2022
DOI: 10.1016/j.nmd.2022.07.147
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VP.30 Neurofilament light as a biomarker for involvement of the brain in classic infantile Pompe patients

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Cited by 3 publications
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“…The gene is found on 17q25.3 chromosome region . This rare, prevalence of 1:18,702 births, hereditary metabolic disease is predominantly manifested by muscle weakness and is therefore also classified as a myopathy [15][16][17]. The prevalence of the adult form is estimated at 1:57,000 and that of the infantile form at 1:138,000 [3][4][5][6][7][8][9][10][11][12][13][14].…”
Section: Discussionmentioning
confidence: 99%
“…The gene is found on 17q25.3 chromosome region . This rare, prevalence of 1:18,702 births, hereditary metabolic disease is predominantly manifested by muscle weakness and is therefore also classified as a myopathy [15][16][17]. The prevalence of the adult form is estimated at 1:57,000 and that of the infantile form at 1:138,000 [3][4][5][6][7][8][9][10][11][12][13][14].…”
Section: Discussionmentioning
confidence: 99%
“…a Residual alpha glucosidase enzyme activity, measured in fibroblasts (nmol/mg/h). b Group level data published in Mackenbach et al21 c Short follow-up published in Ebbink et al8 d Patient was diagnosed abroad, therefore enzyme activity in fibroblasts was not available in our hospital, symptom onset was <2.6 months.…”
mentioning
confidence: 99%