Publications:

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Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients.

Cells

Claeys, Kristl G KG; D'Hondt, Ann A; Fache, Lucas L; Peers, Koen K; Depuydt, Christophe E CE

Publication Date: 2022-01-20

Variant appearance in text: GAA: 923A>C

PubMed Link: 35159144

Variant Present in the following documents:

• Main text

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Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients.

Cells

Claeys, Kristl G KG; D'Hondt, Ann A; Fache, Lucas L; Peers, Koen K; Depuydt, Christophe E CE

Publication Date: 2022-01-20

Variant appearance in text: GAA: 923A>C

PubMed Link: 35159144

Variant Present in the following documents:

• Main text

View BVdb publication page

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Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.

Orphanet Journal Of Rare Diseases

van Kooten, Harmke A HA; Ditters, Imke A M IAM; Hoogeveen-Westerveld, Marianne M; Jacobs, Edwin H EH; van den Hout, Johanna M P JMP; van Doorn, Pieter A PA; Pijnappel, W W M Pim WWMP; van der Ploeg, Ans T AT; van der Beek, Nadine A M E NAME

Publication Date: 2022-02-02

Variant appearance in text: GAA: 923A>C

PubMed Link: 35109913

Variant Present in the following documents:

• 13023_2022_Article_2175.pdf

View BVdb publication page

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Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.

Orphanet Journal Of Rare Diseases

van Kooten, Harmke A HA; Ditters, Imke A M IAM; Hoogeveen-Westerveld, Marianne M; Jacobs, Edwin H EH; van den Hout, Johanna M P JMP; van Doorn, Pieter A PA; Pijnappel, W W M Pim WWMP; van der Ploeg, Ans T AT; van der Beek, Nadine A M E NAME

Publication Date: 2022-02-02

Variant appearance in text: GAA: 923A>C

PubMed Link: 35109913

Variant Present in the following documents:

• 13023_2022_Article_2175.pdf

View BVdb publication page

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Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.

Orphanet Journal Of Rare Diseases

Vanherpe, P P; Fieuws, S S; D'Hondt, A A; Bleyenheuft, C C; Demaerel, P P; De Bleecker, J J; Van den Bergh, P P; Baets, J J; Remiche, G G; Verhoeven, K K; Delstanche, S S; Toussaint, M M; Buyse, B B; Van Damme, P P; Depuydt, C E CE; Claeys, K G KG

Publication Date: 2020-04-05

Variant appearance in text: GAA: 923A>C

PubMed Link: 32248831

Variant Present in the following documents:

• 13023_2020_Article_1353.pdf

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Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.

Pediatric Pulmonology

ElMallah, Mai K MK; Desai, Ankit K AK; Nading, Erica B EB; DeArmey, Stephanie S; Kravitz, Richard M RM; Kishnani, Priya S PS

Publication Date: 2020-03

Variant appearance in text: GAA: 923A>C

PubMed Link: 31899940

Variant Present in the following documents:

• Main text

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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation

Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,

Publication Date: 2019-11

Variant appearance in text: GAA: 923A>C; His308Pro

PubMed Link: 31342611

Variant Present in the following documents:

• HUMU-40-2146-s001.pdf

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Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports

Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X

Publication Date: 2019-07-02

Variant appearance in text: GAA: H308P

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.

Molecular Genetics And Metabolism Reports

Desai, Ankit K AK; Kazi, Zoheb B ZB; Bali, Deeksha S DS; Kishnani, Priya S PS

Publication Date: 2019-09

Variant appearance in text: GAA: 923A>C; His308Pro

PubMed Link: 31193175

Variant Present in the following documents:

• Main text
• main.pdf

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Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease.

Molecular Therapy. Nucleic Acids

van der Wal, Erik E; Bergsma, Atze J AJ; Pijnenburg, Joon M JM; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP

Publication Date: 2017-06-16

Variant appearance in text: GAA: 923A>C

PubMed Link: 28624228

Variant Present in the following documents:

• Main text

View BVdb publication page

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GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells.

Molecular Therapy. Nucleic Acids

van der Wal, Erik E; Bergsma, Atze J AJ; van Gestel, Tom J M TJM; In 't Groen, Stijn L M SLM; Zaehres, Holm H; Araúzo-Bravo, Marcos J MJ; Schöler, Hans R HR; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP

Publication Date: 2017-06-16

Variant appearance in text: GAA: 923A>C

PubMed Link: 28624186

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

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Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

Orphanet Journal Of Rare Diseases

van Capelle, C I CI; van der Meijden, J C JC; van den Hout, J M P JM; Jaeken, J J; Baethmann, M M; Voit, T T; Kroos, M A MA; Derks, T G J TG; Rubio-Gozalbo, M E ME; Willemsen, M A MA; Lachmann, R H RH; Mengel, E E; Michelakakis, H H; de Jongste, J C JC; Reuser, A J J AJ; van der Ploeg, A T AT

Publication Date: 2016-05-18

Variant appearance in text: GAA: 923A>C

PubMed Link: 27189384

Variant Present in the following documents:

• Main text
• 13023_2016_Article_442.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GAA: H308P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Bali, Deeksha S DS; Goldstein, Jennifer L JL; Banugaria, Suhrad S; Dai, Jian J; Mackey, Joanne J; Rehder, Catherine C; Kishnani, Priya S PS

Publication Date: 2012-02-15

Variant appearance in text: GAA: His308Pro

PubMed Link: 22252923

Variant Present in the following documents:

• Main text

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