Log in

Relevant bibliographies by topics / Mucopolysaccharidosis Metabolism Disorders

Contents

Journal articles
Dissertations / Theses
Books
Book chapters

Academic literature on the topic 'Mucopolysaccharidosis Metabolism Disorders'

Author: Grafiati

Published: 4 June 2021

Last updated: 28 January 2023

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'Mucopolysaccharidosis Metabolism Disorders.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Journal articles on the topic "Mucopolysaccharidosis Metabolism Disorders"

1

Vasilev, Filipp, Aitalina Sukhomyasova, and Takanobu Otomo. "Mucopolysaccharidosis-Plus Syndrome." International Journal of Molecular Sciences 21, no. 2 (January 9, 2020): 421. http://dx.doi.org/10.3390/ijms21020421.

Full text

Abstract:

Previously, we reported a novel disease of impaired glycosaminoglycans (GAGs) metabolism without deficiency of known lysosomal enzymes—mucopolysaccharidosis-plus syndrome (MPSPS). MPSPS, whose pathophysiology is not elucidated, is an autosomal recessive multisystem disorder caused by a specific mutation p.R498W in the VPS33A gene. VPS33A functions in endocytic and autophagic pathways, but p.R498W mutation did not affect both of these pathways in the patient’s skin fibroblast. Nineteen patients with MPSPS have been identified: seventeen patients were found among the Yakut population (Russia) an

APA, Harvard, Vancouver, ISO, and other styles

2

Scarpa, Maurizio, Charles Marques Lourenço, and Hernán Amartino. "Epilepsy in mucopolysaccharidosis disorders." Molecular Genetics and Metabolism 122 (December 2017): 55–61. http://dx.doi.org/10.1016/j.ymgme.2017.10.006.

Full text

APA, Harvard, Vancouver, ISO, and other styles

3

Kaczor-Kamińska, Marta, Kamil Kamiński, and Maria Wróbel. "Heparan Sulfate, Mucopolysaccharidosis IIIB and Sulfur Metabolism Disorders." Antioxidants 11, no. 4 (March 30, 2022): 678. http://dx.doi.org/10.3390/antiox11040678.

Full text

Abstract:

Mucopolysaccharidosis, type IIIB (MPS IIIB) is a rare disease caused by mutations in the N-alpha-acetylglucosaminidase (NAGLU) gene resulting in decreased or absent enzyme activity. On the cellular level, the disorder is characterized by the massive lysosomal storage of heparan sulfate (HS)—one species of glycosaminoglycans. HS is a sulfur-rich macromolecule, and its accumulation should affect the turnover of total sulfur in cells; according to the studies presented here, it, indeed, does. The lysosomal degradation of HS in cells produces monosaccharides and inorganic sulfate (SO42−). Sulfate

APA, Harvard, Vancouver, ISO, and other styles

4

Baxi, Kalgi, Ashish Jagati, and Pooja Agarwal. "Mucopolysachharidosis-II: A Rare Case Report." Nepal Journal of Dermatology, Venereology & Leprology 18, no. 1 (October 8, 2020): 80–82. http://dx.doi.org/10.3126/njdvl.v18i1.25996.

Full text

Abstract:

Mucopolysaccharidosis belongs to a group of metabolic disorders caused by absence or defective activity of lysosomal enzymes. Mucopolysaccharides are major components of intercellular connective tissue and defect in their metabolism leads to an accumulation of incompletely degraded mucopolysaccharides in the lysosomes which affect various body systems through enzymatic activity. We present a case of mucopolysaccharidosis type II with hallmark cutaneous features, mild mental retardation associated with radiological changes.

APA, Harvard, Vancouver, ISO, and other styles

5

Alden, Tord D., Hernán Amartino, Amauri Dalla Corte, Christina Lampe, Paul R. Harmatz, and Leonardo Vedolin. "Surgical management of neurological manifestations of mucopolysaccharidosis disorders." Molecular Genetics and Metabolism 122 (December 2017): 41–48. http://dx.doi.org/10.1016/j.ymgme.2017.09.011.

Full text

APA, Harvard, Vancouver, ISO, and other styles

6

Zapolnik, Paweł, and Antoni Pyrkosz. "Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I—A Mini-Review." International Journal of Molecular Sciences 23, no. 9 (April 26, 2022): 4785. http://dx.doi.org/10.3390/ijms23094785.

Full text

Abstract:

Mucopolysaccharidosis type I (MPS I) is a rare monogenic disease in which glycosaminoglycans’ abnormal metabolism leads to the storage of heparan sulfate and dermatan sulfate in various tissues. It causes its damage and impairment. Patients with the severe form of MPS I usually do not live up to the age of ten. Currently, the therapy is based on multidisciplinary care and enzyme replacement therapy or hematopoietic stem cell transplantation. Applying gene therapy might benefit the MPS I patients because it overcomes the typical limitations of standard treatments. Nanoparticles, including nanoe

APA, Harvard, Vancouver, ISO, and other styles

7

Zapolnik, Paweł, and Antoni Pyrkosz. "Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I—A Mini-Review." International Journal of Molecular Sciences 23, no. 9 (April 26, 2022): 4785. http://dx.doi.org/10.3390/ijms23094785.

Full text

Abstract:

Mucopolysaccharidosis type I (MPS I) is a rare monogenic disease in which glycosaminoglycans’ abnormal metabolism leads to the storage of heparan sulfate and dermatan sulfate in various tissues. It causes its damage and impairment. Patients with the severe form of MPS I usually do not live up to the age of ten. Currently, the therapy is based on multidisciplinary care and enzyme replacement therapy or hematopoietic stem cell transplantation. Applying gene therapy might benefit the MPS I patients because it overcomes the typical limitations of standard treatments. Nanoparticles, including nanoe

APA, Harvard, Vancouver, ISO, and other styles

8

Zahoor, Muhammad Yasir, Huma Arshad Cheema, Sadaqat Ijaz, Muhammad Nadeem Anjum, Khushnooda Ramzan, and Munir Ahmad Bhinder. "Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1." Journal of Pediatric Endocrinology and Metabolism 32, no. 11 (November 26, 2019): 1221–27. http://dx.doi.org/10.1515/jpem-2019-0188.

Full text

Abstract:

Abstract Background Mucopolysaccharidosis type 1 (MPS1) is a rare debilitating multisystem lysosomal disorder resulting due to the deficiency of α-L-iduronidase enzyme (IDUA), caused by recessive mutations in the IDUA gene. Lack or improper amount of the IDUA enzyme results in the improper metabolism of mucopolysaccharides or glycosaminoglycans (GAGs). These large sugar molecules accumulate in lysosomes within cells leading to different systemic complications. The estimated global incidence of MPS1 is 1:100,000 live births for the Hurler and 1:800,000 for the Scheie phenotypes. Methods Thirtee

APA, Harvard, Vancouver, ISO, and other styles

9

De Filippis, Concetta, Barbara Napoli, Laura Rigon, Giulia Guarato, Reinhard Bauer, Rosella Tomanin, and Genny Orso. "Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes." Cells 11, no. 1 (December 31, 2021): 129. http://dx.doi.org/10.3390/cells11010129.

Full text

Abstract:

Deficit of the IDUA (α-L-iduronidase) enzyme causes the lysosomal storage disorder mucopolysaccharidosis type I (MPS I), a rare pediatric neurometabolic disease, due to pathological variants in the IDUA gene and is characterized by the accumulation of the undegraded mucopolysaccharides heparan sulfate and dermatan sulfate into lysosomes, with secondary cellular consequences that are still mostly unclarified. Here, we report a new fruit fly RNAi-mediated knockdown model of a IDUA homolog (D-idua) displaying a phenotype mimicking some typical molecular features of Lysosomal Storage Disorders (LS

APA, Harvard, Vancouver, ISO, and other styles

10

Marsden, Deborah, and Harvey Levy. "Newborn Screening of Lysosomal Storage Disorders." Clinical Chemistry 56, no. 7 (July 1, 2010): 1071–79. http://dx.doi.org/10.1373/clinchem.2009.141622.

Full text

Abstract:

Abstract Background: Newborn screening is a state-based public health program established as a means for the early detection and treatment of certain medical conditions to minimize developmental disability and mortality. The program was initiated more than 40 years ago to detect and prevent phenylketonuria. Recent technological advances have expanded the scope of newborn screening to include more than 30 inborn errors of metabolism. Consideration is now being given to inclusion of screening for lysosomal storage disorders (LSDs). Content: Some lysosomal storage disorders (LSDs) express early i

APA, Harvard, Vancouver, ISO, and other styles

More sources

Dissertations / Theses on the topic "Mucopolysaccharidosis Metabolism Disorders"

1

Litjens, Tom. "The molecular genetics of mucopolysaccharidosis type VI /." Title page, contents and abstract only, 1994. http://web4.library.adelaide.edu.au/theses/09PH/09phl776.pdf.

Full text

APA, Harvard, Vancouver, ISO, and other styles

2

Zarrinkalam, Krystyna. "Characterisation of osteoblast function in a feline model of mucopolysaccharidosis type VI." Title page, contents and introduction only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phz38.pdf.

Full text

Abstract:

Addenda slip inserted in back. Includes bibliographical references (leaves 178-231). To further the understanding of the molecular mechanisms that contribute to the skeletal pathology of mucopolysaccharidosis type VI and to investigate the production of organic matrix by mucopolysaccharidosis VI osteoblasts

APA, Harvard, Vancouver, ISO, and other styles

3

Zarrinkalam, Krystyna Helena. "Characterisation of osteoblast function in a feline model of mucopolysaccharidosis type VI / by Krystyna Zarrinkalam." Thesis, 2001. http://hdl.handle.net/2440/21750.

Full text

Abstract:

Addenda slip inserted in back.<br>Includes bibliographical references (leaves 178-231).<br>xiv, 234, [19] leaves, [56] leaves of plates : ill. (chiefly col.) ; 30 cm.<br>To further the understanding of the molecular mechanisms that contribute to the skeletal pathology of mucopolysaccharidosis type VI and to investigate the production of organic matrix by mucopolysaccharidosis VI osteoblasts<br>Thesis (Ph.D.)--University of Adelaide, Dept. of Paediatrics, 2001

APA, Harvard, Vancouver, ISO, and other styles

4

Feldhammer, Matthew. "N-acétyltransférase lysosomale : organisation, fonctionnement et défauts moléculaires chez les patients atteints du syndrome de Sanfilippo type C." Thèse, 2009. http://hdl.handle.net/1866/3729.

Full text

Abstract:

L’acétylation des résidus de glucosamine terminaux par la N-acétyltransférase lysosomale (HGSNAT) est une étape essentielle de la dégradation catabolique de l’héparan sulfate. Des défauts dans cette réaction causent une maladie de surcharge lysosomale autosomale récessive rare : le désordre de Sanfilippo type C (SFC). À ce jour, 54 mutations ont été rapportées chez des patients SFC, incluant 13 mutations des sites d’épissage, 11 insertions et délétions, 8 mutations non-sens, 18 mutations faux-sens et 4 polymorphismes, avec différentes manifestations phénotypiques. Nous avons identifié 10 d’ent

APA, Harvard, Vancouver, ISO, and other styles

Books on the topic "Mucopolysaccharidosis Metabolism Disorders"

1

Frawley, Geoff. Mucopolysaccharidoses. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199764495.003.0064.

Full text

Abstract:

The mucopolysaccharidoses (MPS) are a group of seven chronic progressive diseases caused by deficiencies of 11 different lysosomal enzymes required for the catabolism of glycosaminoglycans (GAGs). Hurler syndrome (MPS IH) is an autosomal recessive storage disorder caused by a deficiency of α‎-L-iduronidase. Hunter syndrome (MPS II) is an X-linked recessive disorder of metabolism involving the enzyme iduronate-2-sulfatase. Many of the MPS clinical manifestations have potential anesthetic implications. Significant airway issues are particularly common due to thickening of the soft tissues, enlar

APA, Harvard, Vancouver, ISO, and other styles

2

Tomatsu, Shunji, Roberto Giugliani, Tadao Orii, Maurizio Scarpa, and Paul Harmatz. Mucopolysaccharidoses Update: Medicine and Health / Endocrinology / Metabolic Disorders. Nova Science Publishers, Incorporated, 2018.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

3

Sybert, Virginia P. Metabolic Disease. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195397666.003.0011.

Full text

Abstract:

Porphyrias – Congenital Erythropoietic Porphyria – Erythropoietic Protoporphyria – Hereditary Coproporphyria – Porphyria Cutanea Tarda – Variegate Porphyria – Mucopolysaccharidoses – Hunter Syndrome – Other Metabolic Disorders – Acrodermatitis Enteropathica – Alkaptonuria – Biotinidase Deficiency – Familial Cutaneous Amyloidosis – Prolidase Deficiency

APA, Harvard, Vancouver, ISO, and other styles

4

Sybert, Virginia P. Metabolic Disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190276478.003.0011.

Full text

Abstract:

Chapter 11 covers Porphyrias (Congenital Erythropoietic Porphyria, Erythropoietic Protoporphyria, Hereditary Coproporphyria, Porphyria Cutanea Tarda, and Variegate Porphyria), Mucopolysaccharidoses (Hunter Syndrome), and Other Metabolic Disorders (Acrodermatitis Enteropathica, Alkaptonuria, Biotinidase Deficiency, Familial Cutaneous Amyloidosis, and Prolidase Deficiency). Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

APA, Harvard, Vancouver, ISO, and other styles

Book chapters on the topic "Mucopolysaccharidosis Metabolism Disorders"

1

Jones, Simon, and Frits A. Wijburg. "Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders." In Inborn Metabolic Diseases, 577–90. Berlin, Heidelberg: Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/978-3-662-49771-5_39.

Full text

APA, Harvard, Vancouver, ISO, and other styles

2

Jones, Simon, and Frits A. Wijburg. "Glycosaminoglycans and Oligosaccharides Disorders: Glycosaminoglycans Synthesis Defects, Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders." In Inborn Metabolic Diseases, 765–83. Berlin, Heidelberg: Springer Berlin Heidelberg, 2022. http://dx.doi.org/10.1007/978-3-662-63123-2_41.

Full text

APA, Harvard, Vancouver, ISO, and other styles

3

Cervós-Navarro, Jorge, and Henry Urich. "Disorders of Glycosaminoglycan Metabolism (Mucopolysaccharidoses)." In Metabolic and Degenerative Diseases of the Central Nervous System, 110–36. Elsevier, 1995. http://dx.doi.org/10.1016/b978-012165250-0/50004-0.

Full text

APA, Harvard, Vancouver, ISO, and other styles

4

Florence, Nicholas. "Pediatric Musculoskeletal Radiology." In Ultrasound Guided Procedures and Radiologic Imaging for Pediatric Anesthesiologists, edited by Anna Clebone, Joshua H. Finkle, and Barbara K. Burian, 155–80. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780190081416.003.0014.

Full text

Abstract:

Chapter 14 examines radiologic images for common and uncommon pediatric musculoskeletal disorders. These include pediatric fractures such as buckle fractures; bowing and greenstick fractures; growth plate, stress, and elbow fractures; avulsion injuries of the pelvis and hip; knee injuries; and nonaccidental trauma. The chapter goes on to look at infection and inflammation, including osteomyelitis, septic arthritis, transient synovitis, and juvenile idiopathic arthritis. Congenital and developmental disorders covered include developmental dysplasia of the hip, slipped capital femoral epiphysis, Legg-Calvé-Perthes disease, Blount disease, congenital foot deformities, scoliosis, neurofibromatosis, osteogenesis imperfecta, osteopetrosis, and dwarfism. Metabolic disorders include rickets, scurvy, lead poisoning, Gaucher disease, and mucopolysaccharidoses. Neoplastic and other aggressive lesions include osteosarcoma, Ewing sarcoma, osteoid osteoma, eosinophilic granuloma, osteochondroma, enchondroma, nonossifying fibromas/fibrous cortical defects, fibrous dysplasia, aneurysmal bone cysts, and unicameral (simple) bone cysts.

APA, Harvard, Vancouver, ISO, and other styles

5

Deegan, Patrick B., and Timothy M. Cox. "Lysosomal disease." In Oxford Textbook of Medicine, edited by Timothy M. Cox, 2121–56. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0235.

Full text

Abstract:

The lysosome is a ubiquitous, single membrane-bond intracellular organelle which continuously recycles biological macromolecules: it not only breaks down cell components but has a dynamic role in nutrient and energy sensing that, through regulatory signalling, is critical for homeostasis and metabolic economy of the cell. More than 80 lysosomal diseases caused by single gene defects are known. Biochemical classification identifies (1) sphingolipidoses; (2) mucopolysaccharidoses; (3) glycoproteinoses; (4) glycogenosis, with or without lysosomal debris derived from subcellular organelles due to impaired autophagy; and (5) miscellaneous conditions with multiple classes of storage material such as the neuronal ceroid lipofuscinoses. Functional classification describes deficiency of (1) a specific acid hydrolase activity, (2) an activator protein, (3) a lysosomal membrane protein or transporter, or (4) abnormal post-translational modification of lysosomal proteins, and (5) abnormal biogenesis of lysosomes. A unified classification will emerge from genetic characterization integrated with clinicopathological manifestations of the individual disorders. Fabry’s and Gaucher’s diseases (glycosphingolipidoses) are probably the most frequent in the general population, but certain lysosomal diseases are over-represented in particular groups where consanguinity or endogamy is high. Other diseases discussed in this chapter include (1) cystinosis, (2) the mucopolysaccharidoses, (3) Pompe’s disease (glycogen storage disease type II), (4) Niemann–Pick diseases, (5) lysosomal acid lipase deficiency, (6) Danon’s disease, and (7) diseases more recently attributed to primary defects in lysosomes and related organelles.

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!