P024: Role of muscle biopsy and exome re-analysis in a mystery case of lactic acidosis

Bibliographic Details
Main Authors: Elizabeth Pickup, Kuntal Sen, Steven Moore, Pim Suwannarat, Christina Grant, Nicholas Ah Mew, Andrea Gropman
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424000475
_version_ 1797267575538712576
author Elizabeth Pickup
Kuntal Sen
Steven Moore
Pim Suwannarat
Christina Grant
Nicholas Ah Mew
Andrea Gropman
author_facet Elizabeth Pickup
Kuntal Sen
Steven Moore
Pim Suwannarat
Christina Grant
Nicholas Ah Mew
Andrea Gropman
author_sort Elizabeth Pickup
collection DOAJ
first_indexed 2024-04-25T01:18:46Z
format Article
id doaj.art-0ca6d180434d4315b0e83ae956ece33d
institution Directory Open Access Journal
issn 2949-7744
language English
last_indexed 2024-04-25T01:18:46Z
publishDate 2024-01-01
publisher Elsevier
record_format Article
series Genetics in Medicine Open
spelling doaj.art-0ca6d180434d4315b0e83ae956ece33d2024-03-09T09:30:03ZengElsevierGenetics in Medicine Open2949-77442024-01-012100901P024: Role of muscle biopsy and exome re-analysis in a mystery case of lactic acidosisElizabeth Pickup0Kuntal Sen1Steven Moore2Pim Suwannarat3Christina Grant4Nicholas Ah Mew5Andrea Gropman6Children's National HospitalChildren's National HospitalUniversity of IowaKaiser PermanenteChildren's National HospitalChildren's National HospitalChildren's National Hospitalhttp://www.sciencedirect.com/science/article/pii/S2949774424000475
spellingShingle Elizabeth Pickup
Kuntal Sen
Steven Moore
Pim Suwannarat
Christina Grant
Nicholas Ah Mew
Andrea Gropman
P024: Role of muscle biopsy and exome re-analysis in a mystery case of lactic acidosis
Genetics in Medicine Open
title P024: Role of muscle biopsy and exome re-analysis in a mystery case of lactic acidosis
title_full P024: Role of muscle biopsy and exome re-analysis in a mystery case of lactic acidosis
title_fullStr P024: Role of muscle biopsy and exome re-analysis in a mystery case of lactic acidosis
title_full_unstemmed P024: Role of muscle biopsy and exome re-analysis in a mystery case of lactic acidosis
title_short P024: Role of muscle biopsy and exome re-analysis in a mystery case of lactic acidosis
title_sort p024 role of muscle biopsy and exome re analysis in a mystery case of lactic acidosis
url http://www.sciencedirect.com/science/article/pii/S2949774424000475
work_keys_str_mv AT elizabethpickup p024roleofmusclebiopsyandexomereanalysisinamysterycaseoflacticacidosis
AT kuntalsen p024roleofmusclebiopsyandexomereanalysisinamysterycaseoflacticacidosis
AT stevenmoore p024roleofmusclebiopsyandexomereanalysisinamysterycaseoflacticacidosis
AT pimsuwannarat p024roleofmusclebiopsyandexomereanalysisinamysterycaseoflacticacidosis
AT christinagrant p024roleofmusclebiopsyandexomereanalysisinamysterycaseoflacticacidosis
AT nicholasahmew p024roleofmusclebiopsyandexomereanalysisinamysterycaseoflacticacidosis
AT andreagropman p024roleofmusclebiopsyandexomereanalysisinamysterycaseoflacticacidosis