| scholarly article | Q13442814 |
| P2093 | author name string | H M Mirghani | |
| M A Hamdan | |||
| M H Almalik | |||
| P2860 | cites work | Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease | Q28277595 |
| Antenatal diagnosis of heart disease | Q33839214 | ||
| Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating | Q34011226 | ||
| Pompe disease diagnosis and management guideline. | Q34567528 | ||
| The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature | Q35191008 | ||
| Evolution and long term outcome in cases with fetal diagnosis of congenital heart disease: Italian multicentre study. Fetal Cardiology Study Group of the Italian Society of Pediatric Cardiology | Q35566677 | ||
| Mid-trimester genetic amniocentesis in twin pregnancy and the risk of fetal loss. | Q36542140 | ||
| Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome | Q40325048 | ||
| A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease | Q44312356 | ||
| Fetal cardiomyopathies: pathogenic mechanisms, hemodynamic findings, and clinical outcome | Q46350966 | ||
| Electrocardiographic response to enzyme replacement therapy for Pompe disease. | Q51807688 | ||
| Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. | Q51876865 | ||
| Electron Microscopy of Chorionic Villus Samples for Prenatal Diagnosis of Lysosomal Storage Disorders | Q57522858 | ||
| Rapid Prenatal Diagnosis of Glycogen-Storage Disease Type II by Electron Microscopy of Uncultured Amniotic-Fluid Cells | Q70334263 | ||
| Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis? | Q71527630 | ||
| Hypertrophic cardiomyopathy in a newborn infant | Q77765269 | ||
| Prenatal diagnosis of Pompe disease by electron microscopy | Q80094302 | ||
| Utility of cardiac monitoring in fetuses at risk for congenital heart block: the PR Interval and Dexamethasone Evaluation (PRIDE) prospective study | Q80492903 | ||
| Revisiting the fetal loss rate after second-trimester genetic amniocentesis: a single center's 16-year experience | Q80797568 | ||
| P921 | main subject | enzyme replacement therapy | Q916766 |
| P304 | page(s) | S431-6 | |
| P577 | publication date | 2008-12-12 | |
| P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
| P1476 | title | Early administration of enzyme replacement therapy for Pompe disease: short-term follow-up results. | |
| P478 | volume | 31 Suppl 2 |
| Q40413861 | Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis |
| Q84989744 | Antenatal diagnosis of pompe disease by fetal echocardiography: impact on outcome after early initiation of enzyme replacement therapy |
| Q43160797 | Changes in nutritional status and body composition during enzyme replacement therapy in adult-onset type II glycogenosis |
| Q43948150 | Enzyme replacement in neuronal storage disorders in the pediatric population |
| Q37976643 | Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations. |
| Q61063601 | Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report |
| Q37741152 | Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). |
| Q35752654 | Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience |
| Q30499512 | Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I. |
| Q38615407 | Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy |
| Q39616879 | Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. |
| Q36590894 | The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE |
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