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

[1] Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G "late-onset" GAA variant
Rairikar, Mugdha V.
Case, Laura E.
Bailey, Lauren A.
Kazi, Zoheb B.
Desai, Ankit K.
Berrier, Kathryn L.
Coats, Julie
Gandy, Rachel
Quinones, Rebecca
Kishnani, Priya S.
MOLECULAR GENETICS AND METABOLISM, 2017, 122 (03) : 99 - 107
[2] Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening
Herbert, Mrudu
Cope, Heidi
Li, Jennifer S.
Kishnani, Priya S.
JOURNAL OF PEDIATRICS, 2018, 198 : 308 - 312
[3] Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease
van der Wal, Erik
Bergsma, Atze J.
Pijnenburg, Joon M.
van der Ploeg, Ans T.
Pijnappel, W. W. M. Pim
MOLECULAR THERAPY-NUCLEIC ACIDS, 2017, 7 : 90 - 100
[4] Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts
Buratti, Emanuele
Peruzzo, Paolo
Braga, Luca
Zanin, Irene
Stuani, Cristiana
Goina, Elisa
Romano, Maurizio
Giacca, Mauro
Dardis, Andrea
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT, 2021, 20 : 227 - 236
[5] A newborn screening dilemma: when to treat Pompe disease with c.-32-13T>G IVS splice site mutation
Bailey, Lauren A.
Rairikar, Mugdha
Desai, Ankit
Kazi, Zoheb
Case, Laura
Kishnani, Priya
MOLECULAR GENETICS AND METABOLISM, 2017, 120 (1-2) : S24 - S24
[6] Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening
Jackson, David G.
Case, Laura E.
Huggins, Erin
Holland, Maggie
Blount, Janet
Webb, Lisa Hobson
Kishnani, Priya S.
MOLECULAR GENETICS AND METABOLISM REPORTS, 2023, 36
[7] MUSCLE ULTRASOUND IN PATIENTS WITH LATE-ONSET POMPE DISEASE IDENTIFIED BY NEWBORN SCREENING
Jackson, David
Kishnani, Priya
MOLECULAR GENETICS AND METABOLISM, 2023, 138 (03) : 56 - 56
[8] Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents
Dardis, Andrea
Zanin, Irene
Zampieri, Stefania
Stuani, Cristiana
Pianta, Annalisa
Romanello, Milena
Baralle, Francisco E.
Bembi, Bruno
Buratti, Emanuele
NUCLEIC ACIDS RESEARCH, 2014, 42 (02) : 1291 - 1302
[9] Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities
van der Beek, N. A. M. E.
Soliman, O. I. I.
van Capelle, C. I.
Geleijnse, M. L.
Vletter, W. B.
Kroos, M. A.
Reuser, A. J. J.
Frohn-Mulder, I. M. E.
van Doorn, P. A.
van der Ploeg, A. T.
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2008, 275 (1-2) : 46 - 50
[10] Challenges in management of late-onset Pompe disease (LOPD) identified through Indiana newborn screening
McPheron, Molly
Sapp, Katie
MOLECULAR GENETICS AND METABOLISM, 2024, 141 (02)

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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