Results 51 to 60 of about 22,388 (216)
Pompe disease in children and adults: natural course, disease severity and impact on daily life; results from an international patient survey [PDF]
, 2006 Pompe disease is a lysosomal storage disorder caused by deficiency of the enzyme acid alpha-glucosidase and mainly characterized by progressive skeletal muscle weakness.
Hagemans, M.L.C. (Marloes)
core +6 more sources
Survival, Quality of Life and Effects of Enzyme Replacement Therapy in Adults with Pompe Disease [PDF]
, 2013 Pompe disease, or glycogen storage disorder type II, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme acid α-glucosidase.
Güngör, D. (Deniz)
core +1 more source
Bandt-Pompe symbolization dynamics for time series with tied values: A data-driven approach [PDF]
, 2018 In 2002, Bandt and Pompe [Phys. Rev. Lett. 88, 174102 (2002)] introduced a successfully symbolic encoding scheme based on the ordinal relation between the amplitude of neighboring values of a given data sequence, from which the permutation entropy can be
Alejandro C. Frery +8 more
core +2 more sources
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Stem Cell Research, 2022 Pompe disease results from GAA mutations that leads to lysosomal glycogen accumulation and cardiac and skeletal muscle pathology. We have previously generated an infantile-onset Pompe disease patient-derived human-induced pluripotent stem cells (iPSCs ...
Wenjun Huang +5 more
doaj +1 more source
Advanced Healthcare Materials, EarlyView.Interface transmigration reprograms triple‐negative breast cancer cells, triggering a shared switch toward more aggressive and invasive phenotypes. Using a collagen I interface model, this study identifies shared transcriptional changes involving proliferation, chromatin remodeling, and DNA repair pathways.
Cornelia Clemens +3 more
wiley +1 more source
A practical approach to the patient presenting with dropped head [PDF]
, 2016 Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta +9 more
wiley +1 more source
Clinical guidelines for late-onset Pompe disease [PDF]
, 2012 English version available at www.neurologia.comHasta 2006, la enfermedad de Pompe o glucogenosis tipo II era una enfermedad incurable y con tratamiento meramente paliativo.
Barba-Romero, Miguel A. +12 more
core +1 more source
Approximate entropy and auto mutual information analysis of the electroencephalogram in Alzheimer's disease patients [PDF]
, 2008 We analysed the electroencephalogram (EEG) from Alzheimer's disease (AD) patients with two nonlinear methods: approximate entropy (ApEn) and auto mutual information (AMI).
Abasolo, D. +4 more
core +1 more source