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Pompe disease
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Publications and studies (1195)
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient. (2021/09/27) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease. (2021/09/22) ♡
- New Treatment Approved for Adults and Children With Pompe Disease. (2021/09/21) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus. (2021/09/21) ♡
- Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications. (2021/09/17) ♡
- Protein structural features predict responsiveness to pharmacological chaperone treatment for three lysosomal storage disorders. (2021/09/16) ♡
- Commercial DNA tests and police investigations: a broad bioethical perspective. (2021/09/11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net. (2021/09/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. [Treatment of GERD in asthma]. (2021/09/01) ♡
- A new D-galactose treatment monitoring index for PGM1-CDG. (2021/09/01) ♡
- Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease. (2021/09/01) ♡
- Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India. (2021/09/01) ♡
- Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots. (2021/08/28) ♡
- The future of newborn screening for lysosomal disorders. (2021/08/24) ♡
- Chemoenzymatic glycan-selective remodeling of a therapeutic lysosomal enzyme with high-affinity M6P-glycan ligands. Enzyme substrate specificity is the name of the game. (2021/08/19) ♡
- Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods. (2021/08/16) ♡
- Targeted long-read sequencing identifies missing disease-causing variation. (2021/08/05) ♡
- Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy. (2021/08/05) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Studies in Neuroscience: Neuropathology and diaphragm dysfunction in ventilatory failure from late-onset Pompe disease. (2021/08/01) ♡
- The usage of enzyme replacement treatments, economic burden, and quality of life of patients with four lysosomal storage diseases in Shanghai, China. (2021/08/01) ♡
- New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside. (2021/07/30) ♡
- Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function. (2021/07/30) ♡
- Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population. (2021/07/16) ♡
- Production of Human Acid-Alpha Glucosidase With a Paucimannose Structure by Glycoengineered Arabidopsis Cell Culture. (2021/07/14) ♡
- Corrigendum: Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests. (2021/07/13) ♡
- Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease. (2021/07/08) ♡
- Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory. (2021/07/08) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report. (2021/07/02) ♡
- Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy. (2021/07/01) ♡
- Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan. (2021/07/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease. (2021/06/16) ♡
- Quantitative Muscle MRI in Patients with Neuromuscular Diseases-Association of Muscle Proton Density Fat Fraction with Semi-Quantitative Grading of Fatty Infiltration and Muscle Strength at the Thigh Region. (2021/06/08) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Utility of Cardiac Magnetic Resonance Imaging in the Diagnosis, Prognosis, and Treatment of Infiltrative Cardiomyopathies. (2021/06/03) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia. (2021/06/03) ♡
- [Chinese experts consensus on diagnosis and treatment of glycogen storage disease type Ⅱ in children]. (2021/06/02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study). (2021/06/01) ♡
- Construction of a 3D brain extracellular matrix model to study the interaction between microglia and T cells in co-culture. (2021/06/01) ♡
- Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD). (2021/06/01) ♡
- Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases. (2021/06/01) ♡
- Regional variation of thigh muscle fat infiltration in patients with neuromuscular diseases compared to healthy controls. (2021/06/01) ♡
- Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease. (2021/05/31) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants. (2021/05/21) ♡
- 5 minutes to learn - An underrecognized adverse effect of proton pump inhibitors. (2021/05/12) ♡
- Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease-an MRI study. (2021/05/06) ♡
- Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease. (2021/05/05) ♡
- Exercise, nutrition and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium. (2021/05/03) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. A Phase 2, Double-Blind, Randomized, Dose-Ranging Trial Of Reldesemtiv In Patients With ALS. (2021/05/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Skeletal muscle magnetic resonance imaging in Pompe disease. (2021/05/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Nanotechnology-based approaches for treating lysosomal storage disorders, a focus on Fabry disease. (2021/05/01) ♡
- Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding. (2021/05/01) ♡
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