Acute renal failure in a patient with phosphofructokinase deficiency.
- Published in:
- Pediatric Nephrology, 2004, v. 19, n. 1, p. 111, doi. 10.1007/s00467-003-1321-z
- By:
- Publication type:
- Article
Works matching Glycogen storage disease type VII
Results: 18
1
2
Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1422908
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- Publication type:
- Article
3
Clinical features and genetic analysis of 7 patients with late - onset glycogen storage disease type II.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 5, p. 405, doi. 10.3969/j.issn.1672.6731.2014.05.008
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- Publication type:
- Article
4
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
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- Publication type:
- Article
5
Phosphofructo-1-Kinase Deficiency Leads to a Severe Cardiac and Hematological Disorder in Addition to Skeletal Muscle Glycogenosis.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 8, p. 1, doi. 10.1371/journal.pgen.1000615
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- Publication type:
- Article
6
Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00077
- By:
- Publication type:
- Article
7
Reporting a Novel Gene Mutation in Glycogen Storage Disease Type VII (Tarui Disease).
- Published in:
- 2025
- By:
- Publication type:
- Letter
8
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 573, doi. 10.1007/s10545-014-9789-1
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- Publication type:
- Article
9
Infantile form of muscle phosphofructokinase deficiency in a premature neonate.
- Published in:
- Pediatrics International, 2015, v. 57, n. 4, p. 746, doi. 10.1111/ped.12616
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- Publication type:
- Article
10
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
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- Publication type:
- Article
11
Hepatocellular adenoma in glycogen storage disorder type I: a clinicopathological and molecular study.
- Published in:
- Histopathology, 2012, v. 60, n. 6B, p. E58, doi. 10.1111/j.1365-2559.2011.04153.x
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- Publication type:
- Article
12
Anesthetic complications in patients with inborn errors of metabolism undergoing non-cardiac surgery.
- Published in:
- Colombian Journal of Anesthesiology / Revista Colombiana de Anestesiología, 2013, v. 41, n. 4, p. 257
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- Publication type:
- Article
13
Metabolic disorders in foals.
- Published in:
- Equine Veterinary Education, 2012, v. 24, n. 8, p. 392, doi. 10.1111/j.2042-3292.2011.00376.x
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- Publication type:
- Article
14
A Young Hockey Player and 'Asthma.'.
- Published in:
- Physician & Sportsmedicine, 2002, v. 30, n. 6, p. 45
- Publication type:
- Article
15
Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs.
- Published in:
- 2003
- By:
- Publication type:
- journal article
16
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
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- Publication type:
- Article
17
Update on polyglucosan storage diseases.
- Published in:
- 2019
- By:
- Publication type:
- journal article
18
Inborn Errors of Energy Metabolism Associated with Myopathies.
- Published in:
- Journal of Biomedicine & Biotechnology, 2010, p. 1, doi. 10.1155/2010/340849
- By:
- Publication type:
- Article