Works matching Tarui's disease

Results: 19

Unique exercise Lactate profile in Muscle phosphofructokinase deficiency (tarui disease); difference Compared with Mcardle disease.

Published in:

Frontiers in Neurology, 2016, p. 1, doi. 10.3389/fneur.2016.00082

By:

Piirilä, Päivi;
Similä, Minna E.;
Palmio, Johanna;
Wuorimaa, Tomi;
Ylikallio, Emil;
Sandell, Satu;
Haapalahti, Petri;
Uotila, Lasse;
Tyynismaa, Henna;
Udd, Bjarne;
Auranen, Mari;
Subramony, S. H.;
Gilchrist, James

Publication type:

Article

Increased erythrocyte content of Ca2+ in patients with Tarui's disease.

Published in:

2001

By:

Waldenström, A.;
Engström, I.;
Ronquist, G.;
Waldenström, A;
Engström, I

Publication type:

journal article

Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease).

Published in:

Muscle & Nerve, 1995, v. 18, n. S14, p. S35, doi. 10.1002/mus.880181409

By:

Raben, Nina;
Sherman, Jeffrey B.;
Adams, Elizabeth;
Nakajima, Hiromu;
Argov, Zohar;
Plotz, Paul

Publication type:

Article

Progressive Mitral Valve Thickening and Progressive Muscle Cramps as Manifestations of Glycogenosis VII (Tarui’s Disease).

Published in:

Cardiology, 2008, v. 110, n. 4, p. 238, doi. 10.1159/000112406

By:

Finsterer, Josef;
Stöllberger, Claudia

Publication type:

Article

Reporting a Novel Gene Mutation in Glycogen Storage Disease Type VII (Tarui Disease).

Published in:

2025

By:

Gupta, Manisha;
Sangeeth, Thuppanattumadam A;
Sukrutha, Ramya;
Udupi, Gautham A;
Kumar, Rashmi S;
Nanjegowda, Nandeesh B;
Kulkarni, Girish B

Publication type:

Letter

A comparative study on glucagon effect between mcardle disease and tarui disease.

Published in:

Muscle & Nerve, 1984, v. 7, n. 7, p. 552, doi. 10.1002/mus.880070706

By:

Mineo, Ikuo;
Kono, Norio;
Shimizu, Takao;
Sumi, Seiichi;
Nonaka, Kyohei;
Tarui, Seiichiro

Publication type:

Article

Familial phosphofructokinase deficiency is associated with a disturbed calcium homeostasis in erythrocytes.

Published in:

2001

By:

Ronquist, G.;
Rudolphi, O.;
Engström, I.;
Waldenström, A.;
Engström, I;
Waldenström, A

Publication type:

journal article

Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII).

Published in:

Frontiers in Neurology, 2020, p. 1, doi. 10.3389/fneur.2020.00057

By:

Similä, Minna E.;
Auranen, Mari;
Piirilä, Päivi Liisa

Publication type:

Article

Crystal structure of human platelet phosphofructokinase-1 locked in an activated conformation.

Published in:

Biochemical Journal, 2015, v. 469, n. 3, p. 421, doi. 10.1042/BJ20150251

By:

Kloos, Marco;
Brüser, Antje;
Kirchberger, Jürgen;
Schöneberg, Torsten;
Sträter, Norbert

Publication type:

Article

Metabolic Myopathies in the Era of Next-Generation Sequencing.

Published in:

Genes, 2023, v. 14, n. 5, p. 954, doi. 10.3390/genes14050954

By:

Urtizberea, Jon Andoni;
Severa, Gianmarco;
Malfatti, Edoardo

Publication type:

Article

Structures of human phosphofructokinase-1 and atomic basis of cancer-associated mutations.

Published in:

Nature, 2015, v. 523, n. 7558, p. 111, doi. 10.1038/nature14405

By:

Webb, Bradley A.;
Forouhar, Farhad;
Szu, Fu-En;
Seetharaman, Jayaraman;
Tong, Liang;
Barber, Diane L.

Publication type:

Article

Cloning and Characterization of the Human Muscle Phosphofructokinase Gene.

Published in:

DNA & Cell Biology, 1992, v. 11, n. 6, p. 461, doi. 10.1089/dna.1992.11.461

By:

VAISANEN, PIRJO A.;
REDDY, G. ROMAN;
SHARMA, PREM M.;
KOHANI, ROYA;
JOHNSON, JENNIFER L.;
RANEY, ANNEKE K.;
BABIOR, BERNARD M.;
McLACHLAN, ALAN

Publication type:

Article

Exercise efficiency impairment in metabolic myopathies.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65770-y

By:

Noury, Jean-Baptiste;
Zagnoli, Fabien;
Petit, François;
Marcorelles, Pascale;
Rannou, Fabrice

Publication type:

Article

Deficiency of phosphofructo-1-kinase/muscle subtype in humans is associated with impairment of insulin secretory oscillations.

Published in:

1999

By:

Ristow, Michael;
Carlqvist, Hakan;
Hebinck, Judith;
Vorgerd, Matthias;
Krone, Wilhelm;
Pfeiffer, Andreas;
Muller-Wieland, Dirk;
Ostenson, Claes-Goran;
Ristow, M;
Carlqvist, H;
Hebinck, J;
Vorgerd, M;
Krone, W;
Pfeiffer, A;
Müller-Wieland, D;
Ostenson, C G

Publication type:

journal article

A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease.

Published in:

Biochemical Journal, 2017, v. 474, n. 20, p. 3403, doi. 10.1042/BCJ20170469

By:

Solmesky, Leonardo J.;
Khazanov, Netaly;
Senderowitz, Hanoch;
Peixiang Wang;
Minassian, Berge A.;
Ferreira, Igor M.;
Yue, Wyatt W.;
Lossos, Alexander;
Weil, Miguel;
Kakhlon, Or

Publication type:

Article

Imbalance of plasma membrane ion leak and pump relationship as a new aetiological basis of certain disease states.

Published in:

2003

By:

Ronquist G;
Waldenström A;
Ronquist, G;
Waldenström, A

Publication type:

journal article

REVIEW Imbalance of plasma membrane ion leak and pump relationship as a new aetiological basis of certain disease states.

Published in:

Journal of Internal Medicine, 2003, v. 254, n. 6, p. 517, doi. 10.1111/j.1365-2796.2003.01235.x

By:

Ronquist, G.;
Waldenström, A.

Publication type:

Article

Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms.

Published in:

European Journal of Neurology, 2000, v. 7, n. 1, p. 111, doi. 10.1046/j.1468-1331.2000.00012.x

By:

Aasly, J.;
van Diggelen, O. P.;
Boer, A. M.;
Brønstad, G.

Publication type:

Article

Free Mg<sup>2+</sup> concentration in the calf muscle of glycogen phosphorylase and phosphofructokinase deficiency patients assessed in different metabolic conditions by <sup>31</sup>P MRS.

Published in:

Dynamic Medicine, 2005, v. 4, p. 1, doi. 10.1186/1476-5918-4-7

By:

Malucelli, Emil;
Lodi, Raffaele;
Martinuzzi, Andrea;
Tonon, Caterina;
Barbiroli, Bruno;
Iotti, Stefano

Publication type:

Article