Work

Clinical, Biochemical and Molecular Findings of Two PMM2-CDG Cases from India

Year: 2025

Type: article

Study design: Case Report

Source: Indian Journal of Clinical Biochemistry

DOI: 10.1007/s12291-025-01298-0

Authors: Mihika Dave, Naresh Tayade, Lokesh Lingappa, Sarah Bailur, Tester Ashavaid, Alpa Dherai

Institutions: P. D. Hinduja Hospital and Medical Research Centre, Dr. Panjabrao Deshmukh Memorial Medical College, Rainbow Children's Hospital

Language: English

Topic: Glycogen Storage Diseases and Myoclonus

Subfield: Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4407635331

FWCI:

Cites: 10

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Related to: 9