检索结果 - Kevin A. Strauss

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  1. 1
    Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency

    Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency 由 Kevin A. Strauss, Patrick Donnelly, Max Wintermark

    出版 2009
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  2. 2
    Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency

    Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency 由 Kevin A. Strauss, Jelena Lazović, Max Wintermark, D. Holmes Morton

    出版 2007
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  3. 3
    Urine pH: the Effects of Time and Temperature after Collection

    Urine pH: the Effects of Time and Temperature after Collection 由 J. D. Cook, Kevin A. Strauss, Yale H. Caplan, Charles LoDico, David Bush

    出版 2007
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  4. 4
    Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2‐ketoglutaric aciduria

    Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2‐ketoglutaric aciduria 由 Richard I. Kelley, Donna L. Robinson, Erik G. Puffenberger, Kevin A. Strauss, D. Holmes Morton

    出版 2002
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  5. 5
    Biochemical correlates of neuropsychiatric illness in maple syrup urine disease

    Biochemical correlates of neuropsychiatric illness in maple syrup urine disease 由 Emilie Muelly, Gregory J. Moore, Scott C. Bunce, Julie Mack, Don C. Bigler, D. Holmes Morton, Kevin A. Strauss

    出版 2013
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  6. 6
    STRADα deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice

    STRADα deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice 由 Ksenia Orlova, Whitney E. Parker, Gregory G. Heuer, Victoria Tsai, Jason Yoon, Marianna Baybis, Robert S. Fenning, Kevin A. Strauss, Peter B. Crino

    出版 2010
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  7. 7
    Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2

    Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2 由 Kevin A. Strauss, Erik G. Puffenberger, Matthew J. Huentelman, Steven M. Gottlieb, Seth Dobrin, Jennifer M. Parod, Dietrich A. Stephan, D. Holmes Morton

    出版 2006
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  8. 8
    Classical maple syrup urine disease and brain development: Principles of management and formula design

    Classical maple syrup urine disease and brain development: Principles of management and formula design 由 Kevin A. Strauss, Bridget Wardley, Donna L. Robinson, Christine Hendrickson, Nicholas L. Rider, Erik G. Puffenberger, Diana Shelmer, Ann B. Moser, D. Holmes Morton

    出版 2009
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  9. 9
    Liver Transplantation for Classical Maple Syrup Urine Disease: Long-Term Follow-Up in 37 Patients and Comparative United Network for Organ Sharing Experience

    Liver Transplantation for Classical Maple Syrup Urine Disease: Long-Term Follow-Up in 37 Patients and Comparative United Network for Organ Sharing Experience 由 George Mazariegos, D. Holmes Morton, Rakesh Sindhi, Kyle Soltys, Navdeep Nayyar, Geoffrey Bond, Diana A. Shellmer, Benjamin L. Shneider, Jerry Vockley, Kevin A. Strauss

    出版 2011
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  10. 10
    Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing

    Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing 由 Arindam Bhattacharjee, Tanya Sokolsky, Stacia K. Wyman, Martin G. Reese, Erik G. Puffenberger, Kevin A. Strauss, Holmes Morton, Richard B. Parad, Edwin W. Naylor

    出版 2014
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  11. 11
    Early Progenitor Cell Marker Expression Distinguishes Type II From Type I Focal Cortical Dysplasias

    Early Progenitor Cell Marker Expression Distinguishes Type II From Type I Focal Cortical Dysplasias 由 Ksenia Orlova, Victoria Tsai, Marianna Baybis, Gregory G. Heuer, Sanjay M. Sisodiya, Maria Thom, Kevin A. Strauss, Eleonora Aronica, Phillip B. Storm, Peter B. Crino

    出版 2010
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  12. 12
    Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells

    Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells 由 Mamoru Yoshikawa, S. E. Go, Shuichi Suzuki, Atsushi Suzuki, Yukio Katori, Thierry Morlet, Steven M. Gottlieb, M. Fujiwara, Kenji Iwasaki, Kevin A. Strauss, Jin‐ichi Inokuchi

    出版 2015
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  13. 13
    Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: A case series

    Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: A case series 由 Diana A. Shellmer, Annette DeVito Dabbs, Mary Amanda Dew, Robert B. Noll, Heidi M. Feldman, Kevin A. Strauss, D. Holmes Morton, Jerry Vockley, George Mazariegos

    出版 2010
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  14. 14
    Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy

    Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy 由 John Day, Jerry R. Mendell, Eugenio Mercuri, Richard S. Finkel, Kevin A. Strauss, A. de Kleyn, Sitra Tauscher‐Wisniewski, F Tukov, Sandra P. Reyna, Deepa H. Chand

    出版 2021
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  15. 15
    Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx

    Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx 由 Kevin A. Strauss, Joan Brumbaugh, Alana Duffy, Bridget Wardley, Donna L. Robinson, Christine Hendrickson, Silvia Tortorelli, Ann B. Moser, Erik G. Puffenberger, Nicholas L. Rider, D. Holmes Morton

    出版 2011
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  16. 16
    Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder

    Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder 由 Whitney E. Parker, Ksenia Orlova, William H. Parker, Jacqueline F. Birnbaum, Vera P. Krymskaya, Dmitry A. Goncharov, Marianna Baybis, Jelte Helfferich, Kei Okochi, Kevin A. Strauss, Peter B. Crino

    出版 2013
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  17. 17
    Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy

    Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atr... 由 Kevin A. Strauss, Vincent J. Carson, Karlla W. Brigatti, Millie Young, Donna L. Robinson, Christine Hendrickson, Michael D. Fox, Robert M. Reed, Erik G. Puffenberger, William G. Mackenzie, Freeman Miller

    出版 2018
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  18. 18
    Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

    Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease 由 Naomi J. Lohr, Jean P. Molleston, Kevin A. Strauss, Wilfredo Torres‐Martinez, Eric A. Sherman, Robert H. Squires, Nicholas L. Rider, Kudakwashe Chikwava, Oscar W. Cummings, D. Holmes Morton, Erik G. Puffenberger

    出版 2010
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  19. 19
    Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease

    Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease 由 Kevin A. Strauss, George Mazariegos, Rakesh Sindhi, R Squires, David N. Finegold, Jerry Vockley, Donna L. Robinson, C. Hendrickson, M. A. Virji, Lorna Cropcho, Erik G. Puffenberger, William McGhee, Lynn Seward, D. Holmes Morton

    出版 2006
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  20. 20
    Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5

    Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5 由 Erik G. Puffenberger, Kevin A. Strauss, Keri Ramsey, David W. Craig, Dietrich Stephan, Donna L. Robinson, C. Hendrickson, Scott Gottlieb, David A. Ramsay, Victoria Mok Siu, Gregory G. Heuer, Peter B. Crino, D. Holmes Morton

    出版 2007
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