Researcher
Andrew Edmondson
University of Pennsylvania
Statistics
43 papers found
All papers authored by Andrew Edmondson
Refreshing results…
2021
Anna N. Ligezka,
Silvia Radenkovic,
Mayank Saraswat,
Kishore Garapati,
Wasantha Ranatunga,
Wirginia Krzysciak,
Hitoshi Yanaihara,
Graeme Preston,
William Brucker,
Renee M. McGovern,
Joel M. Reid,
David Cassiman,
Karthik Muthusamy 
,
Christin Johnsen,
Saadet Mercimek‐Andrews
and 11 other authors
,
Christin Johnsen,
Saadet Mercimek‐Andrews
and 11 other authors
Sorbitol Is a Severity Biomarker for PMM2‐CDG with Therapeutic Implications
Download from onlinelibrary.wiley.com
Camille Tremblay-Laganière ,
Reza Maroofian,
Thi Tuyet Mai Nguyen,
Ehsan Ghayoor Karimiani,
Salman Kirmani,
Fizza Akbar,
Shahnaz Ibrahim,
Bushra Afroze,
Mohammad Doosti,
Farah Ashrafzadeh,
Meisam Babaei,
Stephanie Efthymiou,
Marilena Christoforou,
Tipu Sultan,
Roger L. Ladda
and 36 other authors
,
Reza Maroofian,
Thi Tuyet Mai Nguyen,
Ehsan Ghayoor Karimiani,
Salman Kirmani,
Fizza Akbar,
Shahnaz Ibrahim,
Bushra Afroze,
Mohammad Doosti,
Farah Ashrafzadeh,
Meisam Babaei,
Stephanie Efthymiou,
Marilena Christoforou,
Tipu Sultan,
Roger L. Ladda
and 36 other authors
PIGG variant pathogenicity assessment reveals characteristic features within 19 families
Download from www.nature.com
Christin Johnsen ,
Andrew C. Edmondson
,
Andrew C. Edmondson
Manifestations and Management of Hepatic Dysfunction in Congenital Disorders of Glycosylation
Download from onlinelibrary.wiley.com
Anna Čechová,
Tomáš Honzík,
Andrew C. Edmondson ,
Can Ficicioglu,
Mercedes Serrano,
Rita Barone,
Pascale De Lonlay,
Manuel Schiff,
Peter Witters,
Christina Lam,
Marc Patterson,
Mirian C. H. Janssen,
Joana Correia,
Dulce Quelhas,
Jolanta Sykut-Cegielska
and 3 other authors
,
Can Ficicioglu,
Mercedes Serrano,
Rita Barone,
Pascale De Lonlay,
Manuel Schiff,
Peter Witters,
Christina Lam,
Marc Patterson,
Mirian C. H. Janssen,
Joana Correia,
Dulce Quelhas,
Jolanta Sykut-Cegielska
and 3 other authors
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
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Daniel L. Polla,
Andrew C. Edmondson ,
Sandrine Duvet,
Michael E. March,
Ana Berta Sousa,
Anna Lehman,
Dmitriy Niyazov,
Fleur van Dijk,
Serwet Demirdas,
Marjon A. van Slegtenhorst,
Anneke J. A. Kievit,
Celine Schulz,
Linlea Armstrong,
Xin Bi,
Daniel J. Rader
and 13 other authors
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,
Sandrine Duvet,
Michael E. March,
Ana Berta Sousa,
Anna Lehman,
Dmitriy Niyazov,
Fleur van Dijk,
Serwet Demirdas,
Marjon A. van Slegtenhorst,
Anneke J. A. Kievit,
Celine Schulz,
Linlea Armstrong,
Xin Bi,
Daniel J. Rader
and 13 other authors
Upload
Hind Alsharhan ,
Miao He,
Andrew C. Edmondson ,
Earnest J. P. Daniel,
Jie Chen,
Tyhiesia Donald,
Somayeh Bakhtiari,
David J. Amor,
Elizabeth A. Jones,
Grace Vassallo,
Marie Vincent,
Benjamin Cogné,
Wallid Deb,
Arend H. Werners,
Sheng C. Jin
and 11 other authors
Download from onlinelibrary.wiley.com
,
Miao He,
Andrew C. Edmondson ,
Earnest J. P. Daniel,
Jie Chen,
Tyhiesia Donald,
Somayeh Bakhtiari,
David J. Amor,
Elizabeth A. Jones,
Grace Vassallo,
Marie Vincent,
Benjamin Cogné,
Wallid Deb,
Arend H. Werners,
Sheng C. Jin
and 11 other authors
Download from onlinelibrary.wiley.com
Hind Alsharhan,
Bobby G. Ng,
Jennifer Friedman,
Eniko K. Pivnick,
Eissa Ali Faqeih,
Pengfei Liu,
Nicole M. Engelhardt,
Kierstin N. Keller,
Pamela A. Mazzeo,
Jill A. Rosenfeld,
Deborah A. Nickerson,
Kimiyo M. Raymond,
Hudson H. Freeze,
Miao He,
Christina Lam
and 5 other authors
Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG
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Peter Witters ,
Andrew C. Edmondson ,
Christina Lam,
Christin Johnsen,
Marc C. Patterson,
Kimiyo M. Raymond,
Miao He,
Hudson H. Freeze,
Eva Morava
Download from link.springer.com
,
Andrew C. Edmondson ,
Christina Lam,
Christin Johnsen,
Marc C. Patterson,
Kimiyo M. Raymond,
Miao He,
Hudson H. Freeze,
Eva Morava
Download from link.springer.com
Rodrigo Tzovenos Starosta ,
Suzanne Boyer,
Shawn Tahata,
Kimiyo Raymond,
Hee Eun Lee,
Lynne A. Wolfe,
Christina Lam,
Andrew C. Edmondson ,
Ida Vanessa Doederlein Schwartz,
Eva Morava
Download from link.springer.com
,
Suzanne Boyer,
Shawn Tahata,
Kimiyo Raymond,
Hee Eun Lee,
Lynne A. Wolfe,
Christina Lam,
Andrew C. Edmondson ,
Ida Vanessa Doederlein Schwartz,
Eva Morava
Download from link.springer.com
2020
Diane B. Zastrow,
Chunli Zhao,
Stephan Zuchner,
Thi Tuyet Mai Nguyen ,
Anik St‐Denis,
Jessica Zambonin,
A. St-Denis,
F. Sessions Cole,
Julie Richer,
Manuela Pendziwiat,
Loren D. M. Pena,
Rebecca C. Spillmann,
Heather Mefford,
Matthew Might,
Ghayda Mirzaa
and 279 other authors
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,
Anik St‐Denis,
Jessica Zambonin,
A. St-Denis,
F. Sessions Cole,
Julie Richer,
Manuela Pendziwiat,
Loren D. M. Pena,
Rebecca C. Spillmann,
Heather Mefford,
Matthew Might,
Ghayda Mirzaa
and 279 other authors
Download from api.wiley.com
Ruqaiah Altassan,
Silvia Radenkovic,
Andrew C. Edmondson ,
Rita Barone,
Sandra Brasil,
Anna Cechova,
David Coman,
Sarah Donoghue,
Kristina Falkenstein,
Vanessa Ferreira,
Carlos Ferreira,
Agata Fiumara,
Rita Francisco,
Rita Francsico,
Hudson Freeze
and 22 other authors
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,
Rita Barone,
Sandra Brasil,
Anna Cechova,
David Coman,
Sarah Donoghue,
Kristina Falkenstein,
Vanessa Ferreira,
Carlos Ferreira,
Agata Fiumara,
Rita Francisco,
Rita Francsico,
Hudson Freeze
and 22 other authors
Download from api.wiley.com
Monica Zilmer ,
Andrew C. Edmondson ,
Sumeet A. Khetarpal,
Viola Alesi,
Maha S. Zaki,
Kevin Rostasy,
Camilla G. Madsen,
Francesca R. Lepri,
Lorenzo Sinibaldi,
Raffaella Cusmai,
Antonio Novelli,
Mahmoud Y. Issa,
Christina D. Fenger,
Rami Abou Jamra,
Heiko Reutter
and 17 other authors
,
Andrew C. Edmondson ,
Sumeet A. Khetarpal,
Viola Alesi,
Maha S. Zaki,
Kevin Rostasy,
Camilla G. Madsen,
Francesca R. Lepri,
Lorenzo Sinibaldi,
Raffaella Cusmai,
Antonio Novelli,
Mahmoud Y. Issa,
Christina D. Fenger,
Rami Abou Jamra,
Heiko Reutter
and 17 other authors
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function
Download from academic.oup.com
Peter Witters ,
Shawn Tahata,
Rita Barone,
Katrin Õunap,
Ramona Salvarinova,
Sabine Grønborg,
George Hoganson,
Fernando Scaglia,
Andrea Margaret Lewis,
Mari Mori,
Jolanta Sykut-Cegielska ,
Andrew Edmondson ,
Miao He,
Eva Morava
,
Shawn Tahata,
Rita Barone,
Katrin Õunap,
Ramona Salvarinova,
Sabine Grønborg,
George Hoganson,
Fernando Scaglia,
Andrea Margaret Lewis,
Mari Mori,
Jolanta Sykut-Cegielska ,
Andrew Edmondson ,
Miao He,
Eva Morava
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG
Download from www.nature.com
2019
Silvia Radenkovic,
Matthew J. Bird,
Tim L. Emmerzaal ,
Sunnie Y. Wong,
Catarina Felgueira,
Kyle M. Stiers,
Leila Sabbagh,
Nastassja Himmelreich,
Gernot Poschet ,
Petra Windmolders,
Jan Verheijen,
Peter Witters,
Ruqaiah Altassan,
Tomas Honzik,
Tuba F. Eminoglu
and 10 other authors
,
Sunnie Y. Wong,
Catarina Felgueira,
Kyle M. Stiers,
Leila Sabbagh,
Nastassja Himmelreich,
Gernot Poschet ,
Petra Windmolders,
Jan Verheijen,
Peter Witters,
Ruqaiah Altassan,
Tomas Honzik,
Tuba F. Eminoglu
and 10 other authors
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG
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Jie Chen,
Xueli Li,
Andrew Edmondson ,
Gail Ditewig Meyers,
Kosuke Izumi,
Amanda M. Ackermann,
Eva Morava,
Can Ficicioglu,
Michael J. Bennett,
Miao He
Upload
,
Gail Ditewig Meyers,
Kosuke Izumi,
Amanda M. Ackermann,
Eva Morava,
Can Ficicioglu,
Michael J. Bennett,
Miao He
Upload
Bobby G. Ng,
Paulina Sosicka,
Satish Agadi,
Mohammed Almannai,
Carlos A. Bacino,
Rita Barone,
Lorenzo D. Botto,
Jennifer E. Burton,
Colleen Carlston,
Brian Hon‐Yin Chung,
Julie S. Cohen,
David Coman,
Katrina M. Dipple,
Naghmeh Dorrani,
William B. Dobyns
and 54 other authors
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2018
Kai Lee Yap,
Amy E. Knight Johnson,
David Fischer,
Priscilla Kandikatla,
Jacea Deml,
Viswateja Nelakuditi,
Sara Halbach,
George S. Jeha,
Lindsay C. Burrage,
Olaf Bodamer,
Valeria C. Benavides,
Andrea M. Lewis,
Sian Ellard,
Pratik Shah,
Declan Cody
and 10 other authors
Download from www.nature.com
2017
Andrew C. Edmondson ,
Emma C. Bedoukian,
Matthew A. Deardorff,
Donna M. McDonald-Mcginn,
Xueli Li,
Miao He,
Elaine H. Zackai
,
Emma C. Bedoukian,
Matthew A. Deardorff,
Donna M. McDonald-Mcginn,
Xueli Li,
Miao He,
Elaine H. Zackai
A human case of SLC35A3 -related skeletal dysplasia
Download from api.wiley.com
2016
Ashleigh Long,
Elena S. Sinkovskaya,
Andrew C. Edmondson ,
Elaine Zackai,
Samantha A. Schrier Vergano
,
Elaine Zackai,
Samantha A. Schrier Vergano
Kabuki syndrome as a cause of non-immune fetal hydrops/ascites
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