Work

A Rare Case: NGLY1 Deficiency and Diaphragmatic Eventration

Year: 2025

Type: article

Source: Turkish Archives of Pediatrics

DOI: 10.5152/turkarchpediatr.2025.25234

Authors: Ayşe Büşra Pekal, Rümeysa Şevik, Beste Kipçak Yüzbaşı, Olcay Güngör, Kadri Karaer

Institutions: Pediatric Neurology Briefs, Pamukkale University, University of Belgrade

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4416723391

FWCI: 0.39

Cites:

Cited by: 1

Related to: 10