O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiency

Saved in:
Bibliographic Details
Main Authors: Charles Venditti, Jennifer Sloan, Wadih Zein, Audrey Thurm, Camryn Hall, Carol Van Ryzin, Susan Ferry, Abigael Gebremariam, Jennifer Myles, Laryssa Huryn, Brian Brooks, Irini Manoli
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425000056
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1849711806938873856
author Charles Venditti
Jennifer Sloan
Wadih Zein
Audrey Thurm
Camryn Hall
Carol Van Ryzin
Susan Ferry
Abigael Gebremariam
Jennifer Myles
Laryssa Huryn
Brian Brooks
Irini Manoli
author_facet Charles Venditti
Jennifer Sloan
Wadih Zein
Audrey Thurm
Camryn Hall
Carol Van Ryzin
Susan Ferry
Abigael Gebremariam
Jennifer Myles
Laryssa Huryn
Brian Brooks
Irini Manoli
author_sort Charles Venditti
collection DOAJ
format Article
id doaj-art-ee104f4e70c24141b4c5349fd0a54c3f
institution DOAJ
issn 2949-7744
language English
publishDate 2025-01-01
publisher Elsevier
record_format Article
series Genetics in Medicine Open
spelling doaj-art-ee104f4e70c24141b4c5349fd0a54c3f2025-08-20T03:14:31ZengElsevierGenetics in Medicine Open2949-77442025-01-01310196610.1016/j.gimo.2025.101966O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiencyCharles Venditti0Jennifer Sloan1Wadih Zein2Audrey Thurm3Camryn Hall4Carol Van Ryzin5Susan Ferry6Abigael Gebremariam7Jennifer Myles8Laryssa Huryn9Brian Brooks10Irini Manoli11National Human Genome Research InstituteNational Human Genome Research InstituteNational Eye InstituteNational Institute of Mental HealthNational Human Genome Research InstituteNational Human Genome Research InstituteNational Human Genome Research InstituteNational Human Genome Research InstituteNational Human Genome Research InstituteNational Eye InstituteNational Eye InstituteNational Human Genome Research Institutehttp://www.sciencedirect.com/science/article/pii/S2949774425000056
spellingShingle Charles Venditti
Jennifer Sloan
Wadih Zein
Audrey Thurm
Camryn Hall
Carol Van Ryzin
Susan Ferry
Abigael Gebremariam
Jennifer Myles
Laryssa Huryn
Brian Brooks
Irini Manoli
O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiency
Genetics in Medicine Open
title O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiency
title_full O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiency
title_fullStr O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiency
title_full_unstemmed O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiency
title_short O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiency
title_sort o03 hydroxocobalamin ohcbl dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in cblc deficiency
url http://www.sciencedirect.com/science/article/pii/S2949774425000056
work_keys_str_mv AT charlesvenditti o03hydroxocobalaminohcbldoseintensificationcanpreventvisualdeteriorationandimproveneurologicalandbiochemicaloutcomesincblcdeficiency
AT jennifersloan o03hydroxocobalaminohcbldoseintensificationcanpreventvisualdeteriorationandimproveneurologicalandbiochemicaloutcomesincblcdeficiency
AT wadihzein o03hydroxocobalaminohcbldoseintensificationcanpreventvisualdeteriorationandimproveneurologicalandbiochemicaloutcomesincblcdeficiency
AT audreythurm o03hydroxocobalaminohcbldoseintensificationcanpreventvisualdeteriorationandimproveneurologicalandbiochemicaloutcomesincblcdeficiency
AT camrynhall o03hydroxocobalaminohcbldoseintensificationcanpreventvisualdeteriorationandimproveneurologicalandbiochemicaloutcomesincblcdeficiency
AT carolvanryzin o03hydroxocobalaminohcbldoseintensificationcanpreventvisualdeteriorationandimproveneurologicalandbiochemicaloutcomesincblcdeficiency
AT susanferry o03hydroxocobalaminohcbldoseintensificationcanpreventvisualdeteriorationandimproveneurologicalandbiochemicaloutcomesincblcdeficiency
AT abigaelgebremariam o03hydroxocobalaminohcbldoseintensificationcanpreventvisualdeteriorationandimproveneurologicalandbiochemicaloutcomesincblcdeficiency
AT jennifermyles o03hydroxocobalaminohcbldoseintensificationcanpreventvisualdeteriorationandimproveneurologicalandbiochemicaloutcomesincblcdeficiency
AT laryssahuryn o03hydroxocobalaminohcbldoseintensificationcanpreventvisualdeteriorationandimproveneurologicalandbiochemicaloutcomesincblcdeficiency
AT brianbrooks o03hydroxocobalaminohcbldoseintensificationcanpreventvisualdeteriorationandimproveneurologicalandbiochemicaloutcomesincblcdeficiency
AT irinimanoli o03hydroxocobalaminohcbldoseintensificationcanpreventvisualdeteriorationandimproveneurologicalandbiochemicaloutcomesincblcdeficiency