Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-2350
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients ; volume:20 ; number:1 ; day:11 ; month:7 ; year:2019 ; pages:1-8 ; date:12.2019
BMC medical genetics ; 20, Heft 1 (11.7.2019), 1-8, 12.2019
- Creator
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Degtyareva, Anna V.
Proshlyakova, Tatiana Y.
Gautier, Marina S.
Degtyarev, Dmitry N.
Kamenets, Elena A.
Baydakova, Galina V.
Rebrikov, Denis V.
Zakharova, Ekaterina Y.
- Contributor
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SpringerLink (Online service)
- DOI
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10.1186/s12881-019-0857-0
- URN
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urn:nbn:de:101:1-2019111411300922112385
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:35 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Degtyareva, Anna V.
- Proshlyakova, Tatiana Y.
- Gautier, Marina S.
- Degtyarev, Dmitry N.
- Kamenets, Elena A.
- Baydakova, Galina V.
- Rebrikov, Denis V.
- Zakharova, Ekaterina Y.
- SpringerLink (Online service)
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Addressing diagnostic challenges in Niemann-Pick disease type C
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Treatment trials in Niemann-Pick type C disease
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
Addressing diagnostic challenges in Niemann-Pick disease type C
Retinal axonal degeneration in Niemann–Pick type C disease
Untersuchungen zu pathophysiologischen Merkmalen des Morbus Niemann-Pick Typ C1
Swallowing characterization of adult-onset Niemann-Pick, type C1 patients
Charakterisierung der Lungenerkrankung bei Morbus Niemann-Pick Typ B Patienten
Photomyogenic response in Niemann–Pick type C: a case report
Miglustat in Niemann-Pick disease type C patients: a review
Morbus Niemann-Pick
Niemann-Pick disease
Niemann-Pick disease type C
Treatment trials in Niemann-Pick type C disease
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
Addressing diagnostic challenges in Niemann-Pick disease type C
Retinal axonal degeneration in Niemann–Pick type C disease
Untersuchungen zu pathophysiologischen Merkmalen des Morbus Niemann-Pick Typ C1
Swallowing characterization of adult-onset Niemann-Pick, type C1 patients
Charakterisierung der Lungenerkrankung bei Morbus Niemann-Pick Typ B Patienten
Photomyogenic response in Niemann–Pick type C: a case report