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Clinical Therapeutics, ISSN 0149-2918, 2011, Volume 33, Issue 6, pp. S4 - S4
  The diagnosis of Pompe disease is not always easy and immediate; when it is delayed and the specific enzyme replacement therapy (ERT) is started late,... 
Internal Medicine | Medical Education | Health aspects | Children | Biomarkers | Medical treatment | Children & youth
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2019, Volume 56, Issue 5, pp. 293 - 300
Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder, due to the loss of function of the survival motor neuron (SMN1)... 
salbutamol | spinal muscular atrophy | real-time PCR | double-blind clinical trial | SHAM CONTROL | NUSINERSEN | PILOT TRIAL | GENETICS & HEREDITY
Journal Article
Journal of Neurology, ISSN 0340-5354, 3/2014, Volume 261, Issue 3, pp. 504 - 510
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 08/2012, Volume 13, Issue 1, pp. 73 - 73
Journal Article
Journal of Neurology, ISSN 0340-5354, 5/2015, Volume 262, Issue 5, pp. 1301 - 1309
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 591 - 600
Purpose: We studied microRNAs as potential biomarkers for Pompe disease. Methods: We analyzed microRNA expression by small RNA-seq in tissues from the disease... 
microRNAs | Pompe disease | Next-generation sequencing | miR-133a | Enzyme replacement therapy | RECOGNITION | GENE | GENETICS & HEREDITY | ACID ALPHA-GLUCOSIDASE | INFANTILE
Journal Article
Journal of Neurology, ISSN 0340-5354, 06/2016, Volume 263, Issue 6, pp. 1204 - 1214
Journal Article
Muscle & Nerve, ISSN 0148-639X, 08/2010, Volume 42, Issue 2, pp. 213 - 217
Journal Article
FRONTIERS IN NEUROLOGY, ISSN 1664-2295, 02/2019, Volume 10, p. 160
Lipomas have often been associated with mtDNA mutations and were mainly observed in patients with mutation in mitochondrial tRNAlysine which is also the most... 
mitochondrial myopathy | MERRF | NEUROPATHY | brown fat | MUTATION | madelung's disease | multiple symmetrical lipomatosis | DYSFUNCTION | NEUROSCIENCES | MULTIPLE SYMMETRIC LIPOMATOSIS | CLINICAL NEUROLOGY
Journal Article
BMJ Open, ISSN 2044-6055, 01/2016, Volume 6, Issue 1, p. e007798
Journal Article