A5102819042- Connective tissue disorders research
- Skin and Cellular Biology Research
- Glycosylation and Glycoproteins Research
- Skin Diseases and Diabetes
- Lysosomal Storage Disorders Research
- Nuclear Structure and Function
- Ubiquitin and proteasome pathways
- Infant Nutrition and Health
- Metabolism and Genetic Disorders
- Peptidase Inhibition and Analysis
- Mitochondrial Function and Pathology
- Neonatal Respiratory Health Research
- Genomic variations and chromosomal abnormalities
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- RNA and protein synthesis mechanisms
- Biochemical and Molecular Research
- RNA modifications and cancer
- Inflammatory Myopathies and Dermatomyositis
- Neurogenetic and Muscular Disorders Research
- Cancer Diagnosis and Treatment
- Digestive system and related health
- Biomedical Research and Pathophysiology
- Hypertrophic osteoarthropathy and related conditions
- Cellular transport and secretion
Radboud University Nijmegen
2011-2020
Radboud University Medical Center
2011-2020
Tulane University
2014
Medizinische Hochschule Hannover
2013
<h3>Objective:</h3> To identify the underlying genetic defect in a patient with intellectual disability, seizures, ataxia, macrothrombocytopenia, renal and cardiac involvement, abnormal protein glycosylation. <h3>Methods:</h3> Genetic studies involved homozygosity mapping by 250K single nucleotide polymorphism array <i>SLC35A1</i> sequencing. Functional included biochemical assays for N-glycosylation mucin-type O-glycosylation <i>SLC35A1</i>-encoded cytidine 5′-monophosphosialic acid...
Cutis Laxa (CL) is a rare disease in which the skin loses its elasticity and hangs large folds. It an inherited or acquired connective tissue disorder. We report case of 29 year-old woman followed up since 4 years for dermatomyositis treated with glucocorticosteroids methotrexate. She was hospitalized February 2012 fever, arthralgia, pelvic shoulder muscle weakness myalgia, malar rash, thrombocytopenia, leucopenia lymphocytopenia Immunological tests showed Antinuclear Antibodies (ANA) (+) to...