PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose-Reference-Cited by-同舟云学术

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

Published:2017-04 Issue:4 Volume:27 Page:370-376
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Voermans N.C.,Preisler N.,Madsen K.L.,Janssen M.C.H.,Kusters B.,Abu Bakar N.,Conte F.,Lamberti V.M.L.,Nusman F.,van Engelen B.G.,van Scherpenzeel M.,Vissing J.,Lefeber D.J.

Funder

Prinses Beatrix Spierfonds

Netherlands Organisation for Scientific Research

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference6 articles.

1. Multiple phenotypes in phosphoglucomutase 1 deficiency;Tegtmeyer;N Eng J Med,2014

2. Galactose supplementation in phosphoglucomutase-1 deficiency: review and outlook for a novel treatable CDG;Morava;Mol Genet Metab,2014

3. Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?;Preisler;Neurology,2012

4. Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III;Preisler;Neurology,2015

5. Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease – a long-term follow-up;Andreassen;Mol Genet Metab,2014

Cited by 34 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases;Journal of Inherited Metabolic Disease;2024-08-12

2. Coagulation abnormalities and vascular complications are common in PGM1-CDG;Molecular Genetics and Metabolism;2024-08

3. Congenital disorders of glucose metabolism in adults with nondiabetic hypoglycemia;Obesity and metabolism;2024-06-17

4. Oral sialic acid supplementation inNANS‐CDG: Results of a single center, open‐label, observational pilot study;Journal of Inherited Metabolic Disease;2023-07-08

5. AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG);Translational Research;2023-07