logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
delete
arrow
返回
A

Andrea Gropman

nih clinical center (cc)

57H指数
420论文数
1.2W被引数
收录论文 117
发表时间
logo
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder游离唾液酸贮积症的临床与遗传学特征
errJournal of Inherited Metabolic Disease
IF3.8
err2026-03-25
err0
errOAAI
errWolfenson, Zoe; Grois, Gabriella; Hailemeskel, Ruth F.; Sabaii, Marla; Huryn, Laryssa A.; Zein, Wadih M.; Lehky, Tanya; Thurm, Audrey; Joseph, Lisa; Baker, Eva H.; Vezina, Gilbert; Hyland, Keith; Pollard, Laura; Macnamara, Ellen; Gropman, Andrea; Malicdan, May C.; Gahl, William A.; Adams, David R.; Wolfe, Lynne
err分享
err收藏
The Role of Genetic Testing in Pediatric Expressive Language Delay: Evidence from the National Brain Gene Registry基因检测在儿童表达性语言发育迟缓中的作用：国家脑基因登记册的证据
errGenes
IF2.8
err2026-01-06
err0
errOAAI
errShivani Waghmare; Alexa M. Taylor; Cecilia Bouska; Ana Moreno Chaza; Andrea Gropman
err分享
err收藏
Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years
errFRONTIERS IN ENDOCRINOLOGY
IF4.6
err2025-12-18
err0
errOAAI
errOlaya, Margaret; Samango-Sprouse, Carole; Counts, Debra; Kline, Antonie D.; Mitchell, Francie; Buscema, Elizabeth; Tipton, Elizabeth; Sadeghin, Teresa; Gropman, Andrea L.
err分享
err收藏
Incidence of miscarriages in women with children with 47; XXY; 48; XXXY; or 49; XXXXY女性生育47，XXY；48，XXXY；或49，XXXY患儿的自然流产发生率
errFrontiers in Endocrinology
IF4.6
err2025-11-27
err0
errOAAI
errElizabeth Moser; Margaret Olaya; Andrea Gropman; Teresa Sadeghin; Carole Samango-Sprouse
err分享
err收藏
Exon-skipping due to biallelic splice site mutations in the neurodevelopmental disease gene LNPK由于神经发育疾病基因LNPK中双等位基因剪接位点突变导致的跨外显子跳跃
errHuman Genetics and Genomics Advances
IF3.6
err2025-11-06
err0
errOAAI
errRose M. Doss; Sara A. Wirth; Jonathan W. Pitsch; Caroline M. Dias; Andrea L. Gropman; Martin W. Breuss
err分享
err收藏
Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations遗传代谢病中的婴儿痉挛症：诊断和治疗考量
errJOURNAL OF CHILD NEUROLOGY
IF1.6
err2025-11-01
err0
PREAI
errBuraniqi, Ersida; Lee, Hsuan-Tung; Sen, Kuntal; Chapman, Kimberly A.; Grant, Christina Lee; Chen, Wei-Liang; Gropman, Andrea L.
err分享
err收藏
Growth Standards for Children With Smith-Magenis Syndrome (SMS)Smith-magenis综合征 (SMS) 儿童的生长标准
errAmerican Journal of Medical Genetics Part A
IF1.7
err2025-10-01
err0
errOAAI
errHoover-Fong, Julie; McGready, John; Fleming, Leah; Schulze, Kerry; Duncan, Folami; Leonard, Alexis; Boucard, Marie Christine de Blois; Moretti-Ferreira, Danilo; Gropman, Andrea L.; Introne, Wendy J.; Smith, Ann C. M.
err分享
err收藏
From Crisis to Continuum: Redefining Survivorship in Neurometabolic Care从危机到连续体：重新定义神经代谢护理中的生存期
errPediatric Neurology
IF2.1
err2025-08-25
err0
PREAI
errBharatendu Chandra; Madelyn Klemmensen; Brian J. Shayota; Andrea L. Gropman
err分享
err收藏
SYNGAP1 Syndrome and the Brain Gene RegistrySYNGAP1综合征与大脑基因登记处
errGENES
IF2.8
err2025-03-30
err0
errOAAI
errGreco, Melissa R.; Chatterjee, Maya; Taylor, Alexa M.; Gropman, Andrea L.
err分享
err收藏
Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum
errPEDIATRIC NEUROLOGY
IF2.1
err2025-01-01
err0
PREAI
errSen, Kuntal; Vera, Alonso Zea; Puronurmi, Anna; Gropman, Andrea; Wongkittichote, Parith; Ganetzky, Rebecca; Autio, Kaija; Kastaniotis, Alexander
err分享
err收藏
Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises
errPEDIATRIC NEUROLOGY
IF2.1
err2024-10-01
err0
PREAI
errChanvanichtrakool, Mongkol; Schreiber, John M.; Chen, Wei-Liang; Barber, John; Zhang, Anqing; Mew, Nicholas Ah; Schulze, Andreas; Wilkening, Greta; Nagamani, Sandesh C. S.; Gropman, Andrea
err分享
err收藏
Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-09-01
err1
errOAAI
errZielonka, Matthias; Koelker, Stefan; Garbade, Sven F.; Gleich, Florian; Nagamani, Sandesh C. S.; Gropman, Andrea L.; Druck, Ann-Catrin; Ramdhouni, Nesrine; Goede, Laura; Hoffmann, Georg F.; Posset, Roland
err分享
err收藏
Seizure Characteristics and EEG Features in Intoxication Type and Energy Deficiency Neurometabolic Disorders in the Pediatric Intensive Care Unit: Single-Center Experience Over 10 Years
errNEUROCRITICAL CARE
IF3.6
err2024-08-13
err0
errOAAI
errSen, Kuntal; Harrar, Dana; Pariseau, Nicole; Tucker, Karis; Keenan, Julia; Zhang, Anqing; Gropman, Andrea
err分享
err收藏
Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder
errPEDIATRIC NEUROLOGY
IF2.1
err2024-07-01
err0
PREAI
errPickup, Elizabeth; Moore, Steven A.; Suwannarat, Pim; Grant, Christina; Mew, Nicholas Ah; Gropman, Andrea; Sen, Kuntal
err分享
err收藏
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-05-01
err5
PREAI
errLatzer, Itay Tokatly; Bertoldi, Mariarita; Blau, Nenad; DiBacco, Melissa L.; Elsea, Sarah H.; Garcia-Cazorla, Angels; Gibson, K. Michael; Gropman, Andrea L.; Hanson, Ellen; Hoffman, Carolyn; Jeltsch, Kathrin; Julia-Palacios, Natalia; Knerr, Ina; Lee, Henry H. C.; Malaspina, Patrizia; McConnell, Alice; Opladen, Thomas; Oppeboen, Mari; Rotenberg, Alexander; Walterfang, Mark; Wang-Tso, Lee; Wevers, Ron A.; Roullet, Jean-Baptiste; Pearl, Phillip L.
err分享
err收藏
Assessing the functional impact of ASL missense variants using high throughput yeast assays
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errTang, Michelle; Cromie, Gareth; Lo, Russell; Timour, Martin; Morizono, Hiroki; Caldovic, Ljubica; Mew, Nicholas Ah.; Gropman, Andrea; Dudley, Aimee
err分享
err收藏
Are asymptomatic carriers of OTC always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errSen, Kuntal; Izem, Rima; Long, Yuelin; Jiang, Jiji; Konczal, Laura; McCarter, Robert; Gropman, Andrea; Bedoyan, Jirair
err分享
err收藏
Heightened cerebral blood oxygenation changes during a cognitive task in GLUT1 deficiency syndrome (G1D)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errGropman, Andrea; Khaksari, Kosar; Chen, Wei-Liang; Pascual, Juan
err分享
err收藏
N-of-1 use of Moberg CNS Monitor in an inborn error of metabolism
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errGropman, Andrea; Khaksari, Kosar; Sen, Kuntal; Chen, Wei-Liang; Fraser, Jamie; Chang, Taeun
err分享
err收藏
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
errGENETICS IN MEDICINE
IF6.2
err2024-04-01
err2
errOAAI
errPosset, Roland; Garbade, Sven F.; Gleich, Florian; Scharre, Svenja; Okun, Juergen G.; Gropman, Andrea L.; Nagamani, Sandesh C. S.; Druck, Ann-Catrin; Epp, Friederike; Hoffmann, Georg F.; Koelker, Stefan; Zielonka, Matthias
err分享
err收藏

研究方向

暂时未获取到该数据
合作学者
合作期刊
J
James F. Gusella
H 指数: 132 · 论文数: 726
M
Mark A. Tarnopolsky
H 指数: 129 · 论文数: 889
W
William B. Dobyns
H 指数: 127 · 论文数: 600
I
Isaac S. Kohane
H 指数: 119 · 论文数: 921
H
Hugo J. Bellen
H 指数: 117 · 论文数: 611
查看更多