Academic literature on the topic 'Mucopolysacharides'

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Journal articles on the topic "Mucopolysacharides"

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Ilic, Ivan, Pavle Randjelovic, Ratko Ilic, et al. "An approach to malignant mammary phyllodes tumors detection." Vojnosanitetski pregled 66, no. 4 (2009): 277–82. http://dx.doi.org/10.2298/vsp0904277i.

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Background/Aim. Mammary phyllodes tumors (MPT) are uncommon fibroepithelial (biphasic) neoplasms whose clinical behavior is difficult to predict on the basis of histological criteria only. They are divided into benign, borderline malignant and malignant groups. Sometimes it appears difficult to distinguish these tumors from other types of soft tissue sarcomas. Because of the relatively scant data on the role of biological markers in MPT histogenesis, we have decided to undertake the following study, trying to shed more light on the issue by investigating the following elements that make up MPT
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Teunissen, Q. G. A., A. T. van der Ploeg, F. A. Wijburg, F. J. van Spronsen, G. Visser, and M. M. M. G. Brands. "Mucopolysacharidose type I: de ziekten van Hurler en van Scheie." Tijdschrift voor Kindergeneeskunde 78, no. 2 (2010): 57–62. http://dx.doi.org/10.1007/s12456-010-0017-0.

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Nakka, Sushma, Yelena Patsiornik, Svetlana Reznik, Gloria Fernandez, Archana Maini, and Mila Yakobi. "A Case of Gelatinous Transformation of the Bone Marrow and Peripheral Blood Count in a Patient with Anorexia Nervosa." Blood 108, no. 11 (2006): 3761. http://dx.doi.org/10.1182/blood.v108.11.3761.3761.

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Abstract A 26-year old woman with diagnosis Anorexia Nervosa, restricting type presented to the ED with refusal to eat, weakness and amenorrhea. She weighted 29.2 kg, which at a height of 5 ft made her BMI 12.6 kg/m2. Laboratory data showed a hemoglobin of 9.3/dl, hematocrit of 28.4%, leukocyte count of 8.9 K/ul, platelets count 131 K/ul. Ferritin was 168.4 ng/ml, serum iron 80 mcg/dL, transferin saturation 35.7%. Initial chemistries revealed albumin of 3.5 g/dl, prealbumin 12.4 mg/dl. Following hydration, the hemoglobin level fell to 6.9 g/dl, hematocrit to 22.0%. Remarkably, patient also exp
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Hagemans, M. L. C., M. M. M. G. Brands, C. I. van Capelle, et al. "Mucopolysacharidose type II en type VI: de ziekten van Hunter en van Maroteaux-Lamy." Tijdschrift voor Kindergeneeskunde 78, no. 2 (2010): 62–69. http://dx.doi.org/10.1007/s12456-010-0018-z.

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Lougani, Saadia, Abdelkrim Saadi, Hassina Hadjou, et al. "Mucopolysacharidose type I : aspects cliniques et évolutifs sous enzymothérapie de substitution chez trois patientes algériennes." Revue Neurologique 174 (April 2018): S117. http://dx.doi.org/10.1016/j.neurol.2018.01.264.

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Nestrasil, Igor, Rene Labounek, Carol Nguyen, et al. "Intraspinal space restriction at the occipito-cervical junction alters cervical spinal cord diffusion MRI metrics in mucopolysacharidoses patients." Molecular Genetics and Metabolism 129, no. 2 (2020): S115. http://dx.doi.org/10.1016/j.ymgme.2019.11.297.

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Konova, Olga, Elena Dmitrienko, Leyla Namazova-Baranova, Ludmila Kuzenkova, Anna Gevorkyan, and Nato Vashakmadze. "Experience in the use of innovative non-Medication technologies in treatment of children with mucopolysacharidoses in the Federal Clinical Center." Molecular Genetics and Metabolism 108, no. 2 (2013): S55. http://dx.doi.org/10.1016/j.ymgme.2012.11.134.

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Trabszo, Christof, Bastian Ramms, Pradeep Chopra, et al. "Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate." Biochemical Journal 477, no. 17 (2020): 3433–51. http://dx.doi.org/10.1042/bcj20200546.

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Mucopolysaccharidoses comprise a group of rare metabolic diseases, in which the lysosomal degradation of glycosaminoglycans (GAGs) is impaired due to genetically inherited defects of lysosomal enzymes involved in GAG catabolism. The resulting intralysosomal accumulation of GAG-derived metabolites consequently manifests in neurological symptoms and also peripheral abnormalities in various tissues like liver, kidney, spleen and bone. As each GAG consists of differently sulfated disaccharide units, it needs a specific, but also partly overlapping set of lysosomal enzymes to accomplish their compl
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Szabolcs, P., P. L. Martin, S. Parikh, et al. "180: Chronic graft-versus host disease (GVHD) in children with mucopolysacharidoses (MPS) two years after unrelated donor umbilical cord blood transplantation (UCBT)." Biology of Blood and Marrow Transplantation 13, no. 2 (2007): 67. http://dx.doi.org/10.1016/j.bbmt.2006.12.184.

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Dissertations / Theses on the topic "Mucopolysacharides"

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Abily-Donval, Lénaïg. "Exploration des mécanismes physiopathologiques des mucopolysacharidoses et de la maladie de Fabry par approches "omiques" et modulation de l'autophagie. Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis." Thesis, Normandie, 2019. http://www.theses.fr/2019NORMR108.

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Les pathologies lysosomales sont des maladies liées au déficit quantitatif ou qualitatif d’une hydrolase ou d’un transporteur à l’origine d’une atteinte multiviscérale potentiellement sévère. Certaines de ces pathologies sont accessibles à des traitements mais ces thérapeutiques sont uniquement symptomatiques et ne guérissent pas les patients. Même si le phénomène de surcharge peut expliquer entre autres la symptomatologie observée, la physiopathologie de ces maladies est complexe et non précisément connue. Une meilleure connaissance de ces pathologies pourrait permettre d’améliorer leur prise
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