Search Results - "Lampe, Christina"
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1
The Xanthomonas effector XopL uncovers the role of microtubules in stromule extension and dynamics in Nicotiana benthamiana
Published in The Plant journal : for cell and molecular biology (01-03-2018)“…Summary Xanthomonas campestris pv. vesicatoria type III‐secreted effectors were screened for candidates influencing plant cell processes relevant to the…”
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2
Social and medical needs of rare metabolic patients: results from a MetabERN survey
Published in Orphanet journal of rare diseases (03-08-2021)“…Many surveys have been performed over the years to assess the medical and social requirements of patients with a rare disease, but no studies have focused…”
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3
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
Published in Orphanet journal of rare diseases (07-11-2011)“…Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme…”
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4
A conserved microtubule-binding region in Xanthomonas XopL is indispensable for induced plant cell death reactions
Published in PLoS pathogens (14-08-2023)“…Pathogenic Xanthomonas bacteria cause disease on more than 400 plant species. These Gram-negative bacteria utilize the type III secretion system to inject type…”
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5
Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)
Published in PloS one (09-09-2016)“…Mucopolysaccharidosis (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring multiple surgical…”
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Surgical management of neurological manifestations of mucopolysaccharidosis disorders
Published in Molecular genetics and metabolism (01-12-2017)“…The mucopolysaccharidosis (MPS) disorders are ultra-rare lysosomal storage disorders associated with progressive accumulation of glycosaminoglycans (GAGs) in…”
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Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries
Published in Orphanet journal of rare diseases (10-05-2022)“…Mucopolysaccharidosis IVA (MPS IVA), or Morquio A syndrome, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme…”
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The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy
Published in Frontiers in pharmacology (13-05-2022)“…Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases (LSDs), characterized by the accumulation of glycosaminoglycans (GAGs). GAG…”
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Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey study
Published in American journal of medical genetics. Part A (01-08-2014)“…Mucopolysaccharidosis VI (MPS VI) is a clinically heterogeneous and progressive disorder with multiorgan manifestations caused by deficient…”
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10
Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management
Published in Journal of inherited metabolic disease (01-03-2013)“…Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the…”
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11
Neuronopathic lysosomal storage disorders: Approaches to treat the central nervous system
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01-03-2015)“…Pharmacological research has always focused on developing new therapeutic strategies capable of modifying a disease's natural history and improving patients'…”
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The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers
Published in Orphanet journal of rare diseases (24-03-2022)“…Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade…”
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13
Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)
Published in Orphanet journal of rare diseases (14-05-2020)“…Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple…”
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14
Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey
Published in Frontiers in medicine (25-02-2021)“…Inherited Metabolic Diseases (IMDs) are rare diseases caused by genetic defects in biochemical pathways. Earlier diagnosis and advances in treatment have…”
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RETRACTED: Wiesinger et al. An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis. Pharmaceutics 2023, 15, 1565
Published in Pharmaceutics (07-11-2023)“…The journal retracts the article, An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis [...]…”
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A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations
Published in Orphanet journal of rare diseases (07-06-2012)“…Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosidase deficiency, acid maltase deficiency, OMIM # 232300) is an autosomal-recessive…”
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RETRACTED: An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis
Published in Pharmaceutics (22-05-2023)“…Mucopolysaccharidosis (MPS) is a group of rare metabolic diseases associated with reduced life expectancy and a substantial unmet medical need…”
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Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)
Published in Journal of inherited metabolic disease (01-03-2013)“…Objective To outline the design, baseline data, and 5-year follow-up data of patients with mucopolysaccharidosis (MPS) VI enrolled in the Clinical Surveillance…”
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Comparison of Rebound Tonometry, Perkins Applanation Tonometry and Ocular Response Analyser in Mucopolysaccharidosis Patients
Published in PloS one (28-08-2015)“…To investigate the feasibility and to compare three devices measuring intraocular pressure (IOP) in mucopolysaccharidosis patients (MPS): iCare rebound…”
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20
Illness perception and clinical treatment experiences in patients with M. Maroteaux-Lamy (mucopolysaccharidosis type VI) and a Turkish migration background in Germany
Published in PloS one (24-06-2013)“…Mucopolysaccharidosis VI (MPS VI) is an inherited lysosomal storage disease caused by a mutation of the gene for arylsulfatase B (ASB). Of the thirty-one…”
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