Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations
Ersida Buraniqi, Hsuan-Tung Lee, Kuntal Sen, Kimberly A. Chapman et autres
0 citationsJournal of Child Neurology
Kimberly A. Chapman
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130Publications signalées
4591Citations signalées
4Affiliations récentes
Institutions déclarées
Domaines associés
Metabolism and Genetic DisordersMitochondrial Function and PathologyDiet and metabolism studiesFolate and B Vitamins ResearchGenomics and Rare Diseases
Publications récentes
DDX3X syndrome: a multicenter genotype-phenotype study
Emanuele G. Coci, Christoph G. W. Gertzen, Pilar Chacon Millan, Maria Daniela D ́Agostino et autres
0 citationsResearch Square
Propionic acidemia and methylmalonic aciduria: A portrait of the first 3 years—Admissions and complications
Kimberly A. Chapman, Nicholas Ah. Mew, Nina Mickle, Danielle Starin et autres
2 citationsMolecular Genetics and Metabolism
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling
Kimberly A. Chapman, Farid Ullah, Zachary A Yahiku, Sheraz Jamal Khan et autres
1 citationThe American Journal of Human Genetics
A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid chromatography
Kirkland Wilson, Yun Zhou, Gary Cunningham, Kimberly A. Chapman et autres
0 citationsMolecular Genetics and Metabolism Reports
P038: Impact of homocystinuria on the brain and nervous system
Brittany Parke, Danaé Bartke, Zohreh Talebizadeh, Peter F. Baker et autres
0 citationsGenetics in Medicine Open
DEATH SECONDARY TO BRAIN HERNIATION IN CLASSIC MSUD PATIENTS
Maria Cristina Laso-Salazar, Debra S. Regier, Kimberly A. Chapman, Erin MacLeod et autres
0 citationsSSRN Electronic Journal
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl et autres
131 citationsNature
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling
Kimberly A. Chapman, Farid Ullah, Zachary A Yahiku, Sri Varsha Kodiparthi et autres
1 citationmedRxiv
A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 minutes, using reverse phase high performance liquid chromatography
Kirkland Wilson, Yun Zhou, Gary Cunningham, Kimberly A. Chapman et autres
0 citationsmedRxiv
Blood-based Biomarkers of Neuronal and Glial Damage in Active Major Neuropsychiatric Systemic Lupus Erythematosus (P8-14.012)
Ryan Kammeyer, Kimberly A. Chapman, Anna Furniss, Ekemini A. Ogbu et autres
0 citationsNeurology
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton et autres
10 citationsmedRxiv
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