Genetic characterization of the Albanian Gaucher disease patient population.
Albanian population
Balkan region
GBA
Gaucher disease
Lyso‐Gb1
genotype‐phenotype correlation
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:
15
05
2020
revised:
24
08
2020
accepted:
26
08
2020
entrez:
21
1
2021
pubmed:
22
1
2021
medline:
22
1
2021
Statut:
epublish
Résumé
Gaucher disease (GD) is a recessive metabolic disorder caused by a deficiency of the
Identifiants
pubmed: 33473340
doi: 10.1002/jmd2.12167
pii: JMD212167
pmc: PMC7802630
doi:
Types de publication
Journal Article
Langues
eng
Pagination
52-57Informations de copyright
© 2020 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
Paskal Cullufi, Mirela Tabaku, Virtut Velmishi, Agim Gjikopulli, Sonila Tomori, Ermira Dervishi, Aferdita Tako, Anika Leubauer, and Stefan Wirth,4 declare that they have no conflict of interest. Ana Westenberger is a contract worker for CENTOGENE GmbH; Claudia Cozma, Christian Beetz, Peter Bauer, and Arndt Rolfs are employees of CENTOGENE GmbH.
Références
Am J Med Genet A. 2005 Apr 1;134A(1):95-6
pubmed: 15690354
Arch Intern Med. 2000 Oct 9;160(18):2835-43
pubmed: 11025794
Hum Mutat. 2008 Jun;29(6):E58-67
pubmed: 18429048
Hum Mutat. 2016 Jun;37(6):564-9
pubmed: 26931183
Mol Genet Metab. 2005 Dec;86(4):466-72
pubmed: 16185907
Int J Mol Sci. 2017 Feb 17;18(2):
pubmed: 28218669
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
JIMD Rep. 2012;6:117-25
pubmed: 23430949
JAMA Pediatr. 2018 Jul 1;172(7):696-697
pubmed: 29813145
Eur J Neurol. 2013 Feb;20(2):402-5
pubmed: 22812582
PLoS One. 2013 Nov 20;8(11):e79732
pubmed: 24278166
Eur J Med Genet. 2008 Jul-Aug;51(4):315-21
pubmed: 18586596
Hum Mutat. 2003 Jun;21(6):577-81
pubmed: 12754702
Am J Hematol. 2018 Jun;93(6):E140-E142
pubmed: 29473199
Nat Protoc. 2009;4(7):1073-81
pubmed: 19561590
Am J Hematol. 2011 Jan;86(1):110-5
pubmed: 21080341
Iran J Pediatr. 2011 Mar;21(1):1-7
pubmed: 23056756
J Inherit Metab Dis. 2020 May;43(3):558-563
pubmed: 31707742
Am J Hum Genet. 2000 Jun;66(6):1777-86
pubmed: 10796875
J Pediatr. 2003 Aug;143(2):273-6
pubmed: 12970647
Blood Cells Mol Dis. 2001 Sep-Oct;27(5):882-91
pubmed: 11783951
Mol Genet Metab Rep. 2019 Oct 26;21:100532
pubmed: 31709146
J Genet. 2017 Sep;96(4):583-589
pubmed: 28947706
J Inherit Metab Dis. 2006 Aug;29(4):591
pubmed: 16830265
BMC Med Genet. 2018 Oct 1;19(1):178
pubmed: 30285649
Int J Mol Sci. 2020 Jun 27;21(13):
pubmed: 32605119
Hum Mol Genet. 1993 Sep;2(9):1497-8
pubmed: 7694727
Nucleic Acids Res. 2019 Jan 8;47(D1):D886-D894
pubmed: 30371827
Curr Protoc Hum Genet. 2013 Jan;Chapter 7:Unit7.20
pubmed: 23315928
Hum Mutat. 2008 May;29(5):567-83
pubmed: 18338393