ReviewCurrent neurology and neuroscience reports2012
Enzyme replacement therapy for Pompe disease.
Review in Current neurology and neuroscience reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 45 citations in OpenAlex.
- Clinical, pathological and genetic features as well as follow-up of 68 patients with late-onset Pompe disease: a single-center retrospective study.Frontiers in nutrition · 2026Article
- Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes.Molecular genetics and metabolism reports · 2023Article
- Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard.Journal of inherited metabolic disease · 2022Review
- TFEB Biology and Agonists at a Glance.Cells · 2021Review
- Pregnancy Outcomes in Late Onset Pompe Disease.Life (Basel, Switzerland) · 2020Article
- The Respiratory Phenotype of Pompe Disease Mouse Models.International journal of molecular sciences · 2020Review
- Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.BMC medical genetics · 2019Article
- Stability of Therapeutic Enzymes: Challenges and Recent Advances.Advances in experimental medicine and biology · 2019Review
- Emptying the stores: lysosomal diseases and therapeutic strategies.Nature reviews. Drug discovery · 2018Review
- Incidence of infantile Pompe disease in the Maroon population of French Guiana.BMJ paediatrics open · 2018Article
- Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease.Journal of molecular medicine (Berlin, Germany) · 2017Article
- The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.European journal of human genetics : EJHG · 2015Article
- Pompe disease: literature review and case series.Neurologic clinics · 2014Review
- Role of endosomes and lysosomes in human disease.Cold Spring Harbor perspectives in biology · 2014Review
- Pompe disease: from pathophysiology to therapy and back again.Frontiers in aging neuroscience · 2014Review
- Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease.EMBO molecular medicine · 2013Article
- WITHDRAWN: Clearance of lysosomal glycogen accumulation by Transcription factor EB (TFEB) in muscle cells from lysosomal alpha-glucosidase deficient mice.Biochemical and biophysical research communications · 2013Article
- The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction.The Journal of cell biology · 2012Review
- Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.American journal of medical genetics. Part C, Seminars in medical genetics · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Late-onset glycogenosis type II (glycogen storage disease type II [GSDII]) is a rare autosomal disorder caused by deficiency of acid maltase, a lysosomal enzyme that hydrolyzes glycogen to glucose. Recently, both infantile and adult GSDII patients have been treated with enzyme replacement therapy (ERT), and a number of studies including large cohorts of GSDII patients have recently demonstrated that ERT is effective in modifying the natural course of the disease. The opportunity of this new treatment gave new hope to patients, but also an important impulse to the research on every feature of the disease, leading to a deeper knowledge on the response to treatment, on clinical manifestations, and on pathophysiologic aspects such as the role of autophagy and immune status.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.