A5058385898- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Carbohydrate Chemistry and Synthesis
- Child Nutrition and Feeding Issues
- Autoimmune and Inflammatory Disorders Research
- Cerebral Palsy and Movement Disorders
- Calcium signaling and nucleotide metabolism
- Trypanosoma species research and implications
- Parkinson's Disease Mechanisms and Treatments
- Neurogenetic and Muscular Disorders Research
- Cellular transport and secretion
- Genomics and Rare Diseases
- Ophthalmology and Eye Disorders
- Cerebrospinal fluid and hydrocephalus
- Cystic Fibrosis Research Advances
- Protein Tyrosine Phosphatases
- Biochemical and Molecular Research
- Respiratory and Cough-Related Research
- Metabolism and Genetic Disorders
- Craniofacial Disorders and Treatments
- Asthma and respiratory diseases
Radboud University Nijmegen
2025
Radboud University Medical Center
2025
Erasmus MC
2014-2021
Erasmus MC - Sophia Children’s Hospital
2014-2018
University Medical Center
2017
University Hospital and Clinics
2017
Erasmus University Rotterdam
2012
To determine the effect of enzyme replacement therapy (ERT) after 5 years and to identify predictors for a favorable response because few data are available on long-term efficacy ERT in Pompe disease.We included 102 adult patients with disease nationwide, prospective cohort study. We assessed muscle strength (manual testing Medical Research Council [MRC] grading, handheld dynamometry [HHD]), function (6-minute walk test, Quick Motor Function Test), daily life activities (Rasch-Built...
As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge specific clinical characteristics and genotypes. We included all patients younger than 18 years, who had been evaluated at the Center in Rotterdam, Netherlands, between 1975 2012, excluding those classic-infantile form. None were treated enzyme replacement therapy time evaluation. collected first symptoms, diagnosis, use a wheelchair and/or respirator, mutation analysis...
Abstract Objectives Pompe disease is a progressive metabolic myopathy for which enzyme replacement therapy (ERT) was approved in 2006. While various publications have examined the effects of ERT classic‐infantile patients and adults, little has been published on children with non‐classic presentations. Study design This prospective study conducted from June 1999 to May 2015. Seventeen countries participated. Outcome measures comprised muscle function (6‐minute walk test, quick motor‐function...
Abstract Background Mucolipidosis type III α/β or γ (MLIII) are rare autosomal recessive diseases, in which reduced activity of the enzyme UDP‐ N ‐acetyl glucosamine‐1‐phosphotransferase (GlcNAc‐PTase) leads to intra‐lysosomal accumulation different substrates. Publications on natural history MLIII, especially milder forms, scarce. This study provides a detailed description disease characteristics and its course adult patients with MLIII. Methods In this retrospective chart study, clinical,...
Pompe disease is a rare metabolic myopathy. In adult patients, progressive weakness of limb-girdle and respiratory muscles often leads to wheelchair respirator dependency. Clinical studies have shown enzyme replacement therapy (ERT) positively affect motor outcomes. Here we investigate whether ERT reduces patients' risk needing or respirator.Data were collected as part prospective international survey, the IPA/Erasmus MC which was conducted annually between 2002 2016. We excluded patients...
The majority of children and adults with Pompe disease in the population European descent carry leaky splicing GAA variant c.-32-13T>G (IVS1) combination a fully deleterious on second allele. phenotypic spectrum this patient group is exceptionally broad, symptom onset ranging from early infancy to late adulthood. In addition, response enzyme replacement therapy (ERT) varies between patients. insertion/deletion (I/D) polymorphism angiotensin I-converting (ACE) has been suggested be modifier...
Abstract Background The mucopolysaccharidoses are multisystem lysosomal storage diseases characterized by extensive skeletal deformities, including skull abnormalities. objective of this study was to determine the incidence craniosynostosis in different mucopolysaccharidosis (MPS) types and its clinical consequences. Methods In a prospective cohort spanning 10 years, imaging evaluations were performed 47 MPS patients (type I, II, VI, VII). A total 215 radiographs analyzed. presence type...
Abstract Background The loss of the ability to walk is among most prominent signs Pompe disease. associations with muscle strength have not been described. Objective objective this study was estimate walking performance in 4 specific lower extremity groups along other factors adult patients Design This a single-center, cross-sectional study. Methods Muscle (hand-held dynamometry hip flexion and abduction knee extension flexion) (unable walk, able aids, without aids but waddling gait, or...
S35Pompe disease is a rare, progressive, lysosomal storage disorder for which enzyme replacement therapy (ERT) became available in 2006.Four years earlier, the International Pompe Association (IPA)/ Erasmus MC survey, an international prospective was established to collect information on natural course of and its burden patients.The survey collaboration between University Medical Center IPA, comprises annual questionnaire that specifi cally designed assess symptoms problems disease.Here we...