Zobrazeno 1 - 10
of 22
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45b7225d5cf282b7153a3d0c21ba0d9b
https://pubmed.ncbi.nlm.nih.gov/33931985
https://pubmed.ncbi.nlm.nih.gov/33931985
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95a266fdf95035d9f2f32e6f21face76
https://doi.org/10.1177/0883073811415680
https://doi.org/10.1177/0883073811415680
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:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96f1f43f46b75f387b6386925ebe1349
https://doi.org/10.1212/wnl.0b013e31823a0c7f
https://doi.org/10.1212/wnl.0b013e31823a0c7f
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-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea6876ee9bd885c6f839728b74d8218f
https://doi.org/10.1016/j.nmd.2010.05.013
https://doi.org/10.1016/j.nmd.2010.05.013
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5201370f9582ae8dc152e489df81a44
https://doi.org/10.1016/j.nmd.2009.03.009
https://doi.org/10.1016/j.nmd.2009.03.009
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3c971e63eeef4a2dcf95e8f8dc0218f7
https://doi.org/10.1016/s0002-8223(98)00074-1
https://doi.org/10.1016/s0002-8223(98)00074-1
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f380e7520cabc91f3722813eaedd003
https://pubmed.ncbi.nlm.nih.gov/20186957
https://pubmed.ncbi.nlm.nih.gov/20186957
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bed8f77ed1c8d2c271861e20d3f368e7
https://doi.org/10.1001/archneurol.2008.526
https://doi.org/10.1001/archneurol.2008.526