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

Bibliographic Details
Main Authors: Charles Lourenco, Amadeu Queiroz, Regina Albuquerque, Lilian Sansao, Jacqueline Fonseca
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423002637
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author Charles Lourenco
Amadeu Queiroz
Regina Albuquerque
Lilian Sansao
Jacqueline Fonseca
author_facet Charles Lourenco
Amadeu Queiroz
Regina Albuquerque
Lilian Sansao
Jacqueline Fonseca
author_sort Charles Lourenco
collection DOAJ
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spelling doaj.art-58754d38ecd54f5baa939c567b3c7b462024-01-27T07:06:24ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100263P235: Cerebellar ataxia with hypogonadism: Clinical clues to diagnosis adult PMM2-CDG patientsCharles Lourenco0Amadeu Queiroz1Regina Albuquerque2Lilian Sansao3Jacqueline Fonseca4Faculty of Medicine of Sao Jose do Rio Preto (FAMERP), PERSONALIZED MEDICINE DLE-PARDINIFaculty of Medicine of Sao Jose do Rio Preto (FAMERP)Faculty of Medicine of Sao Jose do Rio Preto (FAMERP)Faculty of Medicine of Sao Jose do Rio Preto (FAMERP)PERSONALIZED MEDICINE DLE-PARDINIhttp://www.sciencedirect.com/science/article/pii/S2949774423002637
spellingShingle Charles Lourenco
Amadeu Queiroz
Regina Albuquerque
Lilian Sansao
Jacqueline Fonseca
P235: Cerebellar ataxia with hypogonadism: Clinical clues to diagnosis adult PMM2-CDG patients
Genetics in Medicine Open
title P235: Cerebellar ataxia with hypogonadism: Clinical clues to diagnosis adult PMM2-CDG patients
title_full P235: Cerebellar ataxia with hypogonadism: Clinical clues to diagnosis adult PMM2-CDG patients
title_fullStr P235: Cerebellar ataxia with hypogonadism: Clinical clues to diagnosis adult PMM2-CDG patients
title_full_unstemmed P235: Cerebellar ataxia with hypogonadism: Clinical clues to diagnosis adult PMM2-CDG patients
title_short P235: Cerebellar ataxia with hypogonadism: Clinical clues to diagnosis adult PMM2-CDG patients
title_sort p235 cerebellar ataxia with hypogonadism clinical clues to diagnosis adult pmm2 cdg patients
url http://www.sciencedirect.com/science/article/pii/S2949774423002637
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