Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

Location
Deutsche Nationalbibliothek Frankfurt am Main
Extent
1 Online-Ressource.
Language
Englisch

Bibliographic citation
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families ; volume:18 ; number:1 ; day:3 ; month:11 ; year:2023 ; pages:1-10 ; date:12.2023
Orphanet journal of rare diseases ; 18, Heft 1 (3.11.2023), 1-10, 12.2023

Creator
Al Busaidi, Marwa
Mohamed, Feda E.
Al-Ajmi, Eiman
Al Hashmi, Nadia
Al-Thihli, Khalid
Al Futaisi, Amna
Al Mamari, Watfa
Al-Murshedi, Fathiya
Al-Jasmi, Fatma
Contributor
SpringerLink (Online service)

DOI
10.1186/s13023-023-02946-5
URN
urn:nbn:de:101:1-2024012212012633962890
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
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.

Associated

  • Al Busaidi, Marwa
  • Mohamed, Feda E.
  • Al-Ajmi, Eiman
  • Al Hashmi, Nadia
  • Al-Thihli, Khalid
  • Al Futaisi, Amna
  • Al Mamari, Watfa
  • Al-Murshedi, Fathiya
  • Al-Jasmi, Fatma
  • SpringerLink (Online service)

Other Objects (12)