Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Dorcas Koenigsberger"'
Autor:
Kristin Engelstad, Rachel Salazar, Dorcas Koenigsberger, Erin Stackowtiz, Susan Brodlie, Melanie Brandabur, Darryl C. De Vivo
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 5, Pp 1151-1157 (2021)
Abstract We explored the benefits of triheptanoin as a treatment for Short Chain Enoyl Co‐A Hydratase (SCEH) deficiency. One child with early onset, severe SCEH Deficiency was treated with triheptanoin, an odd chain oil with anapleurotic properties
Externí odkaz:
https://doaj.org/article/a9f0efde463a4e419916f114b4df033b
Autor:
Melanie Brandabur, Dorcas Koenigsberger, Kristin Engelstad, Susan Brodlie, Erin Stackowtiz, Rachel Salazar, Darryl C. De Vivo
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 5, Pp 1151-1157 (2021)
Annals of Clinical and Translational Neurology, Vol 8, Iss 5, Pp 1151-1157 (2021)
We explored the benefits of triheptanoin as a treatment for Short Chain Enoyl Co‐A Hydratase (SCEH) deficiency. One child with early onset, severe SCEH Deficiency was treated with triheptanoin, an odd chain oil with anapleurotic properties, for 37
Publikováno v:
The Medical Treatment of Epilepsy ISBN: 9781003066736
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ba26c84be5a405379ca487abb39175a
https://doi.org/10.1201/9781003066736-62
https://doi.org/10.1201/9781003066736-62
Autor:
Megan Montgomery, Ridda Hasnain, Dorcas Koenigsberger, Petra Kaufmann, Douglas M. Sproule, Darryl C. De Vivo
Publikováno v:
Journal of Child Neurology. 27:845-851
Growth failure is nearly universal in spinal muscular atrophy type 1 and common in type 2, although acuity is often underappreciated at initial diagnosis. We reviewed 44 consecutive spinal muscular atrophy patients (28 type 1, 16 type 2) under 3 year
Autor:
Romana Kulikova, Darryl C. De Vivo, Vanessa Battista, Mary Sano, Dikoma C. Shungu, Maryam Oskoui, Juan M. Pascual, Douglas M. Sproule, Salvatore DiMauro, S. Shanske, Kristin Engelstad, Dorcas Koenigsberger, Petra Kaufmann, Ying Wei, Xiangling Mao, Michio Hirano
Publikováno v:
Neurology. 77:1965-1971
Objective: To describe the natural history of clinical and laboratory features associated with the m.3243A>G mitochondrial DNA point mutation. Natural history data are needed to obtain prognostic information and for clinical trial planning. Methods:
Autor:
Dorcas Koenigsberger, Basil T. Darras, Douglas M. Sproule, Jayson Caracciolo, Maryjane Benton, Eugenio Mercuri, Mark Punyanitya, Wei Shen, Vanessa Battista, Jacqueline Montes, Sally Dunaway, Darryl C. De Vivo, Petra Kaufmann, Richard S. Finkel, Hailly Butler, Megan Montgomery, Bill Martens
Publikováno v:
Neuromuscular Disorders. 20:448-452
The relationship between body composition and function in spinal muscular atrophy (SMA) is poorly understood. 53 subjects with SMA were stratified by type and Hammersmith functional motor scale, expanded score into three cohorts: low-functioning non-
Autor:
Dorcas Koenigsberger, Jacqueline Montes, Vanessa Battista, Petra Kaufmann, Douglas M. Sproule, Megan Montgomery, Darryl C. De Vivo, Wei Shen, Mark Punyanitya
Publikováno v:
Neuromuscular Disorders. 19:391-396
Body composition is sparsely described in spinal muscular atrophy (SMA). Body (BMI, mass/height in m2), fat-free (FFMI, lean mass/height in m2) and fat (FMI, fat mass/height in m2) mass indexes were estimated in 25 children (ages 5–18) with SMA (2
Autor:
Joanne Carroll, Dorcas Koenigsberger
Publikováno v:
Journal of the American Dietetic Association. 98:316-321
The ketogenic diet is a high-fat, low-carbohydrate diet that results in ketosis. It has been in use for nearly 70 years. Several modifications of the diet's original form, including the medium-chain triglyceride (MCT) diet, have been made in an attem
Autor:
Paivi M. Ullner, Dong Wang, Darryl C. De Vivo, Veronica J. Hinton, Linda D. Leary, Kristin Engelstad, Cigdem I. Akman, Dorcas Koenigsberger
Publikováno v:
Annals of neurology. 67(1)
Objective Glucose transporter type 1 deficiency syndrome (Glut1-DS) is characterized clinically by acquired microcephaly, infantile-onset seizures, psychomotor retardation, choreoathetosis, dystonia, and ataxia. The laboratory signature is hypoglycor
Autor:
Vanessa Battista, Kristin Engelstad, Dorcas Koenigsberger, Salvatore DiMauro, Xiangling Mao, Petra Kaufmann, Romana Kulikova, Mary Sano, Michio Hirano, Ying Wei, Dikoma C. Shungu, Darryl C. De Vivo, Maryam Oskoui, Juan M. Pascual
Publikováno v:
Archives of Neurology. 66
Objective To describe the spectrum of clinical symptoms, signs, and laboratory features associated with A3243G, a mitochondrial DNA point mutation that affects multiple organs with varying severity, making the diagnosis and treatment of these patient