000154279 001__ 154279
000154279 005__ 20240322115503.0
000154279 0247_ $$2doi$$a10.1007/s10072-020-04896-3
000154279 0247_ $$2pmid$$apmid:33188503
000154279 0247_ $$2pmc$$apmc:PMC7955998
000154279 0247_ $$2ISSN$$a0392-0461
000154279 0247_ $$2ISSN$$a1126-5442
000154279 0247_ $$2ISSN$$a1590-1874
000154279 0247_ $$2ISSN$$a1590-3478
000154279 037__ $$aDZNE-2021-00133
000154279 041__ $$aEnglish
000154279 082__ $$a610
000154279 1001_ $$0P:(DE-2719)9000951$$aZimmermann, Milan$$b0$$eFirst author
000154279 245__ $$aTetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis.
000154279 260__ $$aMilano$$bSpringer$$c2021
000154279 3367_ $$2DRIVER$$aarticle
000154279 3367_ $$2DataCite$$aOutput Types/Journal article
000154279 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1711023670_32501
000154279 3367_ $$2BibTeX$$aARTICLE
000154279 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000154279 3367_ $$00$$2EndNote$$aJournal Article
000154279 500__ $$aISSN 1590-3478 not unique: **3 hits**.
000154279 520__ $$aHereditary transthyretin amyloidosis with polyneuropathy (hATTRPN) is an autosomal dominant multi-organ disorder manifesting in the third to fifth decade with the key clinical features of distal and painful sensory loss of the lower limbs and autonomic dysregulation. Motor neuropathy and cardiomyopathy evolve in the course of the disease. Pompe disease is an autosomal recessive disease leading to decreased levels of lysosomal enzyme acid α-glucosidase and proximal muscle weakness. We report the clinical features and diagnostic workup in the rare case of a patient with ATTR amyloidosis and late-onset Pompe disease, both genetically confirmed.We performed a detailed clinical assessment, exome sequencing, and biochemical measurements.The patient presented with a distal, painful hypaesthesia of both legs, a cardiomyopathy, and a muscle weakness in the form of a girdle-type pattern of the arms and legs at the beginning and a spreading to distal muscle groups in the course of disease.This study highlights the importance of searching for co-occurrence of rare monogenetic neuromuscular diseases, especially in cases in which all clinical features can be readily explained by a single gene defect.
000154279 536__ $$0G:(DE-HGF)POF4-352$$a352 - Disease Mechanisms (POF4-352)$$cPOF4-352$$fPOF IV$$x0
000154279 588__ $$aDataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
000154279 650_7 $$2Other$$aAmyloidosis
000154279 650_7 $$2Other$$aAxonal degeneration
000154279 650_7 $$2Other$$aPolyneuropathy
000154279 650_7 $$2Other$$aPompe disease
000154279 650_7 $$2Other$$aTransthyretin
000154279 650_2 $$2MeSH$$aAged
000154279 650_2 $$2MeSH$$aAged, 80 and over
000154279 650_2 $$2MeSH$$aAmyloid Neuropathies, Familial: complications
000154279 650_2 $$2MeSH$$aAmyloid Neuropathies, Familial: genetics
000154279 650_2 $$2MeSH$$aCardiomyopathies
000154279 650_2 $$2MeSH$$aGlycogen Storage Disease Type II: complications
000154279 650_2 $$2MeSH$$aGlycogen Storage Disease Type II: genetics
000154279 650_2 $$2MeSH$$aHumans
000154279 650_2 $$2MeSH$$aMale
000154279 650_2 $$2MeSH$$aMiddle Aged
000154279 650_2 $$2MeSH$$aPolyneuropathies
000154279 650_2 $$2MeSH$$aPrealbumin
000154279 7001_ $$aDeininger, Natalie$$b1
000154279 7001_ $$aWillikens, Sophia$$b2
000154279 7001_ $$aHaack, Tobias B$$b3
000154279 7001_ $$aGrundmann-Hauser, Kathrin$$b4
000154279 7001_ $$aStreubel, Berthold$$b5
000154279 7001_ $$0P:(DE-2719)9001479$$aSchreiber, Melanie$$b6$$udzne
000154279 7001_ $$0P:(DE-2719)9001480$$aLerche, Holger$$b7$$udzne
000154279 7001_ $$0P:(DE-2719)9001481$$aGrimm, Alexander$$b8$$eLast author$$udzne
000154279 773__ $$0PERI:(DE-600)1481772-X$$a10.1007/s10072-020-04896-3$$gVol. 42, no. 4, p. 1523 - 1525$$n4$$p1523 - 1525$$tNeurological sciences$$v42$$x1590-3478$$y2021
000154279 8564_ $$uhttps://link.springer.com/article/10.1007/s10072-020-04896-3
000154279 8564_ $$uhttps://pub.dzne.de/record/154279/files/DZNE-2021-00133.pdf$$yOpenAccess
000154279 8564_ $$uhttps://pub.dzne.de/record/154279/files/DZNE-2021-00133.pdf?subformat=pdfa$$xpdfa$$yOpenAccess
000154279 909CO $$ooai:pub.dzne.de:154279$$popenaire$$popen_access$$pVDB$$pdriver$$pdnbdelivery
000154279 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9000951$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b0$$kDZNE
000154279 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9001479$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b6$$kDZNE
000154279 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9001480$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b7$$kDZNE
000154279 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9001481$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b8$$kDZNE
000154279 9131_ $$0G:(DE-HGF)POF4-352$$1G:(DE-HGF)POF4-350$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lNeurodegenerative Diseases$$vDisease Mechanisms$$x0
000154279 9132_ $$0G:(DE-HGF)POF4-899$$1G:(DE-HGF)POF4-890$$2G:(DE-HGF)POF4-800$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bProgrammungebundene Forschung$$lohne Programm$$vohne Topic$$x0
000154279 9141_ $$y2021
000154279 915__ $$0LIC:(DE-HGF)CCBY4$$2HGFVOC$$aCreative Commons Attribution CC BY 4.0
000154279 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2022-11-29
000154279 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2022-11-29
000154279 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2022-11-29
000154279 915__ $$0StatID:(DE-HGF)1190$$2StatID$$aDBCoverage$$bBiological Abstracts$$d2021-01-29
000154279 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2022-11-29
000154279 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bNEUROL SCI : 2021$$d2022-11-29
000154279 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2021-01-29
000154279 915__ $$0StatID:(DE-HGF)3002$$2StatID$$aDEAL Springer$$d2021-01-29$$wger
000154279 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2022-11-29
000154279 915__ $$0StatID:(DE-HGF)9900$$2StatID$$aIF < 5$$d2022-11-29
000154279 915__ $$0StatID:(DE-HGF)0510$$2StatID$$aOpenAccess
000154279 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2022-11-29
000154279 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2021-01-29
000154279 915__ $$0StatID:(DE-HGF)1110$$2StatID$$aDBCoverage$$bCurrent Contents - Clinical Medicine$$d2022-11-29
000154279 915__ $$0StatID:(DE-HGF)0420$$2StatID$$aNationallizenz$$d2022-11-29$$wger
000154279 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2022-11-29
000154279 9201_ $$0I:(DE-2719)6000018$$kTübingen common$$lTübingen common$$x0
000154279 980__ $$ajournal
000154279 980__ $$aVDB
000154279 980__ $$aUNRESTRICTED
000154279 980__ $$aI:(DE-2719)6000018
000154279 9801_ $$aFullTexts