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Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy
Lefeuvre C, Schaeffer S, Carlier RY, et al.
Molecular genetics and metabolism reports, 2020, 24
Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort
Piraud M, Pettazzoni M, De Antonio M, et al.
Molecular genetics and metabolism reports, 2020, 23
Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease
Jones HN, Fernandes S, Hannah WB, et al.
Molecular genetics and metabolism reports, 2020, 23
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences
Chien YH, Tsai WH, Chang CL, et al.
Molecular genetics and metabolism reports, 2020, 23
Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa
Marusic T, Zerjav Tansek M, Sirca Campa A, et al.
Molecular genetics and metabolism reports, 2020, 24
Behavioral, social and school functioning in children with Pompe disease
Korlimarla A, Spiridigliozzi GA, Stefanescu M, et al.
Molecular genetics and metabolism reports, 2020, 25
MLASA1 is a poly-phenic but not a di-phenic condition
Finsterer J
Molecular genetics and metabolism reports, 2019, 21
Response: Late-onset Pompe disease manifests in the brain
Schneider I, Hensel O, Zierz S
Molecular genetics and metabolism reports, 2019, 21
Molecular based newborn screening in Germany: Follow-up for cystinosis
Hohenfellner K, Bergmann C, Fleige T, et al.
Molecular genetics and metabolism reports, 2019, 21
Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up
Woods J, Cederbaum S
Molecular genetics and metabolism reports, 2019, 21
Late-onset Pompe disease manifests in the brain
Finsterer J
Molecular genetics and metabolism reports, 2019
Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis
Sambuughin N, Mungunsukh O, Ren M, et al.
Molecular genetics and metabolism reports, 2018, 16, p 76
Renal artery fibromuscular dysplasia in Pompe disease: A case report
Pappa E, Papadopoulos C, Grimbert P, et al.
Molecular genetics and metabolism reports, 2018, 16, p 64
The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients
Al-Hassnan ZN, Al-Hassnan ZN, Khalifa OA, et al.
Molecular genetics and metabolism reports, 2018, 15, p 50
Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation
Watanabe K, Watanabe K, Yamada K, et al.
Molecular genetics and metabolism reports, 2018, 15, p 121
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency
Fan X, Fan X, Xie B, et al.
Molecular genetics and metabolism reports, 2018, 16, p 15
Pompe disease treatment with twice a week high dose alglucoside alfa in a patient with severe dilated cardiomyopathy
Landis JL, Landis JL, Hyland H, et al.
Molecular genetics and metabolism reports, 2018, 16
Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review
Iijima H, Iijima H, Iwano R, et al.
Molecular genetics and metabolism reports, 2018, 17, p 31
Dilative arteriopathy in Pompe disease may not only affect the cerebral arteries
Finsterer J
Molecular genetics and metabolism reports, 2018, 17
Novel heterozygous mutations in the PGAM2 gene with negative exercise testing
Sidhu M, Brady L, Vladutiu GD, et al.
Molecular genetics and metabolism reports, 2018, 17, p 53
Only some patients with bulbar and spinal muscular atrophy may develop cardiac disease
Finsterer J, Stollberger C
Molecular genetics and metabolism reports, 2017, 14, p 44
Hypothyroidism in late-onset Pompe disease
Schneider J, Burmeister LA, Rudser K, et al.
Molecular genetics and metabolism reports, 2016, 8, p 24
Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy
Gruhn KM, Heyer CM, Guttsches AK, et al.
Molecular genetics and metabolism reports, 2015, 3, p 58
