← All diseases Metabolism and endocrine system

Pompe disease

Automatically tracked from PubMed and ClinicalTrials.gov, newest on top. Nothing ever disappears here: what you keep in your favorites remains findable. · RSS feed of this disease · only the strongest evidence

Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest evidence only (55)Meta-analysis (4)Treatment guideline (3)Systematic review (20)Phase 3 study (18)Randomized trial (10)Clinical trial (201)Review article (174)Early study (phase 1 or 2) (16)Case report (118)Laboratory or animal research (44)Commentary or editorial (34) Only studies currently recruiting participants (29)

Filter

Publications and studies (1195)

• Nutritional co-therapy with 1,3-butanediol and multi-ingredient antioxidants enhances autophagic clearance in Pompe disease. (2022/09/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Desmin Myopathy-A Masquerader of Infantile-Onset Pompe Disease. (2022/09/01) ♡
• [Late onset Pompe disease: an analysis of 19 patients from Mexico]. (2022/09/01) ♡
• 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. Therapies for lysosomal storage diseases: Principles, practice, and prospects for refinements based on evolving science. (2022/09/01) ♡
• Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases. (2022/08/29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Prospective Study on Continuous Glucose Monitoring in Glycogen Storage Disease Type Ia: Toward Glycemic Targets. (2022/08/18) ♡
• 1,6-epi-Cyclophellitol Cyclosulfamidate Is a Bona Fide Lysosomal α-Glucosidase Stabilizer for the Treatment of Pompe Disease. (2022/08/17) ♡
• Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire. (2022/08/01) ♡
• BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients. (2022/08/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Greater Efficacy of Avalglucosidase vs Alglucosidase Alfa in Adult Pompe Disease? The Jury Is Still Out. (2022/08/01) ♡
• Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease. (2022/08/01) ♡
• Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey. (2022/08/01) ♡
• A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I. (2022/08/01) ♡
• A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening. (2022/07/19) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation. (2022/07/18) ♡
• A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation. (2022/07/06) ♡
• The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex. (2022/07/05) ♡
• Body composition and 6 minute walking ability in late-onset pompe disease patients after 9 years of enzyme replacement therapy. (2022/07/01) ♡
• Macroglossia: A potentially severe complication of late-onset Pompe disease. (2022/07/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Virgin and Child with the Infant St. John the Baptist by Sandro Botticelli (1445-1510): does the child have Pompe disease? (2022/07/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study. (2022/07/01) ♡
• Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan. (2022/07/01) ♡
• A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease. (2022/06/27) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Co-occurrence of Glycogen Storage Disease Type 2 and Congenital Myasthenic Syndrome Type 5 in a Pediatric Patient: A Case Report. (2022/06/26) ♡
• Genome-Wide Association Studies Reveal Candidate Genes Related to Stem Diameter in Cucumber (Cucumis sativus L.). (2022/06/19) ♡
• 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. Dynamic Methods for Childhood Hypoglycemia Phenotyping: A Narrative Review. (2022/06/17) ♡
• Label-free multiplex electrochemical immunosensor for early diagnosis of lysosomal storage disorders. (2022/06/04) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies. (2022/06/04) ♡
• Prevalence of lower urinary tract symptoms in children with early-treated infantile-onset Pompe disease: A single-centre cross-sectional study. (2022/06/01) ♡
• [Rare diseases in the differential diagnosis of myalgia]. (2022/06/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Vibration assisted rehabilitation in patients with Pompe disease: A case series. (2022/06/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Duchenne Muscular Dystrophy With Low Acidic α-Glucosidase Activity: Two Case Reports and Literature Review. (2022/06/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Lentiviral gene therapy prevents anti-human acid α-glucosidase antibody formation in murine Pompe disease. (2022/05/04) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report. (2022/04/06) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report. (2022/03/28) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort. (2022/03/01) ♡
• Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up. (2022/02/18) ♡
• Clinical and Genetic Aspects of Juvenile Onset Pompe Disease. (2022/02/01) ♡
• Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants. (2022/01/15) ♡
• Study Protocol of the Exercise Study: Unraveling Limitations for Physical Activity in Children With Chronic Diseases in Order to Target Them With Tailored Interventions-A Randomized Cross Over Trial. (2022/01/13) ♡
• Muscle-directed gene therapy corrects Pompe disease and uncovers species-specific GAA immunogenicity. (2022/01/11) ♡
• 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. Glycogen Storage Disease Type III. (2022/01/06) ♡
• Airway abnormalities and pulmonary complications in long-term treated late-onset Pompe disease: Diagnostic and interventional by flexible bronchoscopy. (2022/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia. (2022/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium. (2022/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Glycogen storage disease in a young cat with heart failure. (2022/01/01) ♡
• Diaphragmatic dysfunction in neuromuscular disease, an MRI study. (2022/01/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. A tale of two diseases: spinal muscular atrophy and Pompe disease. (2022/01/01) ♡
• GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing. (2022/01/01) ♡
• 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. A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting. (2022/01/01) ♡

↑ Back to top

codex.care does not provide medical advice. Always discuss symptoms, medication, and treatment choices with your own healthcare provider.