Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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2731-085X
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
-
Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives ; volume:1 ; number:1 ; day:7 ; month:12 ; year:2022 ; pages:1-19 ; date:12.2022
Journal of rare diseases ; 1, Heft 1 (7.12.2022), 1-19, 12.2022
- Creator
-
Piedade, Ana
Francisco, Rita
Jaeken, Jaak
Sarkhail, Peymaneh
Brasil, Sandra
Ferreira, Carlos R.
Rijoff, Tatiana
Pascoal, Carlota
Gil, Alexandre
Lourenço, Ana Beatriz
Abreu, Marta
Gomes, Mafalda
Videira, Paula A.
Reis Ferreira, Vanessa dos
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1007/s44162-022-00003-6
- URN
-
urn:nbn:de:101:1-2023021621110763299652
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:49 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
- Piedade, Ana
- Francisco, Rita
- Jaeken, Jaak
- Sarkhail, Peymaneh
- Brasil, Sandra
- Ferreira, Carlos R.
- Rijoff, Tatiana
- Pascoal, Carlota
- Gil, Alexandre
- Lourenço, Ana Beatriz
- Abreu, Marta
- Gomes, Mafalda
- Videira, Paula A.
- Reis Ferreira, Vanessa dos
- SpringerLink (Online service)
Other Objects (12)
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)
Biallelische Varianten in GZF1 und VPS45 verbinden das Larsen-Syndrom mit den `Congenital Disorders of Glycosylation´ (CDG)
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)
Biallelische Varianten in GZF1 und VPS45 verbinden das Larsen-Syndrom mit den `Congenital Disorders of Glycosylation´ (CDG)
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)