A clinical case of adult onset Niemann–Pick disease type C

The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage disease. It highlights the main clinical manifestations and classification of the disease. There is information about developed pathogenic migl...
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Autor*in:	E. V. Saifullina [verfasserIn] R. V. Magzhanov [verfasserIn] A. K. Mardanova [verfasserIn] T. Yu. Proshlyakova [verfasserIn] E. Yu. Zakharova [verfasserIn] S. A. Klyushnikov [verfasserIn] S. N. Illarioshkin [verfasserIn]

Format:	E-Artikel
Sprache:	Russisch

Erschienen:	2016

Schlagwörter:	lysosomal storage disease niemann–pick disease type c vertical supranuclear gaze palsy splenomegaly ataxia dystonia dementia mental disorders oxysterols molecular genetic analysist

Übergeordnetes Werk:	In: Неврология, нейропсихиатрия, психосоматика - IMA-PRESS LLC, 2015, 8(2016), 3, Seite 66-70
Übergeordnetes Werk:	volume:8 ; year:2016 ; number:3 ; pages:66-70

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.14412/2074-2711-2016-3-66-70

Katalog-ID:	DOAJ084287640

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allfieldsSound	10.14412/2074-2711-2016-3-66-70 doi (DE-627)DOAJ084287640 (DE-599)DOAJ584973fbed9140e08323e26d8768098f DE-627 ger DE-627 rakwb rus RC346-429 E. V. Saifullina verfasserin aut A clinical case of adult onset Niemann–Pick disease type C 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage disease. It highlights the main clinical manifestations and classification of the disease. There is information about developed pathogenic miglustat substrate reduction therapy for NPC. The authors describe their clinical case of adult-onset NPC in a 32-year-old female patient. The clinical syndrome and the results of laboratory and instrumental studies that could establish an accurate diagnosis and determine indications for pathogenetic therapy are given in detail. lysosomal storage disease niemann–pick disease type c vertical supranuclear gaze palsy splenomegaly ataxia dystonia dementia mental disorders oxysterols molecular genetic analysist Neurology. Diseases of the nervous system R. V. Magzhanov verfasserin aut A. K. Mardanova verfasserin aut T. Yu. Proshlyakova verfasserin aut E. Yu. Zakharova verfasserin aut S. A. Klyushnikov verfasserin aut S. N. Illarioshkin verfasserin aut In Неврология, нейропсихиатрия, психосоматика IMA-PRESS LLC, 2015 8(2016), 3, Seite 66-70 (DE-627)173670043X 23101342 nnns volume:8 year:2016 number:3 pages:66-70 https://doi.org/10.14412/2074-2711-2016-3-66-70 kostenfrei https://doaj.org/article/584973fbed9140e08323e26d8768098f kostenfrei https://nnp.ima-press.net/nnp/article/view/649 kostenfrei https://doaj.org/toc/2074-2711 Journal toc kostenfrei https://doaj.org/toc/2310-1342 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2016 3 66-70
language	Russian
source	In Неврология, нейропсихиатрия, психосоматика 8(2016), 3, Seite 66-70 volume:8 year:2016 number:3 pages:66-70
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institution	findex.gbv.de
topic_facet	lysosomal storage disease niemann–pick disease type c vertical supranuclear gaze palsy splenomegaly ataxia dystonia dementia mental disorders oxysterols molecular genetic analysist Neurology. Diseases of the nervous system
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callnumber-first	R - Medicine
author	E. V. Saifullina
spellingShingle	E. V. Saifullina misc RC346-429 misc lysosomal storage disease misc niemann–pick disease type c misc vertical supranuclear gaze palsy misc splenomegaly misc ataxia misc dystonia misc dementia misc mental disorders misc oxysterols misc molecular genetic analysist misc Neurology. Diseases of the nervous system A clinical case of adult onset Niemann–Pick disease type C
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topic_title	RC346-429 A clinical case of adult onset Niemann–Pick disease type C lysosomal storage disease niemann–pick disease type c vertical supranuclear gaze palsy splenomegaly ataxia dystonia dementia mental disorders oxysterols molecular genetic analysist
topic	misc RC346-429 misc lysosomal storage disease misc niemann–pick disease type c misc vertical supranuclear gaze palsy misc splenomegaly misc ataxia misc dystonia misc dementia misc mental disorders misc oxysterols misc molecular genetic analysist misc Neurology. Diseases of the nervous system
topic_unstemmed	misc RC346-429 misc lysosomal storage disease misc niemann–pick disease type c misc vertical supranuclear gaze palsy misc splenomegaly misc ataxia misc dystonia misc dementia misc mental disorders misc oxysterols misc molecular genetic analysist misc Neurology. Diseases of the nervous system
topic_browse	misc RC346-429 misc lysosomal storage disease misc niemann–pick disease type c misc vertical supranuclear gaze palsy misc splenomegaly misc ataxia misc dystonia misc dementia misc mental disorders misc oxysterols misc molecular genetic analysist misc Neurology. Diseases of the nervous system
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title	A clinical case of adult onset Niemann–Pick disease type C
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title_full	A clinical case of adult onset Niemann–Pick disease type C
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title_sort	clinical case of adult onset niemann–pick disease type c
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title_auth	A clinical case of adult onset Niemann–Pick disease type C
abstract	The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage disease. It highlights the main clinical manifestations and classification of the disease. There is information about developed pathogenic miglustat substrate reduction therapy for NPC. The authors describe their clinical case of adult-onset NPC in a 32-year-old female patient. The clinical syndrome and the results of laboratory and instrumental studies that could establish an accurate diagnosis and determine indications for pathogenetic therapy are given in detail.
abstractGer	The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage disease. It highlights the main clinical manifestations and classification of the disease. There is information about developed pathogenic miglustat substrate reduction therapy for NPC. The authors describe their clinical case of adult-onset NPC in a 32-year-old female patient. The clinical syndrome and the results of laboratory and instrumental studies that could establish an accurate diagnosis and determine indications for pathogenetic therapy are given in detail.
abstract_unstemmed	The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage disease. It highlights the main clinical manifestations and classification of the disease. There is information about developed pathogenic miglustat substrate reduction therapy for NPC. The authors describe their clinical case of adult-onset NPC in a 32-year-old female patient. The clinical syndrome and the results of laboratory and instrumental studies that could establish an accurate diagnosis and determine indications for pathogenetic therapy are given in detail.
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title_short	A clinical case of adult onset Niemann–Pick disease type C
url	https://doi.org/10.14412/2074-2711-2016-3-66-70 https://doaj.org/article/584973fbed9140e08323e26d8768098f https://nnp.ima-press.net/nnp/article/view/649 https://doaj.org/toc/2074-2711 https://doaj.org/toc/2310-1342
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A clinical case of adult onset Niemann–Pick disease type C

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