Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
2045-2322
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG) ; volume:12 ; number:1 ; day:12 ; month:10 ; year:2022 ; pages:1-11 ; date:12.2022
Scientific reports ; 12, Heft 1 (12.10.2022), 1-11, 12.2022
- Creator
-
Masunaga, Yohei
Nishimura, Gen
Takahashi, Koji
Hishiyama, Tomiyuki
Imamura, Masatoshi
Kashimada, Kenichi
Kadoya, Machiko
Wada, Yoshinao
Okamoto, Nobuhiko
Oba, Daiju
Ohashi, Hirofumi
Ikeno, Mitsuru
Sakamoto, Yuko
Fukami, Maki
Saitsu, Hirotomo
Ogata, Tsutomu
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1038/s41598-022-21751-x
- URN
-
urn:nbn:de:101:1-2022122921070630881236
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
- 15.08.2025, 7:37 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
- Masunaga, Yohei
- Nishimura, Gen
- Takahashi, Koji
- Hishiyama, Tomiyuki
- Imamura, Masatoshi
- Kashimada, Kenichi
- Kadoya, Machiko
- Wada, Yoshinao
- Okamoto, Nobuhiko
- Oba, Daiju
- Ohashi, Hirofumi
- Ikeno, Mitsuru
- Sakamoto, Yuko
- Fukami, Maki
- Saitsu, Hirotomo
- Ogata, Tsutomu
- SpringerLink (Online service)
Other Objects (12)
Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives
Congenital disorders of glycosylation (CDG): state of the art in 2022
Verbesserte Diagnostik des CDG (congenital disorders of glycosylation) durch Untersuchung mehrerer Glykoproteine
Congenital Disorders of Glycosylation (CDG): A Rapidly Expanding Group of Neurometabolic Disorders
Congenital disorder of glycosylation Ib (CDG-Ib) : Charakterisierung und vergleichende Analyse mit CDG-Ia und sekundären Störungen der Glykosylierung
Congenital disorder of glycosylation Ib (CDG-Ib) : Charakterisierung und vergleichende Analyse mit CDG-Ia und sekundären Störungen der Glykosylierung
Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG)
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community
The efficacy of high pressure liquid chromatography (HPLC) in detecting congenital glycosylation disorders (CDG)
Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG)
Congenital disorder of glycosylation (CDG)-IIc : eine retrovirale Expressionsklonierung identifiziert das CDG-IIc-Syndrom (Leukozyten-Adhäsionsdefekt II) als eine GDP-Fukose-Transporter-Defizienz
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG)
Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives
Congenital disorders of glycosylation (CDG): state of the art in 2022
Verbesserte Diagnostik des CDG (congenital disorders of glycosylation) durch Untersuchung mehrerer Glykoproteine
Congenital Disorders of Glycosylation (CDG): A Rapidly Expanding Group of Neurometabolic Disorders
Congenital disorder of glycosylation Ib (CDG-Ib) : Charakterisierung und vergleichende Analyse mit CDG-Ia und sekundären Störungen der Glykosylierung
Congenital disorder of glycosylation Ib (CDG-Ib) : Charakterisierung und vergleichende Analyse mit CDG-Ia und sekundären Störungen der Glykosylierung
Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG)
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community
The efficacy of high pressure liquid chromatography (HPLC) in detecting congenital glycosylation disorders (CDG)
Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG)
Congenital disorder of glycosylation (CDG)-IIc : eine retrovirale Expressionsklonierung identifiziert das CDG-IIc-Syndrom (Leukozyten-Adhäsionsdefekt II) als eine GDP-Fukose-Transporter-Defizienz
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG)
Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives
Congenital disorders of glycosylation (CDG): state of the art in 2022
Verbesserte Diagnostik des CDG (congenital disorders of glycosylation) durch Untersuchung mehrerer Glykoproteine
Congenital Disorders of Glycosylation (CDG): A Rapidly Expanding Group of Neurometabolic Disorders
Congenital disorder of glycosylation Ib (CDG-Ib) : Charakterisierung und vergleichende Analyse mit CDG-Ia und sekundären Störungen der Glykosylierung
Congenital disorder of glycosylation Ib (CDG-Ib) : Charakterisierung und vergleichende Analyse mit CDG-Ia und sekundären Störungen der Glykosylierung
Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG)
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community
The efficacy of high pressure liquid chromatography (HPLC) in detecting congenital glycosylation disorders (CDG)
Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG)
Congenital disorder of glycosylation (CDG)-IIc : eine retrovirale Expressionsklonierung identifiziert das CDG-IIc-Syndrom (Leukozyten-Adhäsionsdefekt II) als eine GDP-Fukose-Transporter-Defizienz