Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Jamie Koh"'
Autor:
Laura Adang, Francesco Gavazzi, Valentina De Giorgis, Micaela De Simone, Elisa Fazzi, Jessica Galli, Jamie Koh, Julia Kramer-Golinkoff, Simona Orcesi, Kyle Peer, Nicole Ulrick
Publikováno v:
Journal of Clinical and Translational Science, Vol 3, Pp 45-45 (2019)
OBJECTIVES/SPECIFIC AIMS: A mimic of congenital infections and a rare genetic cause of interferon overproduction, Aicardi Goutières Syndrome (AGS) results in significant neurologic disability. AGS is caused by pathogenic changes in the intracellular
Externí odkaz:
https://doaj.org/article/37f04d83e8a44add93c8d4df0bce6e5b
Autor:
Nicole Ulrick, Abigail Collins, Sabrina W. Yum, Thais Armangue, Justine Shults, Katherine L. Boyle, Katherine McDonald, Francesco Gavazzi, Asako Takanohashi, Holly Dubbs, Amy Pizzino, Constance Besnier, Omar Sherbini, Carly Scher, Kyle Peer, Stephanie Keller, Pierre Lebon, Sarah Woidill, Nicole Jaffe, Jullie Rhee, Julia Kramer-Golinkoff, Guy Helman, David B. Frank, Adeline Vanderver, Jamie Koh, Jean-François Meritet, Laura Adang
Publikováno v:
N Engl J Med
JAK Inhibition in the Aicardi–Goutieres Syndrome Patients with the Aicardi–Goutieres syndrome, an autosomal recessive disorder that affects the central nervous system, immune system, and skin, have...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cd90a8dd50648581e3f80225ed33894
https://doi.org/10.1056/nejmc2001362
https://doi.org/10.1056/nejmc2001362
Autor:
Diva D. De León, Stephanie Givler, Jamie Koh, Mary Ellen Vajravelu, Justine Shults, Lauren Mitteer, Morgan Congdon
Publikováno v:
Hormone Research in Paediatrics. 91:62-68
Feeding problems are frequent in infants with congenital hyperinsulinism (HI) and may be exacerbated by continuous enteral nutrition (EN) used to maintain euglycemia. Our center’s HI team uses dextrose solution given continuously via gastric tube (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae8b9da9e62821ef9b9f51d582859b65
https://doi.org/10.1159/000491105
https://doi.org/10.1159/000491105
Autor:
Jamie Koh, Nicole Ulrick, Kyle Peer, Valentina De Giorgis, Justine Shults, Julia Kramer-Golinkoff, Adeline Vanderver, Micaela De Simone, Laura Adang, Francesco Gavazzi, Simona Orcesi, Jessica Galli, Elisa Fazzi, Sarah Woidill
Publikováno v:
J Child Neurol
Publons
Publons
Aicardi Goutières syndrome is a monogenic interferonopathy caused by abnormalities in the intracellular nucleic acid sensing machinery ( TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, or IFIH1). Most individuals affected by Aicardi Goutières s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::785f99d95fbea1115ec8477fe70f498d
https://pubmed.ncbi.nlm.nih.gov/31559893
https://pubmed.ncbi.nlm.nih.gov/31559893
Autor:
Richard O'Shaughnessy, Chris Harman, Jamie Koh, William Polzin, Richard Brown, Mark P. Johnson, Michael V. Zaretsky, Enrico Danzer
Publikováno v:
Fetal diagnosis and therapy. 44(1)
Objective: The aim of this study was to define the natural history of lower urinary tract obstruction (LUTO) with normal midgestational amniotic fluid volumes. Materials and Methods: We performed a retrospective review of 32 consecutive patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26157ce96d9bafe65c176f118d4a59d9
https://pubmed.ncbi.nlm.nih.gov/28700992
https://pubmed.ncbi.nlm.nih.gov/28700992
Autor:
Simona Orcesi, Nicole Ulrick, Valentina De Giorgis, Elisa Fazzi, Micaela De Simone, Francesco Gavazzi, Kyle Peer, Julia Kramer-Golinkoff, Laura Adang, Jessica Galli, Jamie Koh
Publikováno v:
Journal of Clinical and Translational Science
OBJECTIVES/SPECIFIC AIMS: A mimic of congenital infections and a rare genetic cause of interferon overproduction, Aicardi Goutières Syndrome (AGS) results in significant neurologic disability. AGS is caused by pathogenic changes in the intracellular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06d4fe1d885180a4299fce7d04af1093
http://europepmc.org/articles/PMC6798888
http://europepmc.org/articles/PMC6798888
Autor:
Enrico Danzer, Jamie Koh, Marsha Gerdes, Michael Bebbington, Scott N. Adzick, Mark P. Johnson
Publikováno v:
Child's Nervous System. 27:1083-1088
To study preschool functional status in children following fetal myelomeningocele (fMMC) surgery.Prior to the NICHD-MOMS trial, 30 fMMC underwent standardized neurodevelopmental examination at 5 years of age. Functional status was determined with the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffe0ee1269f1dcc1e0d84df36a785ac1
https://doi.org/10.1007/s00381-011-1388-y
https://doi.org/10.1007/s00381-011-1388-y
Autor:
Jamie Koh, Enrico Danzer, Allison Thomas, Marsha Gerdes, N. Scott Adzick, Nina H. Thomas, Mark P. Johnson, Karen B. Friedman
Publikováno v:
American journal of obstetrics and gynecology. 214(2)
Myelomeningocele (MMC) represents the first nonlethal anomaly to be treated by prenatal intervention. Case series and a prospective, randomized study show that fetal surgery for MMC before 26 weeks' gestation may preserve neurological function. Long-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8238eb54505c38fb5eddab376735add2
https://pubmed.ncbi.nlm.nih.gov/26440692
https://pubmed.ncbi.nlm.nih.gov/26440692
Autor:
Enrico Danzer, Jamie Koh, N. Scott Adzick, Michael Bebbington, Marsha Gerdes, Mark P. Johnson
Publikováno v:
Fetal diagnosis and therapy. 30(3)
Objective: It was the aim of this study to assess the prevalence of preschool neurobehavioral problems in children following fetal myelomeningocele (fMMC) surgery. Methods: Prior to the Management of Myelomeningocele Study, 30 fMMC patients underwent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cc772d9d3c5c2a3a219354e8d5b186a
https://pubmed.ncbi.nlm.nih.gov/21912086
https://pubmed.ncbi.nlm.nih.gov/21912086
Autor:
Enrico Danzer, Nina Thomas, Allison Sullivan, Karen Friedman, Marsha Gerdes, Rachel Hammond, Jamie Koh, N. Scott Adzick, Mark Johnson
Publikováno v:
American Journal of Obstetrics and Gynecology. 208:S183
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a8b74c969ad778fe230a56e99a3467de
https://doi.org/10.1016/j.ajog.2012.10.583
https://doi.org/10.1016/j.ajog.2012.10.583