A5002597500- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Trypanosoma species research and implications
- Child Nutrition and Feeding Issues
- Family and Disability Support Research
- Spinal Dysraphism and Malformations
- Neurogenetic and Muscular Disorders Research
- Autoimmune and Inflammatory Disorders Research
- Biomedical Research and Pathophysiology
- Carbohydrate Chemistry and Synthesis
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Adolescent and Pediatric Healthcare
- Plant Pathogenic Bacteria Studies
- Plant-Microbe Interactions and Immunity
- Cystic Fibrosis Research Advances
- Dialysis and Renal Disease Management
- melanin and skin pigmentation
- Biochemical and Molecular Research
- Cellular transport and secretion
- Cerebrospinal fluid and hydrocephalus
- Cerebral Palsy and Movement Disorders
- Retinal Development and Disorders
- Legume Nitrogen Fixing Symbiosis
- Spinal Cord Injury Research
Universitätsklinikum Gießen und Marburg
2020-2024
Martin Luther University Halle-Wittenberg
2017-2023
Helios Dr. Horst Schmidt Kliniken Wiesbaden
2013-2020
Justus-Liebig-Universität Gießen
2019
Johannes Gutenberg University Mainz
2006-2017
University Medical Center of the Johannes Gutenberg University Mainz
2012-2017
European Brain Research Institute
2015-2016
TCL (China)
2013
German Center for Pediatric and Adolescent Rheumatology
2013
Boston Children's Hospital
2013
Mucopolysaccharidosis VI (MPS VI) is a clinically heterogeneous and progressive disorder with multiorgan manifestations caused by deficient N ‐acetylgalactosamine‐4‐sulfatase activity. A cross‐sectional Survey Study in individuals (n = 121) affected MPS was conducted between 2001 2002 to establish demographics, urinary glycosaminoglycan (GAG) levels, clinical progression of disease. We Resurvey (ClinicalTrials.gov: NCT01387854) obtain 10‐year follow‐up data, including medical histories...
Morquio A syndrome (or mucopolysaccharidosis IVa) is an ultra-rare multi-organ disease, resulting in significantly impaired functional capacity, mobility and quality of life (QoL). This patient-reported outcomes survey evaluated the global burden among adults (≥18 years, N = 27) children (7-17 36), including impact on mobility, QoL, pain fatigue. QoL was assessed using general Health-Related Quality Life (HRQoL) questionnaire (the EuroQol [EQ]-5D-5L). Pain interference with daily activities...
Abstract Background Pompe disease (Glycogen storage type II, GSD acid alpha-glucosidase deficiency, maltase OMIM # 232300) is an autosomal-recessive lysosomal disorder due to a deficiency of (GAA, maltase, EC 3.2.1.20, Swiss-Prot P10253). Clinical manifestations are dominated by progressive weakness skeletal muscle throughout the clinical spectrum. In addition, classic infantile form characterised hypertrophic cardiomyopathy. Methods cross-sectional single-centre study we clinically assessed...
Summary Xanthomonas campestris pv. vesicatoria type III ‐secreted effectors were screened for candidates influencing plant cell processes relevant to the formation and maintenance of stromules in Nicotiana benthamiana lower leaf epidermis. Transient expression XopL, a unique E3 ubiquitin ligase, led nearly complete elimination relocation plastids nucleus. Further characterization XopL revealed that ligase activity is essential two plastid phenotypes. In contrast wild type, mutant lacking...
Mucopolysaccharidosis IVA (MPS IVA, or Morquio A syndrome) and VI VI, Maroteaux-Lamy are autosomal recessive lysosomal storage disorders. Skeletal abnormalities common initial presenting symptoms and, when recognized early, may facilitate timely diagnosis intervention, leading to improved patient outcomes. Patients with slowly progressing disease nonclassic phenotypes can be particularly challenging diagnose. The objective was describe the radiographic features of patients a delayed MPS...
Mucopolysaccharidosis (MPS) II, or Hunter syndrome, is a lysosomal storage disease characterized by multi-systemic involvement and progressive clinical course. Enzyme replacement therapy with idursulfase has been approved in more than 50 countries worldwide; however, safety efficacy data from studies are currently only available for patients 1.4 years of age older. Sibling case infants MPS I, VI who initiated ERT the first weeks months life have reported no new concerns favorable course...
To gain insight into the frequency, age of onset, and management cervical cord compression in mucopolysaccharidosis VI (MPS VI). Cervical spine magnetic resonance imaging (MRI) data and/or decompression surgery collected between 30 June 2005 1 September 2015 were analyzed from subjects enrolled MPS Clinical Surveillance Program (CSP) (ClinicalTrials.gov: NCT00214773), an ongoing multicenter, observational, retrospective prospective registry. Of 213 CSP, 134 (62.9%) had at least one...
Mucopolysaccharidosis (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring surgical interventions. It well known that patients MPS suffer from tachycardia, but cardiac hemodynamic alterations have not been reported to date. We investigated the cardiovascular in developed possible patho-mechanism for deterioration during anesthesia.In this observational study, serial examinations were performed 54 who followed at Children's Hospital of...
Mucopolysaccharidosis (MPS) VI is an autosomal recessive lysosomal storage disorder arising from deficient activity of N-acetylgalactosamine-4-sulfatase (arylsulfatase B) and subsequent intracellular accumulation the glycosaminoglycans (GAGs) dermatan sulfate chondroitin-4-sulfate. Manifestations are multi-systemic include skeletal abnormalities such as dysostosis multiplex short stature. Reference height-for-age growth charts for treatment-naïve MPS patients have been published both slowly...