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489 results on '"Strauss, Kevin A"'

1. Attention-based Adversarial Appearance Learning of Augmented Pedestrians

Author

Strauss, Kevin, Savkin, Artem, and Tombari, Federico

Subjects
Computer Science - Computer Vision and Pattern Recognition
Abstract

Synthetic data became already an essential component of machine learning-based perception in the field of autonomous driving. Yet it still cannot replace real data completely due to the sim2real domain shift. In this work, we propose a method that leverages the advantages of the augmentation process and adversarial training to synthesize realistic data for the pedestrian recognition task. Our approach utilizes an attention mechanism driven by an adversarial loss to learn domain discrepancies and improve sim2real adaptation. Our experiments confirm that the proposed adaptation method is robust to such discrepancies and reveals both visual realism and semantic consistency. Furthermore, we evaluate our data generation pipeline on the task of pedestrian recognition and demonstrate that generated data resemble properties of the real domain.

Published
2021

2. APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain

Author

Ferguson, Cole J, Urso, Olivia, Bodrug, Tatyana, Gassaway, Brandon M, Watson, Edmond R, Prabu, Jesuraj R, Lara-Gonzalez, Pablo, Martinez-Chacin, Raquel C, Wu, Dennis Y, Brigatti, Karlla W, Puffenberger, Erik G, Taylor, Cora M, Haas-Givler, Barbara, Jinks, Robert N, Strauss, Kevin A, Desai, Arshad, Gabel, Harrison W, Gygi, Steven P, Schulman, Brenda A, Brown, Nicholas G, and Bonni, Azad

Subjects
Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Genetics, Brain Disorders, Neurosciences, 1.1 Normal biological development and functioning, Underpinning research, Neurological, Adolescent, Animals, Antigens, CD, Apc7 Subunit, Anaphase-Promoting Complex-Cyclosome, Behavior, Animal, Brain, Cadherins, Cell Line, Child, Child, Preschool, Disease Models, Animal, Female, Heterochromatin, Humans, Infant, Intellectual Disability, Intelligence, Ki-67 Antigen, Male, Mice, Inbred C57BL, Mice, Knockout, Mitosis, Mutation, Neural Stem Cells, Neurogenesis, Proteolysis, Signal Transduction, Syndrome, Ubiquitination, Young Adult, APC7, Cdh1, Ki-67, anaphase-promoting complex, brain, chromatin, heterochromatin, neurodevelopment, ubiquitin, ubiquitin ligase, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Neurodevelopmental cognitive disorders provide insights into mechanisms of human brain development. Here, we report an intellectual disability syndrome caused by the loss of APC7, a core component of the E3 ubiquitin ligase anaphase promoting complex (APC). In mechanistic studies, we uncover a critical role for APC7 during the recruitment and ubiquitination of APC substrates. In proteomics analyses of the brain from mice harboring the patient-specific APC7 mutation, we identify the chromatin-associated protein Ki-67 as an APC7-dependent substrate of the APC in neurons. Conditional knockout of the APC coactivator protein Cdh1, but not Cdc20, leads to the accumulation of Ki-67 protein in neurons in vivo, suggesting that APC7 is required for the function of Cdh1-APC in the brain. Deregulated neuronal Ki-67 upon APC7 loss localizes predominantly to constitutive heterochromatin. Our findings define an essential function for APC7 and Cdh1-APC in neuronal heterochromatin regulation, with implications for understanding human brain development and disease.

Published
2022

4. Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial

Author

Strauss, Kevin A., Farrar, Michelle A., Muntoni, Francesco, Saito, Kayoko, Mendell, Jerry R., Servais, Laurent, McMillan, Hugh J., Finkel, Richard S., Swoboda, Kathryn J., Kwon, Jennifer M., Zaidman, Craig M., Chiriboga, Claudia A., Iannaccone, Susan T., Krueger, Jena M., Parsons, Julie A., Shieh, Perry B., Kavanagh, Sarah, Tauscher-Wisniewski, Sitra, McGill, Bryan E., and Macek, Thomas A.

Published
2022
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5. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

Author

Strauss, Kevin A., Farrar, Michelle A., Muntoni, Francesco, Saito, Kayoko, Mendell, Jerry R., Servais, Laurent, McMillan, Hugh J., Finkel, Richard S., Swoboda, Kathryn J., Kwon, Jennifer M., Zaidman, Craig M., Chiriboga, Claudia A., Iannaccone, Susan T., Krueger, Jena M., Parsons, Julie A., Shieh, Perry B., Kavanagh, Sarah, Wigderson, Melissa, Tauscher-Wisniewski, Sitra, McGill, Bryan E., and Macek, Thomas A.

Published
2022
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7. Metabolic Crises

Author

Strauss, Kevin A., Lucking, Steven E., editor, Maffei, Frank A., editor, Tamburro, Robert F., editor, and Zaritsky, Arno, editor

Published
2021
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10. Preemptive dual therapy for children at risk for infantile‐onset spinal muscular atrophy.

Author

Matesanz, Susan E., Brigatti, Karlla W., Young, Millie, Yum, Sabrina W., and Strauss, Kevin A.

Subjects
SPINAL muscular atrophy, ACTION potentials, GENE therapy, ALPHA 1-antitrypsin deficiency
Abstract

Objective: Compare efficacy of gene therapy alone (monotherapy) or in combination with an SMN2 augmentation agent (dual therapy) for treatment of children at risk for spinal muscular atrophy type 1. Methods: Eighteen newborns with biallelic SMN1 deletions and two SMN2 copies were treated preemptively with monotherapy (n = 11) or dual therapy (n = 7) and followed for a median of 3 years. Primary outcomes were independent sitting and walking. Biomarkers were serial muscle ultrasonography (efficacy) and sensory action potentials (safety). Results: Gene therapy was administered by 7–43 postnatal days; dual therapy with risdiplam (n = 6) or nusinersen (n = 1) was started by 15–39 days. Among 18 children enrolled, 17 sat, 15 walked, and 44% had motor delay (i.e., delay or failure to achieve prespecified milestones). Those on dual therapy sat but did not walk at an earlier age. 91% of muscle ultrasounds conducted within 60 postnatal days were normal but by 3–61 months, 94% showed echogenicity and/or fasciculation of at least one muscle group; these changes were indistinguishable between monotherapy and dual therapy cohorts. Five children with three SMN2 copies were treated with monotherapy in parallel: all sat and walked on time and had normal muscle sonograms at all time points. No child on dual therapy experienced treatment‐associated adverse events. All 11 participants who completed sensory testing (including six on dual therapy) had intact sural sensory responses. Interpretation: Preemptive dual therapy is well tolerated and may provide modest benefit for children at risk for severe spinal muscular atrophy but does not prevent widespread degenerative changes. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Author

Blok, Lot Snijders, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot RF, Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T, Hoischen, Alexander, Vissers, Lisenka ELM, Koemans, Tom S, Wissink-Lindhout, Willemijn, Eichler, Evan E, Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, van Bon, Bregje WM, Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L, Van Dijck, Anke, Innes, A Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J, Henderson, Alex, Lynch, Sally A, Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Study, the DDD, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, van Gassen, Koen LI, Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L, Pediaditakis, Igor, Haas, Stefan A, Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G, Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C, Stein, Quinn, Strauss, Kevin A, Brigatti, Karlla W, Keating, Katherine, Burton, Barbara K, Kim, Katherine H, Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D, Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M, van Roozendaal, Kees, Brunner, Han, Chung, Wendy K, Kooy, R Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G, Katsanis, Nicholas, and Kleefstra, Tjitske

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Intellectual and Developmental Disabilities (IDD), Human Genome, Clinical Research, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Amino Acid Substitution, Animals, Base Sequence, DEAD-box RNA Helicases, Embryo, Nonmammalian, Exome, Female, Gene Dosage, Humans, Intellectual Disability, Male, Molecular Sequence Data, Mutation, Missense, Phenotype, Sequence Analysis, DNA, Sex Characteristics, Wnt Signaling Pathway, Zebrafish, DDD Study, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Intellectual disability (ID) affects approximately 1%-3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the X chromosome in males with ID, but there is less evidence for de novo mutations on the X chromosome causing ID in females. In this study we present 35 unique deleterious de novo mutations in DDX3X identified by whole exome sequencing in 38 females with ID and various other features including hypotonia, movement disorders, behavior problems, corpus callosum hypoplasia, and epilepsy. Based on our findings, mutations in DDX3X are one of the more common causes of ID, accounting for 1%-3% of unexplained ID in females. Although no de novo DDX3X mutations were identified in males, we present three families with segregating missense mutations in DDX3X, suggestive of an X-linked recessive inheritance pattern. In these families, all males with the DDX3X variant had ID, whereas carrier females were unaffected. To explore the pathogenic mechanisms accounting for the differences in disease transmission and phenotype between affected females and affected males with DDX3X missense variants, we used canonical Wnt defects in zebrafish as a surrogate measure of DDX3X function in vivo. We demonstrate a consistent loss-of-function effect of all tested de novo mutations on the Wnt pathway, and we further show a differential effect by gender. The differential activity possibly reflects a dose-dependent effect of DDX3X expression in the context of functional mosaic females versus one-copy males, which reflects the complex biological nature of DDX3X mutations.

Published
2015

15. 191 CMV-specific adaptive immune response in U.S. Mennonite patients with hypomorphic RAG1 or RAG2 mutations presenting with clinical variability

Author

Potts, David Evan, Ujhazi, Boglarka, Yilmaz, Melis, Toth, Marta, Dasso, Joseph, Blair, Grace, Franson, Brady, Altrich, Michelle, O'Gorman, Maurice, Cornaby, Caleb, Andreson, Kevin, Ward, Brant, Poskitt, Laura, Brigatti, Karlla, Young, Millie, Clark, Joelle Williamson, Verbsky, James, Sharapova, Svetlana, Butte, Manish, Notarangelo, Luigi, Strauss, Kevin, and Walter, Jolan

Published
2024
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17. Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

Author

Strauss, Kevin A., DuBiner, Lauren, Simon, Mariella, Zaragoza, Michael, Sengupta, Partho P., Li, Peng, Narula, Navneet, Dreike, Sandra, Platt, Julia, Procaccio, Vincent, Ortiz-Gonzalez, Xilma R., Puffenberger, Erik G., Kelley, Richard I., Morton, D. Holmes, Narula, Jagat, and Wallace, Douglas C.

Abstract

Mutations of both nuclear and mitochondrial DNA (mtDNA)–encoded mitochondrial proteins can cause cardiomyopathy associated with mitochondrial dysfunction. Hence, the cardiac phenotype of nuclear DNA mitochondrial mutations might be modulated by mtDNA variation. We studied a 13-generation Mennonite pedigree with autosomal recessive myopathy and cardiomyopathy due to an SLC25A4 frameshift null mutation (c.523delC, p.Q175RfsX38), which codes for the heart-muscle isoform of the adenine nucleotide translocator–1. Ten homozygous null (adenine nucleotide translocator–1−/−) patients monitored over a median of 6 years had a phenotype of progressive myocardial thickening, hyperalaninemia, lactic acidosis, exercise intolerance, and persistent adrenergic activation. Electrocardiography and echocardiography with velocity vector imaging revealed abnormal contractile mechanics, myocardial repolarization abnormalities, and impaired left ventricular relaxation. End-stage heart disease was characterized by massive, symmetric, concentric cardiac hypertrophy; widespread cardiomyocyte degeneration; overabundant and structurally abnormal mitochondria; extensive subendocardial interstitial fibrosis; and marked hypertrophy of arteriolar smooth muscle. Substantial variability in the progression and severity of heart disease segregated with maternal lineage, and sequencing of mtDNA from five maternal lineages revealed two major European haplogroups, U and H. Patients with the haplogroup U mtDNAs had more rapid and severe cardiomyopathy than those with haplogroup H.

Published
2013

19. Mapping of Sudden Infant Death with Dysgenesis of the Testes Syndrome (SIDDT) by a SNP Genome Scan and Identification of TSPYL Loss of Function

Author

Puffenberger, Erik G., Hu-Lince, Diane, Parod, Jennifer M., Craig, David W., Dobrin, Seth E., Conway, Andrew R., Donarum, Elizabeth A., Strauss, Kevin A., Dunckley, Travis, Cardenas, Javier F., Melmed, Kara R., Wright, Courtney A., Liang, Winnie, Stafford, Phillip, Flynn, C. Robert, Morton, D. Holmes, Stephan, Dietrich A., and de la Chapelle, Albert

Published
2004

20. Characteristics and Clinical Implications of Anti-IFN-α cytokine antibodies in partial Recombinase Activating Gene Deficiency patients before and during the COVID-19 Pandemic

Author

Gordon, Sumai, primary, Yilmaz, Melis, additional, Dasso, Joseph, additional, Cancrini, Caterina, additional, Brigatti, Karlla, additional, Strauss, Kevin, additional, Csomos, Krisztian, additional, Walter, Jolan, additional, Ujhazi, Boglarka, additional, and Licciardi, Francesco, additional

Published
2023
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22. WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy.

Author

Strauss, Kevin A., Carson, Vincent J., Bolettieri, Emilienne, Everett, Mariah, Bollinger, Ashton, Bowser, Lauren E., Beiler, Keturah, Young, Millie, Edvardson, Simon, Fraenkel, Nitay, D'Amico, Adele, Bertini, Enrico, Lingappa, Lokesh, Chowdhury, Devyani, Lowes, Linda P., Iammarino, Megan, Alfano, Lindsay N., and Brigatti, Karlla W.

Subjects
*NATURAL history, *MUSCLE diseases, *SKELETAL muscle, *SURVIVAL rate, *ARTIFICIAL respiration
Abstract

Objective: We created WiTNNess as a hybrid prospective/cross‐sectional observational study to simulate a clinical trial for infantile‐onset TNNT1 myopathy. Our aims were to identify populations for future trial enrollment, rehearse outcome assessments, specify endpoints, and refine trial logistics. Methods: Eligible participants had biallelic pathogenic variants of TNNT1 and infantile‐onset proximal weakness without confounding conditions. The primary endpoint was ventilator‐free survival. "Thriving" was a secondary endpoint defined as the ability to swallow and grow normally without non‐oral feeding support. Endpoints of gross motor function included independent sitting and standing as defined by the Word Health Organization, a novel TNNT1 abbreviated motor score, and video mapping of limb movement. We recorded adverse events, concomitant medications, and indices of organ function to serve as comparators of safety in future trials. Results: Sixteen children were enrolled in the aggregate cohort (6 prospective, 10 cross‐sectional; median census age 2.3 years, range 0.5–13.8). Median ventilator‐free survival was 20.2 months and probability of death or permanent mechanical ventilation was 100% by age 60 months. All six children (100%) in the prospective arm failed to thrive by age 12 months. Only 2 of 16 (13%) children in the aggregate cohort sat independently and none stood alone. Novel exploratory motor assessments also proved informative. Laboratory and imaging data suggest that primary manifestations of TNNT1 deficiency are restricted to skeletal muscle. Interpretation: WiTNNess allowed us to streamline and economize the collection of historical control data without compromising scientific rigor, and thereby establish a sound operational framework for future clinical trials. [ABSTRACT FROM AUTHOR]

Published
2023
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23. Intravenous and Intrathecal Onasemnogene Abeparvovec Gene Therapy in Symptomatic and Presymptomatic Spinal Muscular Atrophy: Long-Term Follow-Up Study (S34.002)

Author

Darras, Basil, primary, Mercuri, Eugenio, additional, Strauss, Kevin, additional, Day, John, additional, Chien, Yin-Hsiu, additional, Masson, Ricardo, additional, Wigderson, Melissa, additional, Alecu, Iulian, additional, Ballarini, Nicolas, additional, Mehl, Lesa, additional, Marra, Jonathan, additional, and Connolly, Anne, additional

Published
2023
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27. Clinical and genetic validity of quantitative bipolarity

Author

Bruce, Heather A., Kochunov, Peter, Mitchell, Braxton, Strauss, Kevin A., Ament, Seth A., Rowland, Laura M., Du, Xiaoming, Fisseha, Feven, Kavita, Thangavelu, Chiappelli, Joshua, Wisner, Krista, Sampath, Hemalatha, Chen, Shuo, Kvarta, Mark D., Seneviratne, Chamindi, Postolache, Teodor T., Bellon, Alfredo, McMahon, Francis J., Shuldiner, Alan, and Elliot Hong, L.

Published
2019
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30. A recessive ataxia diagnosis algorithm for the next generation sequencing era

Author

Renaud, Mathilde, Tranchant, Christine, Martin, Juan Vicente Torres, Mochel, Fanny, Synofzik, Matthis, van de Warrenburg, Bart, Pandolfo, Massimo, Koenig, Michel, Kolb, Stefan A., Anheim, Mathieu, Alonso, Isabel, Azzedine, Hamid, Barbot, Clara, Bereau, Matthieu, Berkovic, Sam, Bernard, Geneviéve, Bindoff, Laurence A., Bompaire, Flavie, Bonneau, Dominique, Bonneau, Patrizia, Boycott, Kym M., Bras, Jose, Brais, Bernard, Brigatti, Karlla W., Cameron, Jillian, Chamova, Teodora, Choquet, Karine, Delague, Valérie, Denizeau, Philippe, Dotti, Maria Teresa, El‐Euch, Ghada, Elmalik, Salah A., Federico, Antonio, Fiskerstrand, Torunn, Gagnon, Cynthia, Guerreiro, Rita, Guissart, Claire, Hassin‐Baer, Sharon, Heimdal, Ketil Riddervold, Héron, Bénédicte, Isohanni, Pirjo, Kalaydijeva, Luba, Kawarai, Toshitaka, Koht, Jeanette Aimee, Lai, Szu‐Chia, Piana, Roberta La, Lecocq, Claire, Linnankivi, Tarja, Lönnqvist, Tuula, Lu, Chin‐Song, Maas, Roderick, Mahlaoui, Nizar, Mallaret, Martial, Marelli, Cecilia, Mariotti, Caterina, Mathieu, Jean, Méneret, Aurélie, Mignarri, Andrea, Monin, Marie Lorraine, Montaut, Solveig, Nanetti, Lorenzo, Nadjar, Yann, Poujois, Aurélia, Salih, Mustafa A., Sousa, Sergio, Stanier, Philip, Stoppa‐Lyonnet, Dominique, Strauss, Kevin, Tallaksen, Chantal, Tarnopolsky, Mark, Tinant, Nadége, Tournev, Ivailo, Topaloglu, Haluk, Varhaug, Kristin Nielsen, Woimant, France, Wolf, Nicole I., Yahalom, Gilad, Yoon, Grace, and Young, Millie

Published
2017
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34. Onasemnogene Abeparvovec for Presymptomatic Infants with Spinal Muscular Atrophy and Two Copies of SMN2 (S39.004)

Author

Strauss, Kevin, primary, Muntoni, Francesco, additional, Farrar, Michelle, additional, Saito, Kayoko, additional, Mendell, Jerry, additional, Servais, Laurent, additional, McMillan, Hugh, additional, Finkel, Richard, additional, Swoboda, Kathryn, additional, Kwon, Jennifer, additional, Zaidman, Craig, additional, Chiriboga, Claudia, additional, Iannaccone, Susan, additional, Krueger, Jena, additional, Parsons, Julie, additional, Shieh, Perry, additional, Kavanagh, Sarah, additional, Chand, Deepa, additional, Tauscher-Wisniewski, Sitra, additional, McGill, Bryan, additional, and Macek, Thomas, additional

Published
2022
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35. Onasemnogene Abeparvovec in Presymptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update in Children with Three Copies of SMN2 (P15-5.001)

Author

Strauss, Kevin, primary, Muntoni, Francesco, additional, Farrar, Michelle, additional, Saito, Kayoko, additional, Mendell, Jerry, additional, Servais, Laurent, additional, McMillan, Hugh, additional, Finkel, Richard, additional, Swoboda, Kathryn, additional, Kwon, Jennifer, additional, Zaidman, Craig, additional, Chiriboga, Claudia, additional, Iannaccone, Susan, additional, Krueger, Jena, additional, Parsons, Julie, additional, Shieh, Perry, additional, Kavanagh, Sarah, additional, Chand, Deepa, additional, Tauscher-Wisniewski, Sitra, additional, McGill, Bryan, additional, and Macek, Thomas, additional

Published
2022
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36. Disease burden and management of Crigler-Najjar syndrome:Report of a world registry

Author

Aronson, Sem J., Junge, Norman, Trabelsi, Mediha, Kelmemi, Wided, Hubert, Aurelie, Brigatti, Karlla W., Fox, Michael D., de Knegt, Robert J., Escher, Johanna C., Ginocchio, Virginia M., Iorio, Raffaele, Zhu, Yan, Özçay, Figen, Rahim, Fakher, El-Shabrawi, Mortada H.F., Shteyer, Eyal, Di Giorgio, Angelo, D'Antiga, Lorenzo, Mingozzi, Federico, Brunetti-Pierri, Nicola, Strauss, Kevin A., Labrune, Philippe, Mrad, Ridha, Baumann, Ulrich, Beuers, Ulrich, Bosma, Piter J., Aronson, Sem J., Junge, Norman, Trabelsi, Mediha, Kelmemi, Wided, Hubert, Aurelie, Brigatti, Karlla W., Fox, Michael D., de Knegt, Robert J., Escher, Johanna C., Ginocchio, Virginia M., Iorio, Raffaele, Zhu, Yan, Özçay, Figen, Rahim, Fakher, El-Shabrawi, Mortada H.F., Shteyer, Eyal, Di Giorgio, Angelo, D'Antiga, Lorenzo, Mingozzi, Federico, Brunetti-Pierri, Nicola, Strauss, Kevin A., Labrune, Philippe, Mrad, Ridha, Baumann, Ulrich, Beuers, Ulrich, and Bosma, Piter J.

Published
2022

38. Additional file 1 of Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B

Author

Williams, Katie B., Horst, Michael, Young, Millie, Pascua, Christine, Puffenberger, Erik G., Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Shuldiner, Alan R., Gidding, Samuel, Strauss, Kevin A., and Chowdhury, Devyani

Abstract

Additional file 1. Supplemental Table 1: Plant sterols and fatty acids. Fasting plant sterol and fatty acid levels for ApoBR3500Q heterozygotes, homozygotes and age-matched sibling controls. Median (min-max) compared by the exact Wilcoxon rank-sum test.

Published
2022
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43. Metabolic Control and “Ideal” Outcomes in Liver Transplantation for Maple Syrup Urine Disease

Author

Ewing, Caroline B., primary, Soltys, Kyle A., additional, Strauss, Kevin A., additional, Sindhi, Rakesh, additional, Vockley, Jerry, additional, McKiernan, Patrick, additional, Squires, Robert H., additional, Bond, Geoffrey, additional, Ganoza, Armando, additional, Khanna, Ajai, additional, Mazariegos, George V., additional, and Squires, James E., additional

Published
2021
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46. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

Author

Jinks, Robert N., Puffenberger, Erik G., Baple, Emma, Harding, Brian, Crino, Peter, Fogo, Agnes B., Wenger, Olivia, Xin, Baozhong, Koehler, Alanna E., McGlincy, Madeleine H., Provencher, Margaret M., Smith, Jeffrey D., Tran, Linh, Al Turki, Saeed, Chioza, Barry A., Cross, Harold, Harlalka, Gaurav V., Hurles, Matthew E., Maroofian, Reza, Heaps, Adam D., Morton, Mary C., Stempak, Lisa, Hildebrandt, Friedhelm, Sadowski, Carolin E., Zaritsky, Joshua, Campellone, Kenneth, Morton, D. Holmes, Wang, Heng, Crosby, Andrew, and Strauss, Kevin A.

Published
2015
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49. Biochemical correlates of neuropsychiatric illness in maple syrup urine disease

Author

Muelly, Emilie R., Moore, Gregory J., Bunce, Scott C., Mack, Julie, Bigler, Don C., Morton, D. Holmes, and Strauss, Kevin A.

Subjects
Clinical chemistry -- Research, Amino acid metabolism, Inborn errors of -- Development and progression, Neuropsychiatry -- Research, Leucine -- Properties, Health care industry
Abstract

Maple syrup urine disease (MSUD) is an inherited disorder of branched chain amino acid metabolism presenting with neonatal encephalopathy, episodic metabolic decompensation, and chronic amino acid imbalances. Dietary management enables [...]

Published
2013
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