| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1051764788 |
| P356 | DOI | 10.1186/1750-1172-7-88 |
| P8608 | Fatcat ID | release_6xiop6wx3vbsve75jdauvavryu |
| P3181 | OpenCitations bibliographic resource ID | 313158 |
| P932 | PMC publication ID | 3551719 |
| P698 | PubMed publication ID | 23147228 |
| P5875 | ResearchGate publication ID | 233404633 |
| P50 | author | Marianne de Visser | Q30111704 |
| Jan J Verschuuren | Q56441347 | ||
| Nadine A van der Beek | Q59342385 | ||
| Pieter A van Doorn | Q66672518 | ||
| Ans van der Ploeg | Q88008512 | ||
| Arnold J J Reuser | Q92163572 | ||
| Nicolette C Notermans | Q95290548 | ||
| John H. J. Wokke | Q110189996 | ||
| Baziel van Engelen | Q110544835 | ||
| Anneke J van der Kooi | Q114292158 | ||
| Marian A Kroos | Q130279221 | ||
| Marloes L C Hagemans | Q130279254 | ||
| Juna M de Vries | Q130293089 | ||
| P2093 | author name string | Jan B M Kuks | |
| Karin G Faber | |||
| Wim C J Hop | |||
| P2860 | cites work | Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II | Q24300206 |
| Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease | Q28277595 | ||
| Standardisation of spirometry | Q29547365 | ||
| Lung volumes and forced ventilatory flows. Report Working Party Standardization of Lung Function Tests, European Community for Steel and Coal. Official Statement of the European Respiratory Society | Q29616361 | ||
| Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease | Q30489156 | ||
| Hand-held myometry: reference values | Q33589439 | ||
| Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial | Q33941289 | ||
| A randomized study of alglucosidase alfa in late-onset Pompe's disease | Q34110220 | ||
| The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients | Q35754407 | ||
| The natural course of non-classic Pompe's disease; a review of 225 published cases | Q36245480 | ||
| Pompe's disease | Q37302098 | ||
| The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings | Q37875464 | ||
| Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up | Q39218884 | ||
| Toward deconstructing the phenotype of late-onset Pompe disease. | Q39663459 | ||
| Surgical treatment of myogenic blepharoptosis | Q40381233 | ||
| Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. | Q42629452 | ||
| Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study | Q42674306 | ||
| Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease. | Q44376591 | ||
| Cardiac involvement in adults with Pompe disease. | Q46657526 | ||
| Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation | Q47217697 | ||
| The spectrum and diagnosis of acid maltase deficiency. | Q54261710 | ||
| Making diagnosis of Pompe disease at a presymptomatic stage: to treat or not to treat? | Q54519754 | ||
| Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. | Q55034196 | ||
| Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients | Q57390131 | ||
| Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited | Q57390145 | ||
| Pompe disease: Design, methodology, and early findings from the Pompe Registry | Q57639968 | ||
| Muscle MRI in adult-onset acid maltase deficiency | Q57992134 | ||
| Facioscapulohumeral muscular dystrophy | Q60297062 | ||
| Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II | Q64042342 | ||
| Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities | Q64974345 | ||
| Adult-onset acid maltase deficiency with prominent bulbar involvement and ptosis | Q70537234 | ||
| Muscle computed tomography in adult-onset acid maltase deficiency | Q74257438 | ||
| A diagnostic protocol for adult-onset glycogen storage disease type II | Q74608108 | ||
| Ptosis as a feature of late-onset glycogenosis type II | Q79453157 | ||
| Clinical features of late-onset Pompe disease: a prospective cohort study | Q82070031 | ||
| Ptosis in Pompe Disease: Common Genetic Background in Infantile and Adult Series | Q82602540 | ||
| Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease | Q84059430 | ||
| Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease | Q84564899 | ||
| Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns | Q84625804 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 88 | |
| P577 | publication date | 2012-01-01 | |
| P1433 | published in | Orphanet Journal of Rare Diseases | Q15756117 |
| P1476 | title | Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study | |
| P478 | volume | 7 |
| Q36061849 | A conceptual disease model for adult Pompe disease |
| Q64899504 | Association of Muscle Strength and Walking Performance in Adult Patients With Pompe Disease. |
| Q39175420 | Bent spine syndrome as the initial symptom of late-onset Pompe disease. |
| Q51717385 | Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis. |
| Q36911229 | Childhood Pompe disease: clinical spectrum and genotype in 31 patients |
| Q41448556 | Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment |
| Q42787777 | Clinical features of Pompe disease |
| Q48061844 | Comparison of EQ-5D and SF-6D utilities in Pompe disease. |
| Q35809528 | Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group |
| Q31055021 | Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial |
| Q91933156 | Dynamic respiratory muscle function in late-onset Pompe disease |
| Q47852062 | Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease. |
| Q51718537 | Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study. |
| Q55047221 | Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients. |
| Q39287288 | European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. |
| Q37400826 | Familial adult-onset Pompe disease associated with unusual clinical and histological features |
| Q51656691 | Fibromyalgia-like symptoms associated with irritable bowel syndrome: A challenging diagnosis of late-onset Pompe disease. |
| Q58115849 | Follow-up analysis of voice quality in patients with late-onset Pompe disease |
| Q41387647 | From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides |
| Q33635336 | GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells |
| Q37064192 | Hypothyroidism in late-onset Pompe disease |
| Q49941117 | Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease |
| Q92234268 | Identification of serum microRNAs as potential biomarkers in Pompe disease |
| Q33579864 | Increased aortic stiffness and blood pressure in non-classic Pompe disease |
| Q36223120 | Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease |
| Q90753095 | Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease |
| Q52647391 | Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy. |
| Q35595602 | Lung MRI and impairment of diaphragmatic function in Pompe disease |
| Q92158966 | Mobility assessment using wearable technology in patients with late-onset Pompe disease |
| Q31052050 | Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy |
| Q92487786 | Nutrition and exercise in Pompe disease |
| Q30558083 | Phenotypical variation within 22 families with Pompe disease |
| Q38800985 | Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel |
| Q47404438 | Pompe disease in Austria: clinical, genetic and epidemiological aspects |
| Q48179948 | Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy. |
| Q35029971 | Pompe disease: literature review and case series |
| Q99548928 | Pregnancy Outcomes in Late Onset Pompe Disease |
| Q46933420 | Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study |
| Q27334864 | Quantification of Diaphragm Mechanics in Pompe Disease Using Dynamic 3D MRI |
| Q91690896 | Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature |
| Q47927846 | Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil. |
| Q92487776 | Restoring the regenerative balance in neuromuscular disorders: satellite cell activation as therapeutic target in Pompe disease |
| Q35863802 | Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program |
| Q58591574 | Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease |
| Q38217766 | Sphingolipid lysosomal storage disorders |
| Q38884347 | Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. |
| Q51236198 | Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease. |
| Q38238918 | Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease |
| Q60305864 | The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease |
| Q27021472 | The clinical relevance of outcomes used in late-onset Pompe disease: can we do better? |
| Q38211269 | Treatment of lysosomal storage disorders: successes and challenges |
| Q34560232 | Urge incontinence and gastrointestinal symptoms in adult patients with pompe disease: a cross-sectional survey |
| Q92487757 | Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease |
Search more.