Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant

被引：0

作者：

Austin, Stephanie ^{[1
]}

Rairikar, Mugdha ^{[1
]}

Case, Laura ^{[1
]}

Bailey, Lauren ^{[1
]}

Kazi, Zoheb ^{[1
]}

Desai, Ankit ^{[1
]}

Berrier, Kathryn ^{[1
]}

Coats, Julie ^{[1
]}

Gandy, Rachel ^{[1
]}

Quinones, Rebecca ^{[1
]}

Kishnani, Priya ^{[1
]}

机构：

[1] Duke Univ, Med Ctr, Durham, NC USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2018年 / 123卷 / 02期

关键词：

D O I：

10.1016/j.ymgme.2017.12.027

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：S21 / S21

页数：1

共 27 条

[21] Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum
Musumeci, Olimpia
Thieme, Andrea
Claeys, Kristl G.
Wenninger, Stephan
Kley, Rudolf A.
Kuhn, Marius
Lukacs, Zoltan
Deschauer, Marcus
Gaeta, Michele
Toscano, Antonio
Glaser, Dieter
Schoser, Benedikt
NEUROMUSCULAR DISORDERS, 2015, 25 (09) : 719 - 724
[22] Novel GAA sequence variant c.1211 A > G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease
Nilsson, M. I.
Kroos, M. A.
Reuser, A. J.
Hatcher, E.
Akhtar, M.
McCready, M. E.
Tarnopolsky, M. A.
GENE, 2014, 537 (01) : 41 - 45
[23] The novel GAA variant p.R190G: expanding the spectrum of late onset Pompe disease and possible implications for screening in the Chinese population.
Jiao, K.
Jacobs, E.
Yue, D.
Boonman, J.
Zhao, C.
Pijnappel, W.
Zhu, W.
NEUROMUSCULAR DISORDERS, 2024, 43
[24] Detection of c.-32T>G (IVS1-13T>G) mutation of Pompe disease by real-time PCR in dried blood spot specimen
Bobillo Lobato, Joaquin
Sanchez Peral, Blas A.
Duran Parejo, Pilar
Jimenez Jimenez, Luis M.
CLINICA CHIMICA ACTA, 2013, 418 : 107 - 108
[25] Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia
Silvestri, Gabriella
Masciullo, Marcella
Piane, Maria
Savio, Camilla
Modoni, Anna
Santoro, Massimo
Chessa, Luciana
JOURNAL OF NEUROLOGY, 2010, 257 (10) : 1738 - 1740
[26] Antisense oligonucleotides promote exon inclusion and correct the common c.-32-13T > G (IVS1) GAA splicing variant in iPS-derived skeletal muscle cells from Pompe patients
Pijnappel, W.
van der Wal, E.
Bergsma, A.
van Gestel, T.
Pijnenburg, J.
't Groen, S. In
Zaehres, H.
Arauzo-Bravo, M.
Schoeler, H.
van der Ploeg, A.
NEUROMUSCULAR DISORDERS, 2017, 27 : S161 - S161
[27] A family with multiple members affected by late-onset Pompe disease due to the R224W(670C>T) mutation:: Potential candidates for enzyme replacement therapy?
Vondracek, P.
Hermanova, M.
Oslejskova, H.
Soukalova, J.
Gaillyova, R.
Malinova, V.
Poupetova, H.
Halley, D.
Van der Ploeg, A.
NEUROMUSCULAR DISORDERS, 2007, 17 (9-10) : 793 - 793

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Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T&gt;G "late-onset" GAA variant

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant