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Volumn 27, Issue 4, 2017, Pages 370-376

PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose

Author keywords

Congenital disorder of protein N glycosylation; Glycogen Storage Disease type XIV; Oral galactose treatment; PGM1 deficiency; Phosphoglucomutase 1

Indexed keywords

CARBOHYDRATE; FAT; GALACTOSE; TRANSFERRIN;

EID: 85012910678     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2017.01.014     Document Type: Article
Times cited : (34)

References (6)
  • 1
    • 84893589222 scopus 로고    scopus 로고
    • Multiple phenotypes in phosphoglucomutase 1 deficiency
    • [1] Tegtmeyer, L.C., Rust, S., van Scherpenzeel, M., et al. Multiple phenotypes in phosphoglucomutase 1 deficiency. N Eng J Med 370 (2014), 533–542.
    • (2014) N Eng J Med , vol.370 , pp. 533-542
    • Tegtmeyer, L.C.1    Rust, S.2    van Scherpenzeel, M.3
  • 2
    • 84905218061 scopus 로고    scopus 로고
    • Galactose supplementation in phosphoglucomutase-1 deficiency: review and outlook for a novel treatable CDG
    • [2] Morava, E., Galactose supplementation in phosphoglucomutase-1 deficiency: review and outlook for a novel treatable CDG. Mol Genet Metab 112 (2014), 275–279.
    • (2014) Mol Genet Metab , vol.112 , pp. 275-279
    • Morava, E.1
  • 3
    • 84857711328 scopus 로고    scopus 로고
    • Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?
    • [3] Preisler, N., Orngreen, M.C., Echaniz-Laguna, A., et al. Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?. Neurology 78 (2012), 265–268.
    • (2012) Neurology , vol.78 , pp. 265-268
    • Preisler, N.1    Orngreen, M.C.2    Echaniz-Laguna, A.3
  • 4
    • 84929118582 scopus 로고    scopus 로고
    • Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III
    • [4] Preisler, N., Laforet, P., Madsen, K.L., et al. Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III. Neurology 84 (2015), 1767–1771.
    • (2015) Neurology , vol.84 , pp. 1767-1771
    • Preisler, N.1    Laforet, P.2    Madsen, K.L.3
  • 5
    • 84899627455 scopus 로고    scopus 로고
    • Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease – a long-term follow-up
    • [5] Andreassen, C.S., Schlutter, J.M., Vissing, J., Andersen, H., Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease – a long-term follow-up. Mol Genet Metab 112 (2014), 40–43.
    • (2014) Mol Genet Metab , vol.112 , pp. 40-43
    • Andreassen, C.S.1    Schlutter, J.M.2    Vissing, J.3    Andersen, H.4
  • 6
    • 84903821204 scopus 로고    scopus 로고
    • Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study
    • [6] Deroma, L., Guerra, M., Sechi, A., et al. Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study. Eur J Pediatr 173 (2014), 805–813.
    • (2014) Eur J Pediatr , vol.173 , pp. 805-813
    • Deroma, L.1    Guerra, M.2    Sechi, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.