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010 _a 2019744204
020 _a9783319564548
024 7 _a10.1007/978-3-319-56454-8
_2doi
035 _a(DE-He213)978-3-319-56454-8
040 _aDLC
_beng
_epn
_erda
_cDLC
_dES-VaUE
050 _aRC669
_b.C55 2018 EB
072 7 _aMED056000
_2bisacsh
072 7 _aMJN
_2bicssc
072 7 _aMKJ
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082 0 4 _a616.8
_223
100 1 _aAngelini, Corrado.
_eauthor.
245 1 0 _aGenetic Neuromuscular Disorders :
_bA Case-Based Approach
_cby Corrado Angelini.
250 _a2nd ed. 2018.
264 1 _aCham
_bSpringer International Publishing :
_bImprint: Springer
_c2018.
300 _a1 online resource (XI, 433 pages 77 illustrations, 72 illustrations in color.)
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
505 0 _aMuscular Dystrophies -- Congenital Myopathies -- Ion Channel Disorders -- Metabolic Myopathies -- Neurogenic Disorders.
520 _aThis 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.
588 _aDescription based on publisher-supplied MARC data.
650 0 _aNeurology.
650 1 4 _aNeurology.
_0https://scigraph.springernature.com/ontologies/product-market-codes/H36001
776 0 8 _iPrint version:
_tGenetic neuromuscular disorders : a case-based approach
_z9783319564531
_w(DLC) 2017952250
776 0 8 _iPrinted edition:
_z9783319564531
776 0 8 _iPrinted edition:
_z9783319564555
856 4 0 _uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-319-56454-8
_zAcceso a este recurso digital (usuarios Universidad Europea de Valencia)
906 _a0
_bibc
_corigres
_du
_encip
_f20
_gy-gencatlg
942 _2lcc
_cLE
998 _db