Log in

Relevant bibliographies by topics / Mucopolysaccharidosi / Books

Books on the topic 'Mucopolysaccharidosi'

To see the other types of publications on this topic, follow the link: Mucopolysaccharidosi.

Author: Grafiati

Published: 9 March 2023

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

Select a source type:

Consult the top 37 books for your research on the topic 'Mucopolysaccharidosi.'

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.

Browse books on a wide variety of disciplines and organise your bibliography correctly.

1

National Institutes of Health (U.S.) and National Institute of Neurological Disorders and Stroke (U.S.). Office of Communications and Public Liaison, eds. The mucopolysaccharidoses. Bethesda, Md: U.S. Dept. of Health and Human Services, National Institutes of Health, 2003.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

2

1935-, Graucob E., ed. Hematologic cytology of storage diseases. Berlin: Springer-Verlag, 1985.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

3

Liping, Zhang, ed. Nian duo tang di jing ren xiao li. Taibei Xian Xindian Shi: Zheng yi chu ban she, 1996.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

4

1949-, Lane D. A., Björk Ingemar, and Lindahl Ulf 1939-, eds. Heparin and related polysaccharides. New York: Plenum Press, 1992.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

5

Balagurunathan, Kuberan, Hiroshi Nakato, and Umesh R. Desai. Glycosaminoglycans: Chemistry and biology. New York: Humana Press, 2014.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

6

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, enlarged tongue, short immobile neck, and limited mobility of the cervical spine and temporomandibular joints. Spinal deformities, hepatosplenomegaly, airway granulomatous tissue, and recurrent lung infections may inhibit pulmonary function. Odontoid dysplasia and radiographic subluxation of C1 on C2 is common and may cause anterior dislocation of the atlas and spinal cord compression.

APA, Harvard, Vancouver, ISO, and other styles

7

Seipel, Catherine P., and Titilopemi A. O. Aina. Mucopolysaccharidoses. Edited by Erin S. Williams, Olutoyin A. Olutoye, Catherine P. Seipel, and Titilopemi A. O. Aina. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190678333.003.0059.

Full text

Abstract:

Mucopolysaccharidoses are progressive disease processes characterized by deficiencies in lysosomal enzymes required for catabolism of glycosaminoglycans. This leads to the accumulation of glycosaminoglycans (GAGs) in multiple organs and tissue. In particular, the deposition of GAGs in soft tissue, the central nervous system, and the cervical spine have implications for the anesthetic management of these patients. A detailed history and examination, with a focus on cardiopulmonary status and past airway management, is required pre-operatively. Enzyme replacement therapy and, in select cases, hematopoietic stem cell transplantation may modify disease progression. This chapter illustrates the perioperative considerations necessary to care for patients with this uncommon disease.

APA, Harvard, Vancouver, ISO, and other styles

8

Smith, Ashley. Mucopolysaccharidoses. Edited by Kirk Lalwani, Ira Todd Cohen, Ellen Y. Choi, and Vidya T. Raman. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190685157.003.0049.

Full text

Abstract:

Mucopolysaccharidoses (MPS) are a group of genetic diseases that affect connective tissues via lack of key lysosomal enzymes. This deficiency leads to storage of partially degraded glycosaminoglycans that build up in multiple organ systems. There are many types of MPS disorders and each has varying features, expected lifespan, enzyme affected, and resulting clinical effect. All MPS are autosomal recessive except Hunter syndrome, which is X-linked. Because each type has a different enzyme deficiency, each has different comorbidities and unique treatment modalities. These patients require multiple anesthetics for diagnostic and surgical interventions. This chapter discusses treatment ad complication issues regarding MPS.

APA, Harvard, Vancouver, ISO, and other styles

9

Hendriksz, Christian J., and Francois Karstens. Mucopolysaccharidosis in Adults. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0054.

Full text

Abstract:

There are 8 different types of diseases of the mucopolysaccharides, each caused by a deficiency in one of 10 different enzymes involved in the degradation of glycosaminoglycans (GAGs). Partially degraded GAGs accumulate within the lysosomes of many different cell types and lead to clinical symptoms and excretion of large amounts of GAGs in the urine. Heritability is autosomal recessive except for MPS type II, which is X-linked. The disorders are chronic and progressive and, although the specific types all have their individual features, they share an abundance of clinical similarities. All involve the musculoskeletal, the cardiovascular, the pulmonary and the central nervous system.

APA, Harvard, Vancouver, ISO, and other styles

10

Wolstenholme, G. E. W., and Maeve O'Connor. Chemistry and Biology of Mucopolysaccharides. Wiley & Sons, Incorporated, John, 2009.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

11

Staff, CIBA Foundation Symposium. Chemistry and Biology of Mucopolysaccharides. Wiley & Sons, Limited, John, 2008.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

12

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

13

Evered, David, and Julie Whelan. Biology of Hyaluronan. Wiley & Sons, Incorporated, John, 2008.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

14

Evered, David, CIBA Foundation Symposium, and Julie Whelan. Biology of Hyaluronan. Wiley & Sons, Limited, John, 2007.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

15

Lutzko, Carolyn Mary. Gene therapy for canine mucopolysaccharidosis type I. 1999.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

16

Casu, Job Harenberg Benito. Nonanticoagulant Actions of Glycosaminoglycans. Springer, 2011.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

17

Hansen, Hans Georg. Hematologic Cytology of Storage Diseases. Springer, 2011.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

18

(Editor), Vittorio Zambotti, ed. Glycolipids, Glycoproteins, and Mucopolysaccharides of the Nervous System. Springer, 1995.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

19

Varma, Rajendra, and Ranbir S. Varma. Mucopolysaccharides - Glycosaminoglycans - of Body Fluids in Health and Disease. de Gruyter GmbH, Walter, 2012.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

20

Karsten, Stanislav L. Molecular Investigation of Mucopolysaccharidosis Type II (Hunter Syndrome) in Man. Uppsala Universitet, 2000.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

21

Zambotti, V. Glycolipids, Glycoproteins, and Mucopolysaccharides of the Nervous System : Proceedings of the International Symposium on Glycolipids, Glycoproteins, and Mucopolysaccharides of the Nervous System: Chemical and Metabolic Correlations Held in Milan, Italy, July 19-21 1971. Springer London, Limited, 2013.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

22

Zambotti, V. Glycolipids, Glycoproteins, and Mucopolysaccharides of the Nervous System : Proceedings of the International Symposium on Glycolipids, Glycoproteins, and Mucopolysaccharides of the Nervous System: Chemical and Metabolic Correlations Held in Milan, Italy, July 19-21 1971. Springer, 2012.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

23

Hain, Richard D. W., and Satbir Singh Jassal. Specific non-malignant diseases. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198745457.003.0017.

Full text

Abstract:

The number of life-limiting conditions in paediatrics is vast, and paediatric palliative medicine is generally based equally on both malignant and non-malignant conditions. There are several medical conditions that are common enough for it to be helpful to know about them in more detail. As all the conditions, by definition, have no cure, it is best to tackle each symptom with which the child presents individually, never forgetting that medical intervention is not the only modality open to us. Common conditions, such as Duchenne muscular dystrophy, mucopolysaccharidosis type 1, mucopolysaccharidosis type 3, Batten’s disease, spinal muscular atrophy, and trisomy 18, are covered in this chapter. Details of clinical features and prognosis are described for each.

APA, Harvard, Vancouver, ISO, and other styles

24

Pomin, Vitor H. Chondroitin Sulfate: Structure, Uses and Health Implications. Nova Science Publishers, Incorporated, 2013.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

25

Balagurunathan, Kuberan, Hiroshi Nakato, Umesh Desai, and Yukio Saijoh. Glycosaminoglycans: Methods and Protocols. Springer, 2022.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

26

Balagurunathan, Kuberan, Hiroshi Nakato, Umesh Desai, and Yukio Saijoh. Glycosaminoglycans: Chemistry and Biology. Springer, 2021.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

27

Balagurunathan, Kuberan, Hiroshi Nakato, and Umesh R. Desai. Glycosaminoglycans: Chemistry and Biology. Springer New York, 2016.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

28

Zhang, Lijuan. Glycosaminoglycans in Development, Health and Disease. Elsevier Science & Technology Books, 2010.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

29

Zhang, Lijuan. Glycosaminoglycans in Development, Health and Disease. Elsevier Science & Technology Books, 2010.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

30

Nelson, John. The mucopolysaccharidoses in Northern Ireland: A clinical, genetic and biochemical study. 1986.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

31

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

32

Facey, Susan P. d. John. Application of 1,9-dimthylmethylene blue in the measurement of glycosaminoglycans for mucopolysaccharidosis screening. 1995.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

33

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

34

Publications, ICON Health. The Official Parent's Sourcebook on Mucopolysaccharidoses: A Revised and Updated Directory for the Internet Age. Icon Health Publications, 2002.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

35

Pitt, Matthew. Nerve damage and entrapment syndromes. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198754596.003.0005.

Full text

Abstract:

In this chapter, the pathological classification of nerve damage using the Sunderland classification is described. The neurophysiological findings that allow distinction between neurapraxia, axonotmesis, and neurotmesis are highlighted. Nerve entrapment syndromes involving the upper and lower limb are discussed according to the nerve involved, with particular emphasis on those commonly seen in children. In the upper limb, median, ulnar, and radial nerve entrapments are described with particular emphasis on the carpal tunnel syndrome in mucopolysaccharidosis. Also mentioned here are the thoracic outlet syndrome and neuralgic amyotrophy. In the leg, femoral nerve and sciatic nerve syndromes are discussed with particular emphasis on the differing aetiologies of sciatic nerve palsy in children.

APA, Harvard, Vancouver, ISO, and other styles

36

Foster, Brogan, and Paul A. Brogan. Systemic diseases. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198738756.003.0004.

Full text

Abstract:

This chapter covers the full spectrum of systemic diseases in paediatric rheumatology including: the systemic vasculitides (HSP, Kawasaki disease, PAN, ANCA-associated vasculitis, Takayasu arteritis, Behçet's disease, cerebral vasculitis, and many others); juvenile SLE; scleroderma; JDM; overlap syndromes; antiphospholipid syndrome; sarcoid; and paediatric uveitis. In addition, it provides updated descriptions and treatment approaches for autoinflammatory diseases, including recently described diseases such as DADA, SAVI, CANDLE, and many others. Other systemic diseases described in detail include mucopolysaccharidoses and mucolipidoses; musculoskeletal features of chromosomal abnormalities; cystic fibrosis; and inflammatory bowel disease. Treatment guidelines for all these systemic diseases have been fully updated, and aligned with recent evidence-based/consensus European guidance.

APA, Harvard, Vancouver, ISO, and other styles

37

Newell-Price, John, Alia Munir, and Miguel Debono. Thyroid disease. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0186.

Full text

Abstract:

This chapter addresses six topics in thyroid disease: hypothyroidism; thyrotoxicosis/hyperthyroidism; thyroiditis; amiodarone-induced thyroid disease; thyroid storm; and multinodular goitre and solitary adenomas. Hypothyroidism occurs when there is insufficient secretion of thyroid hormones, commonly caused by autoimmune disease. Subclinical hypothyroidism is when the plasma level of thyroid-stimulating hormone is elevated, but free thyroxine is in the normal range. Myxoedema is severe hypothyroidism with accumulation of mucopolysaccharides in the dermis and other tissues. Thyrotoxicosis results from exposure to excessive thyroid hormone. The term ‘hyperthyroidism’ denotes those conditions in which thyroid hyperfunction results in thyrotoxicosis. Thyroiditis is inflammation of the thyroid gland, and often leads to transient thyrotoxicosis followed by hypothyroidism. Abnormalities of the thyroid occur in up to half of those on amiodarone therapy, with both thyrotoxicosis and hypothyroidism. Thyroid storm occurs as a result of exacerbation of thyrotoxicosis, and is a rare but life-threatening condition. Thyroid nodules are common, and may be multiple or single, functioning or non-functioning, and benign or malignant.

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!