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Книги з теми "Gauchers disease"

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Автор: Grafiati

Опубліковано: 6 вересня 2023

Оновлено: 7 вересня 2023

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1

Wendy, Schubert, and National Institutes of Health (U.S.). Clinical Center, eds. Understanding Gaucher disease. [Bethesda, Md.?]: Clinical Center, U.S. Department of Health and Human Services, Public Health Service, National Institutes of Health, 1990.

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2

National Institutes of Health (U.S.). Office of Clinical Center Communications, ed. Understanding Gaucher disease. [Bethesda, Md.?]: Clinical Center Communications, National Institutes of Health, 1988.

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3

Kari, Carol. Understanding Gaucher disease. [Bethesda, Md.?]: Clinical Center, U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, 1990.

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4

Grabowski, Gregory A. Gaucher Disease: Basic and Clinical Perspectives. Unitec House, 2 Albert Place, London N3 1QB, UK: Future Medicine Ltd, 2013. http://dx.doi.org/10.2217/9781780842011.

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5

Kari, Carol. Gaucher's disease: A nurse's handbook : Clinical Center. [Bethesda, Md.?]: U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, Office of Clinical Reports and Inquiries, Clinical Center, 1986.

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6

National Institutes of Health (U.S.). Office of Clinical Reports and Inquiries, ed. Gaucher's disease: A nurse's handbook : Clinical Center. Bethesda, Md.?]: U.S. Department of Health and Human Services, Public Health Service, National Institutes of Health, Office of Clinical Reports and Inquiries, Clinical Center, 1986.

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7

M, Garber Alan, and United States. Congress. Office of Technology Assessment., eds. Federal and private roles in the development and provision of alglucerase therapy for Gaucher disease. Washington, DC: Office of Technology Assessment, 1992.

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8

A, Grabowski Gregory, and Gardiner-Caldwell SynerMed, eds. A clinician's guide to Gaucher disease: A treatment algorithm. Califon, N.J: Gardiner-Caldwell SynerMed, 1994.

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9

Karen, Bellenir, ed. Genetic disorders sourcebook: Basic information about heritable diseases and disorders such as Down syndrome, PKU, hemophilia, Von Willebrand disease, Gaucher disease, Tay-Sachs disease, and sickle cell disease ... Detroit, MI: Omnigraphics, 1996.

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10

Bryant, Jackie. Ceredase in the treatment of Type 1 Gaucher's disease. Bristol: R&D Directorate, NHS Executive South and West, 1996.

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11

Beratan, Marian E. Gaucher disease: January 1984 through January 1995, plus selected earlier citations : 594 citations. Bethesda, Md. (8600 Rockville Pike): U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, National Library of Medicine, Reference Section, 1995.

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12

National Institutes of Health (U.S.), ed. Gaucher disease: Current issues in diagnosis and treatment : National Institutes of Health Technology Assessment Conference statement, February 27-March 1, 1995. Bethesda, MD: NIH Office of Medical Applications of Research, 1995.

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13

National Institutes of Health Technology Assessment Conference (1995 Bethesda, Md.). NIH Technology Assessment Conference on Gaucher Disease: Current issues in diagnosis and treatment : February 27-March 1, 1995 : [program and abstracts]. [Bethesda, Md: National Institutes of Health, 1995.

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14

Surprised to be standing: A spiritual journey. [United States]: Healing Light, 2011.

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15

National Institutes of Health Technology Assessment Conference (1995 Bethesda, Md.). NIH Technology Assessment Conference on Gaucher Disease: Current Issues in Diagnosis and Treatment : NIH Technology Assessment Conference, February 27-March 1, 1995, Warren Grant Magnuson Clinical Center, Masur Auditorium, National Institutes of Health, Bethesda, Maryland. [Bethesda, Md: The Institutes, 1995.

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16

Parker, James N., and Philip M. Parker. Gaucher disease: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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17

Parker, James N., and Philip M. Parker. Type 1 gaucher disease: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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18

Parker, James N., and Philip M. Parker. Type 3 gaucher disease: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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19

Parker, James N., and Philip M. Parker. Type 2 gaucher disease: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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20

Gaucher disease. Boca Raton: CRC/Taylor & Francis, 2007.

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21

Futerman, Anthony H., and Ari Zimran. Gaucher Disease. Taylor & Francis Group, 2006.

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22

Futerman, Anthony H., and Ari Zimran. Gaucher Disease. Taylor & Francis Group, 2019.

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23

Futerman, Anthony H., Anthony H. Futreman, and Ari Zimran. Gaucher Disease. Taylor & Francis Group, 2010.

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24

Futerman, Anthony H., and Ari Zimran. Gaucher Disease. Taylor & Francis Group, 2006.

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25

Gaucher disease. Boca Raton, FL: CRC/Taylor & Francis, 2006.

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26

Hollak, Carla E. M. Gaucher Disease. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0047.

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Gaucher disease is frequently diagnosed in adulthood and may manifest at any age. Chronic neuronopathic forms are rarely seen but may come to the attention of the adult physician. Nonneuronopathic or type 1 disease is extremely variable. Main symptoms are cytopenia, hepatosplenomegaly and bone disease. The majority of patients diagnosed in adulthood present with thrombocytopenia and splenomegaly. In moderate to severe disease, treatment with intravenous enzyme replacement is highly effective. Substrate reduction therapy with miglustat or eliglustat is an oral alternative for some. Awareness of a number of severe complications and associated conditions, including irreversible bone disease, rare cancers and Parkinson's disease, is of importance.

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27

Gaucher Disease. CRC, 2006.

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28

Provan, Drew, Trevor Baglin, Inderjeet Dokal, and Johannes de Vos. Rare diseases. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199683307.003.0018.

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29

Bennett, Lunawati L. Gaucher's Disease: From Diagnosis to Treatment. Nova Science Publishers, Incorporated, 2020.

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30

Bennett, Lunawati L. Gaucher's Disease: From Diagnosis to Treatment. Nova Science Publishers, Incorporated, 2020.

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31

Zimran Gaucher's Disease - Haematology V10 No 4. Bailliere Tindall, 1998.

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32

Michels, Virginia V. Genetics. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199755691.003.0276.

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Genetic factors play a role in the development of many types of human disease. Genetic determinants may be chromosome abnormalities (Down syndrome, Kleinfelter syndrome, Turner syndrome), single gene defects (dilated and hypertrophic cardiomyopathies, Ehlers-Danlos syndrome, Marfan syndrome, neurofibromatosis, tuberous sclerosis, Gaucher disease, cystic fibrosis, sickle cell disease), mitochondrial mutations (MELAS, MERRF, Kearns-Sayre syndrome), or epigenetic or multifactorial factors. Genetics testing methods are also reviewed.

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33

Hollak, Carla E. M. Skeletal Abnormalities. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0072.

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The skeleton is frequently involved in inborn error of metabolism as part of a chronic, multisystem disease. Several disorders in adulthood may present with skeletal symptoms as a first sign of an underlying metabolic disease. Examples are Gaucher disease, alkaptonuria, hypofosfatasia or hereditary hypophosphatemic rickets. In addition, secondary skeletal problems, specifically osteoporosis, is a frequent complication of a wide range of inborn errors of metabolism. The presence of additional symptoms, specific radiographical appearance and/or biochemical abnormalities can assist in making the appropriate diagnosis.

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34

Publications, ICON Health. Gaucher Disease - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References. ICON Health Publications, 2004.

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35

Steensma, David P. Benign Hematology. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199755691.003.0294.

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The major forms of benign hematologic conditions are anemia, neutropenia, transfusion reactions, Gaucher disease, and porphyria. Anemia is a sign of disease rather than a disease itself. Anemia results from 1 or more of 3 pathologic mechanisms: inadequate production of red blood cells (RBCs) by the bone marrow, blood loss, or premature destruction of RBCs. The major causes of neutropenia include hematologic neoplasm, metastatic neoplasm involving the marrow, irradiation, vitamin B12 deficiency and folate deficiency, drugs, infections, congenital or acquired primary disorders of hematopoiesis, autoimmune neutropenia, hypersplenism, hemodilution, and benign idiopathic neutropenia. The porphyrias are enzyme disorders that are autosomal dominant with low disease penetrance, except for congenital erythropoietic porphyria, which is autosomal recessive, and porphyria cutanea tarda, which may be acquired and is associated with hepatitis C and hemochromatosis.

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36

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

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37

Minorry, Karol Yurry. Causes of Spleen Pain: Trauma,Splenic Abscess,Blood Flow Disorders,Viral Infections,Malaria,Sickle Cell Disease,Gaucher Disease,Liver Cirrhosis,Spleen Cancer,Leukemia. Independently Published, 2021.

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38

News, PM Medical Health. 21st Century Complete Medical Guide to Gaucher¿s Disease, Authoritative Government Documents, Clinical References, and Practical Information for Patients and Physicians (CD-ROM). Progressive Management, 2004.

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39

Karatasakis, G., and G. D. Athanassopoulos. Cardiomyopathies. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199599639.003.0019.

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Echocardiography is a key diagnostic method in the management of patients with cardiomyopathies.The main echocardiographic findings of hypertrophic cardiomyopathy are asymmetric hypertrophy of the septum, increased echogenicity of the myocardium, systolic anterior motion, turbulent left ventricular (LV) outflow tract blood flow, intracavitary gradient of dynamic nature, mid-systolic closure of the aortic valve and mitral regurgitation. The degree of hypertrophy and the magnitude of the obstruction have prognostic meaning. Echocardiography plays a fundamental role not only in diagnostic process, but also in management of patients, prognostic stratification, and evaluation of therapeutic intervention effects.In idiopathic dilated cardiomyopathy, echocardiography reveals dilation and impaired contraction of the LV or both ventricles. The biplane Simpson’s method incorporates much of the shape of the LV in calculation of volume; currently, three-dimensional echocardiography accurately evaluates LV volumes. Deformation parameters might be used for detection of early ventricular involvement. Stress echocardiography using dobutamine or dipyridamole may contribute to risk stratification, evaluating contractile reserve and left anterior descending flow reserve. LV dyssynchrony assessment is challenging and in patients with biventricular pacing already applied, optimization of atrio-interventricular delays should be done. Specific characteristics of right ventricular dysplasia and isolated LV non-compaction can be recognized, resulting in an increasing frequency of their prevalence. Rare forms of cardiomyopathy related with neuromuscular disorders can be studied at an earlier stage of ventricular involvement.Restrictive and infiltrative cardiomyopathies are characterized by an increase in ventricular stiffness with ensuing diastolic dysfunction and heart failure. A variety of entities may produce this pathological disturbance with amyloidosis being the most prevalent. Storage diseases (Fabry, Gaucher, Hurler) are currently treatable and early detection of ventricular involvement is of paramount importance for successful treatment. Traditional differentiation between constrictive pericarditis (surgically manageable) and the rare cases of restrictive cardiomyopathy should be properly performed.

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40

Osteoporosis sourcebook: Basic consumer health information about primary and secondary osteoporosis and juvenile osteoporosis and related conditions, including fibrous dysplasia, Gaucher disease, hyperthyroidism, hypophosphatasia, myeloma, osteopetrosis, osteogenesis imperfecta, and Paget's disease ; along with information about risk factors, treatments, traditional and nontraditional pain management, a glossary of related terms , and a directory of resources. Detroit, MI: Omnigraphics, 2001.

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