Work

OP9 – 2583: Phosphomanomutase deficiency (PMM2-CDG): Assessment of cerebellar dysfunction through ICARS

Year: 2015

Type: article

Study design: Observational Study

Source: European Journal of Paediatric Neurology

DOI: 10.1016/s1090-3798(15)30010-6

Authors: V. De Diego, M. Serrano, J. Muchart, A. Felipe, A. Macaya, R. Velázquez, P. Póo, C. Fons, M. O'Callaghan, A. García-Cazorla, C. Boix, B. Robles, F. Carratalá, M. Girós, R. Artuch, C. Pérez-Cerdá, B. Pérez, B. Pérez-Dueñas

Institution: Hospital Sant Joan de Déu Barcelona

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W923540591

FWCI:

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