Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GAA: 1548G>A; Trp516Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study.

Neurology. Genetics

Wencel, Marie M; Shaibani, Aziz A; Goyal, Namita A NA; Dimachkie, Mazen M MM; Trivedi, Jaya J; Johnson, Nicholas E NE; Gutmann, Laurie L; Wicklund, Matthew P MP; Bandyopadhay, Sankar S; Genge, Angela L AL; Freimer, Miriam L ML; Goyal, Neelam N; Pestronk, Alan A; Florence, Julaine J; Karam, Chafic C; Ralph, Jeffrey W JW; Rasheed, Zinah Z; Hays, Melissa M; Hopkins, Steve S; Mozaffar, Tahseen T

Publication Date: 2021-12

Variant appearance in text: GAA: 1548G>A

PubMed Link: 36299500

Variant Present in the following documents:

• NG2021016977.pdf

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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

American Journal Of Human Genetics

Kingsmore, Stephen F SF; Smith, Laurie D LD; Kunard, Chris M CM; Bainbridge, Matthew M; Batalov, Sergey S; Benson, Wendy W; Blincow, Eric E; Caylor, Sara S; Chambers, Christina C; Del Angel, Guillermo G; Dimmock, David P DP; Ding, Yan Y; Ellsworth, Katarzyna K; Feigenbaum, Annette A; Frise, Erwin E; Green, Robert C RC; Guidugli, Lucia L; Hall, Kevin P KP; Hansen, Christian C; Hobbs, Charlotte A CA; Kahn, Scott D SD; Kiel, Mark M; Van Der Kraan, Lucita L; Krilow, Chad C; Kwon, Yong H YH; Madhavrao, Lakshminarasimha L; Le, Jennie J; Lefebvre, Sebastien S; Mardach, Rebecca R; Mowrey, William R WR; Oh, Danny D; Owen, Mallory J MJ; Powley, George G; Scharer, Gunter G; Shelnutt, Seth S; Tokita, Mari M; Mehtalia, Shyamal S SS; Oriol, Albert A; Papadopoulos, Stavros S; Perry, James J; Rosales, Edwin E; Sanford, Erica E; Schwartz, Steve S; Tran, Duke D; Reese, Martin G MG; Wright, Meredith M; Veeraraghavan, Narayanan N; Wigby, Kristen K; Willis, Mary J MJ; Wolen, Aaron R AR; Defay, Thomas T

Publication Date: 2022-09-01

Variant appearance in text: GAA: 1548G>A; Trp516Ter

PubMed Link: 36007526

Variant Present in the following documents:

• mmc2.xlsx, sheet 8

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: GAA: 1548G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 1548G>A

PubMed Link: 35159144

Variant Present in the following documents:

• Main text
• cells-11-00334.pdf

View BVdb publication page

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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: 1548G>A

PubMed Link: 35159144

Variant Present in the following documents:

• Main text
• cells-11-00334.pdf

View BVdb publication page

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Genomic characterization between strains selected for death-feigning duration for avoiding attack of a beetle.

Scientific Reports

Tanaka, Keisuke K; Sasaki, Ken K; Matsumura, Kentarou K; Yajima, Shunsuke S; Miyatake, Takahisa T

Publication Date: 2021-11-08

Variant appearance in text: GAA: 1548G>A

PubMed Link: 34750398

Variant Present in the following documents:

• 41598_2021_987_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: GAA: W516*

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM5_ESM.xlsx, sheet 1
• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Pharmaceuticals (Basel, Switzerland)

Michorowska, Sylwia S

Publication Date: 2021-08-09

Variant appearance in text: GAA: W516X

PubMed Link: 34451881

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00785.pdf

View BVdb publication page

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Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.

Metabolites

Saville, Jennifer T JT; Fuller, Maria M

Publication Date: 2021-07-08

Variant appearance in text: GAA: 1548G>A

PubMed Link: 34357340

Variant Present in the following documents:

• Main text
• metabolites-11-00446.pdf

View BVdb publication page

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Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Archives Of Disease In Childhood

Dai, Dan D; Mei, Mei M; Hu, Liyuan L; Cao, Yun Y; Wang, Xiaochuan X; Wang, Libo L; Lu, Yulan Y; Yang, Lin L; Dong, Xinran X; Wang, Huijun H; Wu, Bingbing B; Qian, Liling L

Publication Date: 2022-02

Variant appearance in text: GAA: W516X

PubMed Link: 34134972

Variant Present in the following documents:

• archdischild-2021-322058supp001.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: GAA: 1548G>A; Trp516Ter; rs140826989

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease-an MRI study.

Peerj

Vaeggemose, Michael M; Mencagli, Rosa Andersen RA; Hansen, Julie Schjødtz JS; Dräger, Bianca B; Ringgaard, Steffen S; Vissing, John J; Andersen, Henning H

Publication Date: 2021

Variant appearance in text: GAA: 1548G>A

PubMed Link: 33996274

Variant Present in the following documents:

• Main text
• peerj-09-10928.pdf

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Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.

Molecular Genetics And Metabolism Reports

Park, Kyung Sun KS

Publication Date: 2021-06

Variant appearance in text: GAA: 1548G>A; Trp516Ter

PubMed Link: 33717985

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Li, Cindy C; Desai, Ankit K AK; Gupta, Punita P; Dempsey, Katherine K; Bhambhani, Vikas V; Hopkin, Robert J RJ; Ficicioglu, Can C; Tanpaiboon, Pranoot P; Craigen, William J WJ; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2021-05

Variant appearance in text: GAA: 1548G>A

PubMed Link: 33495531

Variant Present in the following documents:

• Main text
• nihms-1680101.pdf

View BVdb publication page

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K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells

Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC

Publication Date: 2020-10-31

Variant appearance in text: GAA: 1548G>A

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

View BVdb publication page

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Lessons Learned from Pompe Disease Newborn Screening and Follow-up.

International Journal Of Neonatal Screening

Klug, Tracy L TL; Swartz, Lori B LB; Washburn, Jon J; Brannen, Candice C; Kiesling, Jami L JL

Publication Date: 2020-03

Variant appearance in text: GAA: 1548G>A

PubMed Link: 33073009

Variant Present in the following documents:

• Main text

View BVdb publication page

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The First Year Experience of Newborn Screening for Pompe Disease in California.

International Journal Of Neonatal Screening

Tang, Hao H; Feuchtbaum, Lisa L; Sciortino, Stanley S; Matteson, Jamie J; Mathur, Deepika D; Bishop, Tracey T; Olney, Richard S RS

Publication Date: 2020-03

Variant appearance in text: GAA: 1548G>A

PubMed Link: 33073007

Variant Present in the following documents:

• Main text
• IJNS-06-00009.pdf

View BVdb publication page

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Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort.

Frontiers In Immunology

Desai, Ankit K AK; Baloh, Carolyn H CH; Sleasman, John W JW; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2020

Variant appearance in text: GAA: 1548G>A

PubMed Link: 32849613

Variant Present in the following documents:

• Main text
• fimmu-11-01727.pdf

View BVdb publication page

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Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease.

Scientific Reports

Aung-Htut, May Thandar MT; Ham, Kristin A KA; Tchan, Michel M; Johnsen, Russell R; Schnell, Frederick J FJ; Fletcher, Sue S; Wilton, Steve D SD

Publication Date: 2020-04-21

Variant appearance in text: GAA: 1548G>A; Trp516X

PubMed Link: 32317649

Variant Present in the following documents:

• Main text

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: 1548G>A

PubMed Link: 32248831

Variant Present in the following documents:

• 13023_2020_Article_1353.pdf

View BVdb publication page

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Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review.

Annals Of Translational Medicine

Desai, Ankit K AK; Li, Cindy C; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2019-07

Variant appearance in text: GAA: 1548G>A

PubMed Link: 31392197

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1548G>A

PubMed Link: 31342611

Variant Present in the following documents:

• Main text
• HUMU-40-2146.pdf
• HUMU-40-2146-s001.pdf

View BVdb publication page

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Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Kishnani, Priya S PS; Gibson, James B JB; Gambello, Michael J MJ; Hillman, Richard R; Stockton, David W DW; Kronn, David D; Leslie, Nancy D ND; Pena, Loren D M LDM; Tanpaiboon, Pranoot P; Day, John W JW; Wang, Raymond Y RY; Goldstein, Jennifer L JL; An Haack, Kristina K; Sparks, Susan E SE; Zhao, Yang Y; Hahn, Si Houn SH; ,

Publication Date: 2019-11

Variant appearance in text: GAA: 1548G>A

PubMed Link: 31086307

Variant Present in the following documents:

• Main text
• 41436_2019_Article_527.pdf

View BVdb publication page

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A genetic modifier of symptom onset in Pompe disease.

Ebiomedicine

Bergsma, Atze J AJ; In 't Groen, Stijn L M SLM; van den Dorpel, Jan J A JJA; van den Hout, Hannerieke J M P HJMP; van der Beek, Nadine A M E NAME; Schoser, Benedikt B; Toscano, Antonio A; Musumeci, Olimpia O; Bembi, Bruno B; Dardis, Andrea A; Morrone, Amelia A; Tummolo, Albina A; Pasquini, Elisabetta E; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP

Publication Date: 2019-05

Variant appearance in text: GAA: 1548G>A

PubMed Link: 30922962

Variant Present in the following documents:

• Main text
• mmc1.pdf

View BVdb publication page

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Clinical potential of ataluren in the treatment of Duchenne muscular dystrophy.

Degenerative Neurological And Neuromuscular Disease

Namgoong, John Hyun JH; Bertoni, Carmen C

Publication Date: 2016

Variant appearance in text: GAA: W516*

PubMed Link: 30050367

Variant Present in the following documents:

• dnnd-6-037.pdf

View BVdb publication page

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Pompe disease in Austria: clinical, genetic and epidemiological aspects.

Journal Of Neurology

Löscher, W N WN; Huemer, M M; Stulnig, T M TM; Simschitz, P P; Iglseder, S S; Eggers, C C; Moser, H H; Möslinger, D D; Freilinger, M M; Lagler, F F; Grinzinger, S S; Reichhardt, M M; Bittner, R E RE; Schmidt, W M WM; Lex, U U; Brunner-Krainz, M M; Quasthoff, S S; Wanschitz, J V JV

Publication Date: 2018-01

Variant appearance in text: GAA: 1548G>A

PubMed Link: 29181627

Variant Present in the following documents:

• 415_2017_Article_8686.pdf

View BVdb publication page

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Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Molecular Genetics And Metabolism

Mori, Mari M; Haskell, Gloria G; Kazi, Zoheb Z; Zhu, Xiaolin X; DeArmey, Stephanie M SM; Goldstein, Jennifer L JL; Bali, Deeksha D; Rehder, Catherine C; Cirulli, Elizabeth T ET; Kishnani, Priya S PS

Publication Date: 2017-12

Variant appearance in text: GAA: 1548G>A; Trp516*

PubMed Link: 29122469

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: GAA: 1548G>A; Trp516Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: GAA: 1548G>A

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.

Scientific Reports

Masat, Elisa E; Laforêt, Pascal P; De Antonio, Marie M; Corre, Guillaume G; Perniconi, Barbara B; Taouagh, Nadjib N; Mariampillai, Kuberaka K; Amelin, Damien D; Mauhin, Wladimir W; Hogrel, Jean-Yves JY; Caillaud, Catherine C; Ronzitti, Giuseppe G; Puzzo, Francesco F; Kuranda, Klaudia K; Colella, Pasqualina P; Mallone, Roberto R; Benveniste, Olivier O; Mingozzi, Federico F; ,

Publication Date: 2016-11-04

Variant appearance in text: GAA: 1548G>A

PubMed Link: 27812025

Variant Present in the following documents:

• srep36182-s1.pdf

View BVdb publication page

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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: 1548G>A

PubMed Link: 27189384

Variant Present in the following documents:

• Main text
• 13023_2016_Article_442.pdf

View BVdb publication page

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Lung MRI and impairment of diaphragmatic function in Pompe disease.

Bmc Pulmonary Medicine

Wens, Stephan C A SC; Ciet, Pierluigi P; Perez-Rovira, Adria A; Logie, Karla K; Salamon, Elizabeth E; Wielopolski, Piotr P; de Bruijne, Marleen M; Kruijshaar, Michelle E ME; Tiddens, Harm A W M HA; van Doorn, Pieter A PA; van der Ploeg, Ans T AT

Publication Date: 2015-05-06

Variant appearance in text: GAA: 1548G>A

PubMed Link: 25943437

Variant Present in the following documents:

• Main text

View BVdb publication page

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Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.

Jimd Reports

Hahn, Andreas A; Praetorius, Susanne S; Karabul, Nesrin N; Dießel, Johanna J; Schmidt, Dorle D; Motz, Reinald R; Haase, Claudia C; Baethmann, Martina M; Hennermann, Julia B JB; Smitka, Martin M; Santer, René R; Muschol, Nicole N; Meyer, Ann A; Marquardt, Thorsten T; Huemer, Martina M; Thiels, Charlotte C; Rohrbach, Marianne M; Seyfullah, Gökce G; Mengel, Eugen E

Publication Date: 2015

Variant appearance in text: GAA: 1548G>A

PubMed Link: 25626711

Variant Present in the following documents:

• Main text

View BVdb publication page

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B-Cell Depletion is Protective Against Anti-AAV Capsid Immune Response: A Human Subject Case Study.

Molecular Therapy. Methods & Clinical Development

Corti, M M; Elder, Me M; Falk, Dj D; Lawson, L L; Smith, Bk B; Nayak, S S; Conlon, Tj T; Clément, N N; Erger, K K; Lavassani, E E; Green, M M; Doerfler, Pa P; Herzog, Rw R; Byrne, Bj B

Publication Date: 2014

Variant appearance in text: GAA: W516X

PubMed Link: 25541616

Variant Present in the following documents:

• Main text
• mtm201433.pdf

View BVdb publication page

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Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.

Journal Of Inherited Metabolic Disease

van Gelder, Carin M CM; Hoogeveen-Westerveld, Marianne M; Kroos, Marian A MA; Plug, Iris I; van der Ploeg, Ans T AT; Reuser, Arnold J J AJ

Publication Date: 2015-03

Variant appearance in text: GAA: 1548G>A

PubMed Link: 24715333

Variant Present in the following documents:

• Main text
• 10545_2014_Article_9707.pdf

View BVdb publication page

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B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease.

The Journal Of Pediatrics

Elder, Melissa E ME; Nayak, Sushrusha S; Collins, Shelley W SW; Lawson, Lee Ann LA; Kelley, Jeffry S JS; Herzog, Roland W RW; Modica, Renee F RF; Lew, Judy J; Lawrence, Robert M RM; Byrne, Barry J BJ

Publication Date: 2013-09

Variant appearance in text: GAA: 1548G>A

PubMed Link: 23601496

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.

Orphanet Journal Of Rare Diseases

de Vries, Juna M JM; van der Beek, Nadine A M E NA; Hop, Wim C J WC; Karstens, Francois P J FP; Wokke, John H JH; de Visser, Marianne M; van Engelen, Baziel G M BG; Kuks, Jan B M JB; van der Kooi, Anneke J AJ; Notermans, Nicolette C NC; Faber, Catharina G CG; Verschuuren, Jan J G M JJ; Kruijshaar, Michelle E ME; Reuser, Arnold J J AJ; van Doorn, Pieter A PA; van der Ploeg, Ans T AT

Publication Date: 2012-09-26

Variant appearance in text: GAA: 1548G>A

PubMed Link: 23013746

Variant Present in the following documents:

• 1750-1172-7-73.pdf

View BVdb publication page

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A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Orphanet Journal Of Rare Diseases

Herzog, Andreas A; Hartung, Ralf R; Reuser, Arnold J J AJ; Hermanns, Pia P; Runz, Heiko H; Karabul, Nesrin N; Gökce, Seyfullah S; Pohlenz, Joachim J; Kampmann, Christoph C; Lampe, Christina C; Beck, Michael M; Mengel, Eugen E

Publication Date: 2012-06-07

Variant appearance in text: GAA: 1548G>A; Trp516X

PubMed Link: 22676651

Variant Present in the following documents:

• Main text
• 1750-1172-7-35.pdf

View BVdb publication page

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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: 1548G>A; Trp516X

PubMed Link: 22252923

Variant Present in the following documents:

• Main text

View BVdb publication page

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Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Messinger, Yoav H YH; Mendelsohn, Nancy J NJ; Rhead, William W; Dimmock, David D; Hershkovitz, Eli E; Champion, Michael M; Jones, Simon A SA; Olson, Rebecca R; White, Amy A; Wells, Cara C; Bali, Deeksha D; Case, Laura E LE; Young, Sarah P SP; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2012-01

Variant appearance in text: GAA: 1548G>A

PubMed Link: 22237443

Variant Present in the following documents:

• Main text

View BVdb publication page

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