (PubMed ID: 27612597)

  • 1. Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M.
    Koo B; Oskarsson B
    Neuromuscul Disord; 2016 Oct; 26(10):688-690. PubMed ID: 27612597
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama.
    Salameh J; Goyal N; Choudry R; Camelo-Piragua S; Chong PS
    Muscle Nerve; 2013 Jan; 47(1):138-40. PubMed ID: 23169535
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene.
    Tonin P; Bruno C; Cassandrini D; Savio C; Tavazzi E; Tomelleri G; Piccolo G
    Neuromuscul Disord; 2009 Nov; 19(11):776-8. PubMed ID: 19783439
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency.
    Oh SJ; Park KS; Ryan HF; Danon MJ; Lu J; Naini AB; DiMauro S
    Muscle Nerve; 2006 Nov; 34(5):572-6. PubMed ID: 16881065
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X.
    Nayab A; Alam Q; Alzahrani OR; Khan R; Sarfaraz S; Albaz AA; Rafeeq MM; Sain ZM; Waqas A; Umair M
    Eur J Med Genet; 2021 Sep; 64(9):104283. PubMed ID: 34237446
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency.
    Tsujino S; Shanske S; Sakoda S; Toscano A; DiMauro S
    Muscle Nerve Suppl; 1995; 3():S50-3. PubMed ID: 7603528
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Muscle phosphoglycerate mutase (PGAM) deficiency: a second case.
    Bresolin N; Ro YI; Reyes M; Miranda AF; DiMauro S
    Neurology; 1983 Aug; 33(8):1049-53. PubMed ID: 6308514
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred.
    Toscano A; Tsujino S; Vita G; Shanske S; Messina C; Dimauro S
    Muscle Nerve; 1996 Sep; 19(9):1134-7. PubMed ID: 8761269
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Muscle phosphoglycerate mutase deficiency: a study of a family with metabolic myopathy.
    Poulton KR; Khan AA; Rossi ML; Riddoch D
    Funct Neurol; 1994; 9(1):47-58. PubMed ID: 8082854
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene.
    Hadjigeorgiou GM; Kawashima N; Bruno C; Andreu AL; Sue CM; Rigden DJ; Kawashima A; Shanske S; DiMauro S
    Neuromuscul Disord; 1999 Oct; 9(6-7):399-402. PubMed ID: 10545043
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Muscle phosphoglycerate mutase deficiency revisited.
    Naini A; Toscano A; Musumeci O; Vissing J; Akman HO; DiMauro S
    Arch Neurol; 2009 Mar; 66(3):394-8. PubMed ID: 19273759
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy.
    DiMauro S; Miranda AF; Khan S; Gitlin K; Friedman R
    Science; 1981 Jun; 212(4500):1277-9. PubMed ID: 6262916
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Partial deficiency of phosphoglycerate mutase with diabetic polyneuropathy: the first Japanese patient.
    Kawashima N; Mishima M; Shindo R; Hirano M; Kuwabara S; Saitoh H; Miyazaki T
    Intern Med; 1996 Oct; 35(10):799-802. PubMed ID: 8933190
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Muscle phosphoglycerate mutase (PGAM) deficiency in the first Caucasian patient: biochemistry, muscle culture and 31P-MR spectroscopy.
    Vita G; Toscano A; Bresolin N; Meola G; Fortunato F; Baradello A; Barbiroli B; Frassineti C; Zaniol P; Messina C
    J Neurol; 1994 Mar; 241(5):289-94. PubMed ID: 8006681
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Phosphoglycerate mutase deficiency].
    Tsujino S
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):74-6. PubMed ID: 9589993
    [No Abstract]   [Full Text] [Related]  

  • 16. Muscle phosphoglycerate mutase deficiency.
    DiMauro S; Miranda AF; Olarte M; Friedman R; Hays AP
    Neurology; 1982 Jun; 32(6):584-91. PubMed ID: 6283419
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset.
    Joshi PR; Knape M; Zierz S; Deschauer M
    Acta Neuropathol; 2009 Jun; 117(6):723-5. PubMed ID: 19322572
    [No Abstract]   [Full Text] [Related]  

  • 18. Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test.
    Kissel JT; Beam W; Bresolin N; Gibbons G; DiMauro S; Mendell JR
    Neurology; 1985 Jun; 35(6):828-33. PubMed ID: 2987758
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Characterization of the first described mutation of human red blood cell phosphoglycerate mutase.
    de Atauri P; Repiso A; Oliva B; Vives-Corrons JL; Climent F; Carreras J
    Biochim Biophys Acta; 2005 Jun; 1740(3):403-10. PubMed ID: 15949708
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD.
    Westermann CM; Dorland L; van Diggelen OP; Schoonderwoerd K; Bierau J; Waterham HR; van der Kolk JH
    Mol Genet Metab; 2011 Nov; 104(3):273-8. PubMed ID: 21843962
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.