Genetics in Medicine Open (Jan 2023)

P235: Cerebellar ataxia with hypogonadism: Clinical clues to diagnosis adult PMM2-CDG patients

Charles Lourenco,
Amadeu Queiroz,
Regina Albuquerque,
Lilian Sansao,
Jacqueline Fonseca

Affiliations

Charles Lourenco: Faculty of Medicine of Sao Jose do Rio Preto (FAMERP), PERSONALIZED MEDICINE DLE-PARDINI
Amadeu Queiroz: Faculty of Medicine of Sao Jose do Rio Preto (FAMERP)
Regina Albuquerque: Faculty of Medicine of Sao Jose do Rio Preto (FAMERP)
Lilian Sansao: Faculty of Medicine of Sao Jose do Rio Preto (FAMERP)
Jacqueline Fonseca: PERSONALIZED MEDICINE DLE-PARDINI

Journal volume & issue: Vol. 1, no. 1
p. 100263

Abstract

No abstracts available.

Published in Genetics in Medicine Open

ISSN: 2949-7744 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Science: Biology (General): Genetics; Medicine
Website: https://www.sciencedirect.com/journal/genetics-in-medicine-open

About the journal