Zobrazeno 1 - 10
of 260
pro vyhledávání: '"Andrea L, Gropman"'
Autor:
Kuntal Sen, Rima Izem, Yuelin Long, Jiji Jiang, Laura L. Konczal, Robert J. McCarter, Members of the Urea Cycle Disorders Consortium (UCDC), Andrea L. Gropman, Jirair K. Bedoyan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Background Ornithine transcarbamylase deficiency (OTCD) due to an X‐linked OTC mutation, is responsible for moderate to severe hyperammonemia (HA) with substantial morbidity and mortality. About 80% of females with OTCD remain apparently
Externí odkaz:
https://doaj.org/article/ff12e2767c3c4f77888b31bc65408744
Autor:
Svenja Scharre, Roland Posset, Sven F. Garbade, Florian Gleich, Marie J. Seidl, Ann‐Catrin Druck, Jürgen G. Okun, Andrea L. Gropman, Sandesh C. S. Nagamani, Georg F. Hoffmann, Stefan Kölker, Matthias Zielonka, for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 11, Pp 1715-1726 (2022)
Abstract Objective Ornithine transcarbamylase deficiency (OTC‐D) is an X‐linked metabolic disease and the most common urea cycle disorder. Due to high phenotypic heterogeneity, ranging from lethal neonatal hyperammonemic events to moderate sympto
Externí odkaz:
https://doaj.org/article/80a717ca16474543b1d406f7323ea749
Autor:
Alonso Zea Vera, Andrea L. Gropman
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Refractory movement disorders are a common feature of inborn errors of metabolism (IEMs), significantly impacting quality of life and potentially leading to life-threatening complications such as status dystonicus. Surgical techniques, including deep
Externí odkaz:
https://doaj.org/article/54d2b25c47704f96b4b1b0cd76363e82
Autor:
Carole A. Samango-Sprouse, Mary P. Hamzik, Kenneth Rosenbaum, Kosar Khaksari, Francie Mitchell, Ritika Kommareddi, Michaela R. Brooks, Elizabeth Tipton, Teresa Sadeghin, Andrea L. Gropman
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Pallister–Killian syndrome is an uncommon genetic disorder that has broad developmental and multisystemic effects. While medical complications are widely reported throughout the literature, research on the neurodevelopmental profile has been limite
Externí odkaz:
https://doaj.org/article/3e322b6a9d13490797006e3b3572b8e1
Autor:
Elizabeth Berry-Kravis, Robyn A. Filipink, Richard E. Frye, Sailaja Golla, Stephanie M. Morris, Howard Andrews, Tse-Hwei Choo, Walter E. Kaufmann, The FORWARD Consortium, Milen Velinov, Amy L. Talboy, Stephanie L. Sherman, Marcy Schuster, Nicole Tartaglia, Dejan B. Budimirovic, Deborah Barbouth, Amy Lightbody, Allan Reiss, Carol M. Delahunty, Randi J. Hagerman, David Hessl, Craig A. Erickson, Gary Feldman, Jonathan D. Picker, Ave M. Lachiewicz, Holly K. Harris, Amy Esler, Patricia A. Evans, Mary Ann Morris, Barbara A. Haas-Givler, Andrea L. Gropman, Ryan S. Uy, Reymundo Lozano, Carrie Buchanan, Jean A. Frazier
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability, learning disability, and autism spectrum disorder, is associated with an increased prevalence of certain medical conditions including seizures. The goal of this stu
Externí odkaz:
https://doaj.org/article/2144dddb74154f51a1bf96b7016b2719
Autor:
Matthias Zielonka, Stefan Kölker, Florian Gleich, Nicolas Stützenberger, Sandesh C. S. Nagamani, Andrea L. Gropman, Georg F. Hoffmann, Sven F. Garbade, Roland Posset, the Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1858-1871 (2019)
Abstract Objective Citrullinemia type 1 (CTLN1) is an inherited metabolic disease affecting the brain which is detectable by newborn screening. The clinical spectrum is highly variable including individuals with lethal hyperammonemic encephalopathy i
Externí odkaz:
https://doaj.org/article/8228c36ba0fa4c66909c82f77027a6c0
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
The urea cycle disorders (UCD) are rare genetic disorder due to a deficiency of one of six enzymes or two transport proteins that act to remove waste nitrogen in form of ammonia from the body. In this review, we focus on neuroimaging studies in OTCD
Externí odkaz:
https://doaj.org/article/f5fe6032f49b4b4392cd00ad13f0d97a
Publikováno v:
Diagnostics, Vol 12, Iss 4, p 861 (2022)
Inborn errors of metabolism (IEM) are a group of disorders due to functional defects in one or more metabolic pathways that can cause considerable morbidity and death if not diagnosed early. While individually rare, the estimated global prevalence of
Externí odkaz:
https://doaj.org/article/eceedb60556a4e168e351536438b5618
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 4, p 76 (2021)
In this review, we analyze medical and select ethical aspects of the increasing use of next-generation sequencing (NGS) based tests in newborn medicine. In the last five years, there have been several studies exploring the role of rapid exome sequenc
Externí odkaz:
https://doaj.org/article/6a7f737778f946d0b1229c60b53af767
Autor:
Samango-Sprouse, Mary P. Hamzik, Andrea L. Gropman, Michaela R. Brooks, Sherida Powell, Teresa Sadeghin, Carole A.
Publikováno v:
Genes; Volume 14; Issue 7; Pages: 1402
47,XXY, also known as Klinefelter syndrome, is the most commonly occurring sex chromosomal aneuploidy (SCA). Hormonal replacement therapy (HRT) has been associated with improved neurodevelopmental capabilities in boys with 47,XXY, although studies in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::2bfbae84a7de43012a9a9dc9950aeb46