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Genetic neuromuscular disorders : a case-based approach /
This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differenti...
| Clasificación: | Libro Electrónico |
|---|---|
| Autor principal: | |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
Cham :
Springer,
©2018.
|
| Edición: | 2nd ed. |
| Temas: | |
| Acceso en línea: | Texto completo |
MARC
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| 037 | |n Title purchased via APUC SHEDL / ScopNet ebook agreement |n Medicine (Springer-11650) | ||
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| 100 | 1 | |a Angelini, C. |q (Corrado) |1 https://id.oclc.org/worldcat/entity/E39PBJcKHvjb6mk7BpV6rYk7HC | |
| 245 | 1 | 0 | |a Genetic neuromuscular disorders : |b a case-based approach / |c Corrado Angelini. |
| 250 | |a 2nd ed. | ||
| 260 | |a Cham : |b Springer, |c ©2018. | ||
| 300 | |a 1 online resource (392 pages) | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
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| 347 | |b PDF | ||
| 505 | 0 | |a Foreword -- Contents -- Part I: Muscular Dystrophies -- 1: Duchenne Muscular Dystrophy -- Description -- Case Report -- Laboratory Exams -- Key Points -- References -- 2: Duchenne Muscular Dystrophy Carrier -- Description -- Case Report -- Laboratory Exams -- Key Points -- References -- 3: Becker Muscular Dystrophy -- Description -- Case Reports -- Patient 1 (Fig. Â 3.1) -- Patient 2 (Fig. Â 3.1) -- Patient 3 (Fig. Â 3.1) -- Patient 4 (Fig. Â 3.1) -- Patient 5 (Fig. Â 3.1) -- Patient 6 (Fig. Â 3.1) -- Laboratory Exam | |
| 505 | 8 | |a Key PointsReferences -- 4: Emery-Dreifuss Muscular Dystrophy Type 1 -- Description -- Case Report -- Laboratory Exam -- Key Points -- References -- 5: Emery-Dreifuss Muscular Dystrophy Type 2 -- Description -- Case Report -- Patient 1 -- Patient 2 -- Laboratory Exam -- Patient 1 -- Patient 2 -- Key Points -- References -- 6: Emery-Dreifuss Muscular Dystrophy Type 4 -- Description -- Case Report -- Patient 1 -- Patient 2 -- Patient 3 -- Laboratory Exam -- Key Points -- References | |
| 505 | 8 | |a 7: Limb-Girdle Muscular Dystrophy Type 1A Description -- Case Report -- Patient 1 -- Family 2 -- Laboratory Exam -- Patient 1 -- Family 2 -- Key Points -- References -- 8: Limb-Girdle Muscular Dystrophy Type 1B -- Description -- Case Report -- Laboratory Exams -- Key Points -- References -- 9: Limb-Girdle Muscular Dystrophy Type 1C -- Description -- Case Reports -- Patient 1 -- Patient 2 -- Patient 3 -- Laboratory Exams -- Patient 1 -- Patient 2 -- Patient 3 -- Key Points -- References | |
| 505 | 8 | |a 10: Limb-Girdle Muscular Dystrophy Type 1F Description -- Case Report -- Patient 1 -- Patient 2 -- Laboratory Exams -- Key Points -- References -- 11: Limb-Girdle Muscular Dystrophy Type 2A -- Description -- Case Reports -- Patient 1 -- Patient 2 -- Patient 3 -- Laboratory Exams -- Patient 1 -- Patient 2 -- Patient 3 -- Key Points -- References -- 12: Limb-Girdle Muscular Dystrophy Type 2B -- Description -- Case Report -- Patient 1 -- Family 2 -- Key Points -- References | |
| 505 | 8 | |a 13: Limb-Girdle Muscular Dystrophy Type 2C Description -- Case Report -- Patient 1 -- Patient 2 -- Laboratory Exams -- Patient 1 -- Patient 2 -- Key Points -- References -- 14: Limb-Girdle Muscular Dystrophy Type 2D -- Description -- Case Report -- Patient 1 -- Patient 2 -- Laboratory Exam -- Patient 1 -- Patient 2 -- Key Points -- References -- 15: Limb-Girdle Muscular Dystrophy Type 2E -- Description -- Case Report -- Patient 1 -- Patient 2 -- Patient 3 -- Laboratory Exams -- Key Points -- References | |
| 500 | |a ""16: Limb-Girdle Muscular Dystrophy Type 2F"" | ||
| 500 | |a Includes index. | ||
| 588 | 0 | |a Print version record. | |
| 520 | |a This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents. | ||
| 504 | |a Includes bibliographical references and index. | ||
| 590 | |a ProQuest Ebook Central |b Ebook Central Academic Complete | ||
| 650 | 0 | |a Neuromuscular diseases |x Genetic aspects. | |
| 650 | 6 | |a Maladies neuromusculaires |x Aspect génétique. | |
| 650 | 7 | |a Neuromuscular diseases |x Genetic aspects |2 fast | |
| 758 | |i has work: |a Genetic neuromuscular disorders (Text) |1 https://id.oclc.org/worldcat/entity/E39PCFpDbyRvfPqRC4fprgpycX |4 https://id.oclc.org/worldcat/ontology/hasWork | ||
| 776 | 0 | 8 | |i Print version: |a Angelini, Corrado. |t Genetic Neuromuscular Disorders : A Case-Based Approach. |d Cham : Springer International Publishing, ©2017 |z 9783319564531 |
| 856 | 4 | 0 | |u https://ebookcentral.uam.elogim.com/lib/uam-ebooks/detail.action?docID=5091962 |z Texto completo |
| 938 | |a EBL - Ebook Library |b EBLB |n EBL5091962 | ||
| 994 | |a 92 |b IZTAP | ||