Christina Grant - Div Genet & Metab, Childrens Natl Hosp

基本信息

浏览量：0

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 41 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

Mucopolysaccharidosis Type VII (sly Syndrome) - What Do We Know

Christina L. Grant,Jaime Lopez-Valdez,Deborah Marsden,Fatih Ezgu

Molecular Genetics and Metabolismno. 3 (2024): 108145-108145

引用0浏览0WOS引用

Implementation of a Tier System for IVIG Indications to Address IVIG Shortage at a Tertiary Care Pediatric Medical Center

Kristina Roth,Christina Darwish,Michael D. Keller,Benjamin Hammer, Sameeva Ahmed-Winston,Enrique Escalante,Vanessa Madrigal, Dianthia Patrick,Yaser Diab,Christina Grant,Benjamin Hanisch,Ilana Kahn,Sairah Khan,Asha Moudgil,Birte Wistinghausen

Pediatric Blood & Cancer（2024）

引用0浏览0WOS引用

P024: Role of Muscle Biopsy and Exome Re-Analysis in a Mystery Case of Lactic Acidosis

Elizabeth Pickup,Kuntal Sen,Steven Moore,Pim Suwannarat,Christina Grant,Nicholas Ah Mew,Andrea Gropman

Genetics in medicine open (2024): 100901-100901

引用0浏览0引用

Thiamine Responsive MSUD Due to Splice Altering Variants: Confounding the Genotype Phenotype Correlation

Charles Billington,Erin MacLeod, Jenny Jacobson,Kara Simpson,Nicholas Ah. Mew,Christina Grant,Seth Berger

Molecular Genetics and Metabolismno. 4 (2024): 108183-108183

引用0浏览0引用

P184: Hypermobility Clinic: Innovative Workflow Supporting Patients and Provider Wellness

Kimberly Chapman, Spencer Vause,Seth Berger, Deepika Burkardt,Jamie Fraser,Christina Grant, KeriAnn Kuperman,Amy Lewanda, Darilyn Mahoney,Gabrielle Pomorski, Louise Pyle,Kenneth Rosenbaum, Kiley Quintana,Natasha Shur,Debra Regier

Genetics in Medicine Open (2024): 101081

引用0浏览0引用

Early Clinical Response and Continued Safety with Vestronidase ALFA for the Treatment of Mucopolysaccharidosis VII (MPS VII)

Barbara Burton,Roberto Giugliani,Antonio Gonzalez-Meneses,Christina Lee Grant,Maurizio Scarpa,Angela Sun,Raymond Wang,Ans Van der Ploeg,Esmeralda Martins,Consuelo Durand,Brigitte Chabrol,Joel Hetzer,Betsy Malkus, Jeanne Cohen,Deborah Marsden,J. Lawrence Merritt

MOLECULAR GENETICS AND METABOLISMno. 4 (2024)

引用0浏览0引用

Disease Characteristics, Effectiveness, and Safety of Vestronidase Alfa for the Treatment of Patients with Mucopolysaccharidosis VII in a Novel, Longitudinal, Multicenter Disease Monitoring Program

Roberto Giugliani,Antonio Gonzalez-Meneses,Maurizio Scarpa,Barbara Burton,Raymond Wang, Esmeralda Martins, Esmeralda Oussoren,Julia B. Hennermann,Brigitte Chabrol,Christina L. Grant,Angela Sun,Consuelo Durand,Joel Hetzer,Betsy Malkus,Deborah Marsden,J. Lawrence Merritt II

ORPHANET JOURNAL OF RARE DISEASES（2024）

引用0浏览0WOS引用

The Clinical Challenge of New Variants Encountered in Newborn Screening: the Example of ASN290ASP in GAA

Silvia Tortorelli,Wendy Smith,Nishitha Pillai,Christina Lee Grant, KeriAnn Kuperman,Noelle Fabie, Erica Wright,Katie Sapp,Craig Baker, Alyssa Keller,Dawn Peck

Molecular Genetics and Metabolismno. 4 (2024): 108299-108299

引用0浏览0引用

De Novo Variants in the RNU4-2 Snrna Cause a Frequent Neurodevelopmental Syndrome

Yuyang Chen,Ruebena Dawes,Hyung Chul Kim,Alicia Ljungdahl,Sarah L Stenton,Susan Walker,Jenny Lord,Gabrielle Lemire, Alexandra C Martin-Geary,Vijay S Ganesh, Jialan Ma,Jamie M Ellingford,Erwan Delage,Elston N D'Souza,Shan Dong,David R Adams, Kirsten Allan,Madhura Bakshi, Erin E Baldwin,Seth I Berger,Jonathan A Bernstein, Ishita Bhatnagar,Ed Blair,Natasha J Brown,Lindsay C Burrage,Kimberly Chapman,David J Coman,Alison G Compton, Chloe A Cunningham,Precilla D'Souza,Petr Danecek,Emmanuèle C Délot,Kerith-Rae Dias,Ellen R Elias,Frances Elmslie,Care-Anne Evans,Lisa Ewans,Kimberly Ezell,Jamie L Fraser,Lyndon Gallacher,Casie A Genetti,Anne Goriely,Christina L Grant,Tobias Haack, Jenny E Higgs,Anjali G Hinch,Matthew E Hurles,Alma Kuechler,Katherine L Lachlan,Seema R Lalani,François Lecoquierre,Elsa Leitão,Anna Le Fevre,Richard J Leventer,Jan E Liebelt,Sarah Lindsay,Paul J Lockhart,Alan S Ma,Ellen F Macnamara,Sahar Mansour,Taylor M Maurer,Hector R Mendez,Kay Metcalfe,Stephen B Montgomery,Mariya Moosajee,Marie-Cécile Nassogne,Serena Neumann, Michael O'Donoghue,Melanie O'Leary,Elizabeth E Palmer, Nikhil Pattani,John Phillips,Georgia Pitsava, Ryan Pysar,Heidi L Rehm,Chloe M Reuter,Nicole Revencu,Angelika Riess,Rocio Rius,Lance Rodan,Tony Roscioli,Jill A Rosenfeld,Rani Sachdev, Charles J Shaw-Smith,Cas Simons,Sanjay M Sisodiya,Penny Snell, Laura St Clair,Zornitza Stark,Helen S Stewart,Tiong Yang Tan,Natalie B Tan,Suzanna E L Temple,David R Thorburn,Cynthia J Tifft,Eloise Uebergang,Grace E VanNoy,Pradeep Vasudevan,Eric Vilain,David H Viskochil,Laura Wedd,Matthew T Wheeler,Susan M White,Monica Wojcik,Lynne A Wolfe,Zoe Wolfenson,Caroline F Wright,Changrui Xiao,David Zocche,John L Rubenstein,Eirene Markenscoff-Papadimitriou,Sebastian M Fica,Diana Baralle,Christel Depienne,Daniel G MacArthur, M,Stephan J Sanders,Anne O'Donnell-Luria,Nicola Whiffin

Natureno. 8026 (2024): 832-840

引用0浏览0WOSNATURE引用

Performance Measures and Patient/caregiver-Reported Assessments Collected in a Longitudinal, Multi-Center Disease Monitoring Program (DMP) of Patients with Mucopolysaccharidosis Type VII (MPS VII)

Betsy C. Malkus, Jeanne M. Cohen,Christina L. Grant,Maurizio Scarpa,Angela Sun,Raymond Y. Wang,Barbara K. Burton, Esmeralda Oussoren,Esmeralda E. Martins,Consuelo Durand,Brigitte Chabrol, Lionel Ortiz,Joel Hetzer,Deborah Marsden,J. Lawrence Merritt,Roberto Giugliani,Antonio Gonzalez-Meneses

MOLECULAR GENETICS AND METABOLISMno. 2 (2024)

引用0浏览0引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn