Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy.
PGM1‐CDG
galactose
restrictive cardiomyopathy
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Jan 2021
Jan 2021
Historique:
received:
03
08
2020
revised:
11
10
2020
accepted:
13
10
2020
entrez:
21
1
2021
pubmed:
22
1
2021
medline:
22
1
2021
Statut:
epublish
Résumé
We report a patient diagnosed with PGM1-CDG at 11 years of age after two biallelic likely pathogenic variants in
Identifiants
pubmed: 33473337
doi: 10.1002/jmd2.12177
pii: JMD212177
pmc: PMC7802629
doi:
Types de publication
Case Reports
Langues
eng
Pagination
29-37Informations de copyright
© 2020 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
Sarah Donoghue, Susan White, Tiong Tan, Remi Kowalski, Eva Morava and Joy Yaplito‐Lee declare that they have no conflict of interest.
Références
Neuro Endocrinol Lett. 2014;35(2):137-41
pubmed: 24878975
Mol Genet Metab. 2018 Nov;125(3):200-204
pubmed: 30262252
N Engl J Med. 2009 Jul 23;361(4):425-7
pubmed: 19625727
Mol Genet Metab. 2014 Aug;112(4):275-9
pubmed: 24997537
Neuromuscul Disord. 2017 Apr;27(4):370-376
pubmed: 28190645
Mol Genet Metab Rep. 2017 Jul 31;13:33-40
pubmed: 28794993
N Engl J Med. 2014 Feb 6;370(6):533-42
pubmed: 24499211
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
J Neurol Neurosurg Psychiatry. 1963 Feb;26:60-8
pubmed: 13981250
Forensic Sci Int Genet. 2019 Nov;43:102111
pubmed: 31563034
Acta Clin Belg. 2016 Dec;71(6):435-437
pubmed: 27351072
Genet Med. 2017 Nov;19(11):1226-1235
pubmed: 28617415
J Pediatr. 2016 Aug;175:130-136.e8
pubmed: 27206562
Hum Mol Genet. 2012 Oct 1;21(19):4151-61
pubmed: 22492991
Am J Med Genet A. 2015 Dec;167A(12):3139-43
pubmed: 26768186
Am J Hum Genet. 2017 Dec 7;101(6):985-994
pubmed: 29198724