E
Ellen Crushell
Researcher at Temple University
Publications - 63
Citations - 2015
Ellen Crushell is an academic researcher from Temple University. The author has contributed to research in topics: Population & Medicine. The author has an hindex of 22, co-authored 55 publications receiving 1606 citations. Previous affiliations of Ellen Crushell include University College Dublin & Boston Children's Hospital.
Papers
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Journal ArticleDOI
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
Andrew A. M. Morris,Viktor Kožich,Saikat Santra,Generoso Andria,Tawfeg Ben-Omran,Anupam Chakrapani,Ellen Crushell,Mick J. Henderson,Michel Hochuli,Martina Huemer,Martina Huemer,Miriam C Janssen,François Maillot,Philip Mayne,Jenny McNulty,Tara M. Morrison,Helene Ogier,Siobhan O’Sullivan,Marketa Pavlikova,Isabel Tavares de Almeida,Allyson Terry,Sufin Yap,Henk J. Blom,Kimberly A. Chapman +23 more
TL;DR: Recommendations for the diagnosis and management of CBS deficiency are presented, based on a systematic review of the literature, and it is strongly recommend measuring the plasma total homocysteine concentrations in any patient whose clinical features suggest the diagnosis.
Journal ArticleDOI
Consensus clinical management guidelines for Niemann-Pick disease type C.
Tarekegn Geberhiwot,Alessandro Moro,Andrea Dardis,Uma Ramaswami,Sandra Sirrs,Mercedes Pineda Marfa,Marie T. Vanier,Mark Walterfang,Shaun Bolton,Charlotte Dawson,Bénédicte Héron,Miriam Stampfer,Jackie Imrie,Christian J. Hendriksz,Paul Gissen,Ellen Crushell,Maria Josep Coll,Yann Nadjar,Hans H. Klünemann,Eugen Mengel,M. Hrebicek,Simon Jones,Daniel S. Ory,Bruno Bembi,Marc C. Patterson +24 more
TL;DR: Clinical guidelines that define standard of care for NPC patients, foster shared care arrangements between expert centres and family physicians, and empower patients are developed that can inform care providers, care funders, patients and their carers of best practice of care.
Journal ArticleDOI
A Prospective Study of the Oral Manifestations of Crohn’s Disease
Sinead Harty,Padraig Fleming,Marion Rowland,Ellen Crushell,Michael McDermott,Brendan Drumm,Billy Bourke +6 more
TL;DR: More than one third of all children presenting with CD had involvement of the mouth, and the ability of physicians to recognize oral lesions was poor, suggesting expert dental evaluation may be useful during the investigation of patients with suspected inflammatory bowel disease.
Journal ArticleDOI
Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
Robert Kopajtich,Thomas J. Nicholls,Joanna Rorbach,Metodi D. Metodiev,Peter Freisinger,Hanna Mandel,Arnaud Vanlander,Daniele Ghezzi,Rosalba Carrozzo,Robert W. Taylor,Klaus Marquard,Kei Murayama,Thomas Wieland,Thomas Schwarzmayr,Johannes A. Mayr,Sarah F. Pearce,Christopher A. Powell,Ann Saada,Akira Ohtake,Federica Invernizzi,Eleonora Lamantea,Ewen W. Sommerville,Angela Pyle,Patrick F. Chinnery,Ellen Crushell,Yasushi Okazaki,Masakazu Kohda,Yoshihito Kishita,Yoshimi Tokuzawa,Zahra Assouline,Marlène Rio,François Feillet,Bénédict Mousson de Camaret,Dominique Chretien,Arnold Munnich,Arnold Munnich,Björn Menten,Tom Sante,Joél Smet,Luc Régal,Abraham Lorber,Asaad Khoury,Massimo Zeviani,Tim M. Strom,Thomas Meitinger,Enrico Bertini,Rudy Van Coster,Thomas Klopstock,Agnès Rötig,Tobias B. Haack,Michal Minczuk,Holger Prokisch +51 more
TL;DR: The study of a mitochondrial translation disorder points toward the importance of posttranscriptional modification of mitochondrial tRNAs for proper mitochondrial function.
Journal ArticleDOI
Importance of Parental Conceptual Model of Illness in Severe Recurrent Abdominal Pain
Ellen Crushell,Marion Rowland,Mairin Doherty,Siobhan Gormally,Sinead Harty,Billy Bourke,Brendan Drumm +6 more
TL;DR: Whether the parental conceptual model of illness is a factor in the long-term outcome of children with severe RAP is examined to find the acceptance by parents of a biopsychosocial model of illnesses is important for the resolution of recurrent abdominal pain in children.