نتائج البحث - "LYSOSOMAL storage diseases"

1

The disease modelling value of a folklore FAIRYtale: SHEDing light over a special group of genetic disorders

المؤلفون: Carvalho, S., Santos, J.I., Moreira, L., Gaspar, P., Gonçalves, M., Encarnação, M., Ribeiro, D., Duarte, A., Prata, M.J., Coutinho, M.F., Alves, Sandra

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Genetic Disorders, Mucopolysaccharidoses, Glycosaminoglycans, Lysosomal Storage Diseases, Genética Humana, Doenças Genéticas

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10400.18/9149Test

View record in RCAAP

2

دورية أكاديمية

Immunoglobulin-G subclass pattern among children with mucopolysaccharidosis attending the genetic clinic of Alexandria University Children's Hospital.

المؤلفون: ElDeriny, Ghada F.¹ ghadaderiny2006@yahoo.com, Marzouk, Iman M.¹, Elbanna, Ola A.²

المصدر: Alexandria Journal of Pediatrics. Jan-Apr2022, Vol. 35 Issue 1, p1-7. 7p.

مصطلحات موضوعية: *MUCOPOLYSACCHARIDOSIS, *LYSOSOMAL storage diseases, *GLYCOSAMINOGLYCANS, *IMMUNOGLOBULIN G, *RESPIRATORY infections

3

دورية أكاديمية

Leukocyte Imbalances in Mucopolysaccharidoses Patients.

المؤلفون: Lopes, Nuno, Maia, Maria L., Pereira, Cátia S., Mondragão-Rodrigues, Inês, Martins, Esmeralda, Ribeiro, Rosa, Gaspar, Ana, Aguiar, Patrício, Garcia, Paula, Cardoso, Maria Teresa, Rodrigues, Esmeralda, Leão-Teles, Elisa, Giugliani, Roberto, Coutinho, Maria F., Alves, Sandra, Macedo, M. Fátima

المصدر: Biomedicines; Jun2023, Vol. 11 Issue 6, p1699, 14p

مصطلحات موضوعية: T helper cells, CYTOTOXIC T cells, LYSOSOMAL storage diseases, LEUCOCYTES, DERMATAN sulfate

النص الكامل

4

دورية أكاديمية

Pozdní diagnóza mukopolysacharidózy I. typu u dívky s kontrakturami rukou.

العنوان البديل: Late diagnosis of mucopolysaccharidosis type I in a girl with hand contractures. (English)

المؤلفون: Hana, Ptáčková, Helena, Poupětová, Hana, Vlášková, Tomáš, Honzík, Pavel, Ješina

المصدر: Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie; 2023, Vol. 78 Issue 3, p155-160, 6p

مصطلحات موضوعية: HEMATOPOIETIC stem cell transplantation, ENZYME replacement therapy, LYSOSOMAL storage diseases, UMBILICAL hernia, STEM cell treatment, GLYCOGEN storage disease type II, CARPAL tunnel syndrome

5

دورية أكاديمية

Characterization of a HIR-Fab-IDS, Novel Iduronate 2-Sulfatase Fusion Protein for the Treatment of Neuropathic Mucopolysaccharidosis Type II (Hunter Syndrome).

المؤلفون: Gusarova, Valentina D., Smolov, Maxim A., Lyagoskin, Ivan V., Degterev, Maksim B., Rechetnik, Elizaveta V., Rodionov, Alexander V., Pantyushenko, Marina S., Shukurov, Rahim R.

المصدر: BioDrugs; May2023, Vol. 37 Issue 3, p375-395, 21p

مصطلحات موضوعية: BLOOD-brain barrier, CHIMERIC proteins, MUCOPOLYSACCHARIDOSIS, GLYCOSAMINOGLYCANS, SURFACE plasmon resonance, INSULIN receptors, ENZYME replacement therapy, LYSOSOMAL storage diseases

6

دورية أكاديمية

Changes in cellular processes occurring in mucopolysaccharidoses as underestimated pathomechanisms of these diseases.

المؤلفون: Gaffke, Lidia¹ (AUTHOR), Pierzynowska, Karolina¹ (AUTHOR), Podlacha, Magdalena¹ (AUTHOR), Brokowska, Joanna¹ (AUTHOR), Węgrzyn, Grzegorz¹ (AUTHOR) grzegorz.wegrzyn@biol.ug.edu.pl

المصدر: Cell Biology International. Mar2021, Vol. 45 Issue 3, p498-506. 9p.

مصطلحات موضوعية: *LYSOSOMES, *LYSOSOMAL storage diseases, *GLYCOSAMINOGLYCANS, *METABOLIC regulation, *GENETIC disorders, *SYMPTOMS

7

دورية أكاديمية

Decreased Levels of Chaperones in Mucopolysaccharidoses and Their Elevation as a Putative Auxiliary Therapeutic Approach.

المؤلفون: Żabińska, Magdalena, Gaffke, Lidia, Bielańska, Patrycja, Podlacha, Magdalena, Rintz, Estera, Cyske, Zuzanna, Węgrzyn, Grzegorz, Pierzynowska, Karolina

المصدر: Pharmaceutics; Feb2023, Vol. 15 Issue 2, p704, 18p

مصطلحات موضوعية: MOLECULAR chaperones, THERAPEUTICS, ENZYME replacement therapy, LYSOSOMAL storage diseases, LYSOSOMES, PROTEIN folding, HEAT shock proteins, GLYCOSAMINOGLYCANS

النص الكامل

8

دورية أكاديمية

Mucopolysaccharidosis Type 1 among Children—Neuroradiological Perspective Based on Single Centre Experience and Literature Review.

المؤلفون: Machnikowska-Sokołowska, Magdalena, Myszczuk, Aleksandra, Wieszała, Emilia, Wieja-Błach, Dominika, Jamroz, Ewa, Paprocka, Justyna

المصدر: Metabolites (2218-1989); Feb2023, Vol. 13 Issue 2, p209, 16p

مصطلحات موضوعية: MUCOPOLYSACCHARIDOSIS I, LITERATURE reviews, GENETIC disorders, DIAGNOSIS, LYSOSOMAL storage diseases, INTERFERON beta 1b

النص الكامل

9

دورية أكاديمية

Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features.

المؤلفون: DAMAR, Çağrı¹ cagridamar@hotmail.com, DERİNKUYU, Betül Emine², Olgaç KILIÇKAYA, Muazzez Asburçe Bike³, ÖZTÜRK, Mehmet⁴, ÖZTUNALI, Çiğdem⁵, ALIMLI, Ayşe Gül⁶, BOYUNAĞA, Öznur Leman⁷, UÇAR, Murat⁷, EZGÜ, Fatih Süheyl⁸, TÜMER, Leyla⁸, BÖRCEK, Alp Özgün⁹, SIĞIRCI, Ahmet¹⁰

المصدر: Turkish Journal of Medical Sciences. 2020, Vol. 50 Issue 4, p1048-1061. 14p.

مصطلحات موضوعية: *GENETIC disorders, *LYSOSOMAL storage diseases, *METABOLIC disorders

النص الكامل

10

دورية أكاديمية

Odiparcil, a potential glycosaminoglycans clearance therapy in mucopolysaccharidosis VI—Evidence from in vitro and in vivo models.

المؤلفون: Entchev, Eugeni¹ (AUTHOR) eugeni.entchev@inventivapharma.com, Jantzen, Ingrid¹ (AUTHOR), Masson, Philippe¹ (AUTHOR), Bocart, Stephanie¹ (AUTHOR), Bournique, Bruno¹ (AUTHOR), Luccarini, Jean-Michel¹ (AUTHOR), Bouchot, Andre² (AUTHOR), Lacombe, Olivier¹ (AUTHOR), Junien, Jean-Louis¹ (AUTHOR), Broqua, Pierre¹ (AUTHOR), Tallandier, Mireille¹ (AUTHOR) eugeni.entchev@inventivapharma.com

المصدر: PLoS ONE. 5/15/2020, Vol. 15 Issue 5, p1-22. 22p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *BONE marrow transplantation, *TREATMENT effectiveness, *BONES, *CONNECTIVE tissues, *GLYCOSAMINOGLYCANS, *PROXIMAL kidney tubules

النص الكامل

تنقيح النتائج