Carol Van Ryzin - National Human Genome Research Institute, National Institutes of Health

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论文共 42 篇作者统计合作学者相似作者

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Hydroxocobalamin Dose Intensification Improves Ocular, Neurological and Biochemical Outcomes in CBLC Deficiency

Jennifer Sloan,Wadih Zein,Audrey Thurm,Camryn Hall,Carol Van Ryzin,Susan Ferry,Abigael Gebremariam,Jennifer Myles,Laryssa Huryn,Brian Brooks,Irini Manoli,Charles Venditti

MOLECULAR GENETICS AND METABOLISMno. 4 (2024)

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Denise K Liberton,Konstantinia Almpani,Rashmi Mishra,Carol Bassim,Carol Van Ryzin, On Behalf Of The Moebius Syndrome Research Consortium,Bryn D Webb,Ethylin Wang Jabs,Elizabeth C Engle,Francis S Collins,Irini Manoli,Janice S Lee

International Journal of Environmental Research and Public Healthno. 5 (2024): 615

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Intellectual Disability and Autism in Propionic Acidemia: a Biomarker-Behavioral Investigation Implicating Dysregulated Mitochondrial Biology

Oleg A. Shchelochkov,Cristan A. Farmer,Colby Chlebowski,Dee Adedipe,Susan Ferry,Irini Manoli,Alexandra Pass,Samantha McCoy,Carol Van Ryzin,Jennifer Sloan,Audrey Thurm,Charles P. Venditti

Molecular Psychiatrypp.1-8, (2024)

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Biomarkers to Predict Disease Progression and Therapeutic Response in Isolated Methylmalonic Acidemia

Irini Manoli,Abigael Gebremariam,Samantha McCoy,Alexandra R Pass,Jack Gagné,Camryn Hall,Susan Ferry,Carol Van Ryzin,Jennifer L Sloan,Elisa Sacchetti,Giulio Catesini,Cristiano Rizzo,Diego Martinelli,Marco Spada,Carlo Dionisi-Vici,Charles P Venditti

Journal of inherited metabolic diseaseno. 4 (2023): 554-572

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Noncoding Variants Alter GATA2 Expression in Rhombomere 4 Motor Neurons and Cause Dominant Hereditary Congenital Facial Paresis

Alan P. Tenney,Silvio Alessandro Di Gioia,Bryn D. Webb,Wai-Man Chan,Elke de Boer,Sarah J. Garnai,Brenda J. Barry, Tammy Ray,Michael Kosicki,Caroline D. Robson,Zhongyang Zhang,Thomas E. Collins,Alon Gelber,Brandon M. Pratt,Yuko Fujiwara,Arushi Varshney,Monkol Lek,Peter E. Warburton,Carol Van Ryzin,Tanya J. Lehky,Christopher Zalewski,Kelly A. King,Carmen C. Brewer,Audrey Thurm,Joseph Snow,Flavia M. Facio, Narisu,Lori L. Bonnycastle,Amy Swift,Peter S. Chines,Jessica L. Bell,Suresh Mohan,Mary C. Whitman,Sandra E. Staffieri,James E. Elder,Joseph L. Demer,Alcy Torres,Elza Rachid,Christiane Al-Haddad,Rose-Mary Boustany,David A. Mackey,Angela F. Brady,María Fenollar-Cortés,Melanie Fradin,Tjitske Kleefstra,George W. Padberg,Salmo Raskin,Mario Teruo Sato,Stuart H. Orkin,Stephen C. J. Parker,Tessa A. Hadlock,Lisenka E. L. M. Vissers,Hans van Bokhoven,Ethylin Wang Jabs,Francis S. Collins,Len A. Pennacchio,Irini Manoli,Elizabeth C. Engle

NATURE GENETICSno. 7 (2023): 1149-+

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GYNECOLOGIC ISSUES IN METHYLMALONIC ACIDEMIA (MMA), COBALAMIN DISORDERS AND PROPIONIC ACIDEMIA

Melissa A. Merideth,Jennifer Sloan,Carol Van Ryzin,Abigael Gebremariam,Susan Ferry,Irini Manoli,Oleg Shchelochkov,Charles P. Venditti

Molecular Genetics and Metabolism（2022）

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Exploring the Natural History of Cobalamin B (cblB) type Methylmalonic Acidemia (MMA) to Guide the Development of Systemic AAV Gene Therapy

Abigael Gebremariam,Samantha Mccoy,Alexandra R. Pass,Jennifer L. Sloan,Susan Ferry,Carol Van Ryzin,Eun-Young Choi,Oleg Shchelochkov,Irini Manoli,Charles P. Venditti

MOLECULAR THERAPY（2022）

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COBALAMIN TREATMENT STRATEGIES IN VITAMIN B12-RESPONSIVE COBALAMIN A-TYPE METHYLMALONIC ACIDEMIA

Ryan Peretz,Samantha Mccoy,Jennifer Sloan,Oleg Shchelochkov,Susan Ferry,Carol Van Ryzin,Jennifer Myles,Audrey Thurm,Joseph Snow,Renata Gallagher,Diana Bianchi,Irini Manoli,Charles Venditti

Molecular Genetics and Metabolism（2022）

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A Generalizable Approach to Extracting Relevant Biomarkers for AAV Gene Therapy from Natural History Datasets: Application to Propionic Acidemia

Oleg Shchelochkov,Samantha Mccoy,Alexandra Pass,Jennifer Myles,Susan Ferry,Carol Van Ryzin,Megan Schoenfeld,Colby Chlebowski,Jennifer Sloan,Audrey Thurm,Kong Y. Chen,Irini Manoli,Charles P. Venditti

MOLECULAR THERAPY（2022）

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