Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Caroline Malcolmson"'
Autor:
Elisa Nigro, Eyal Grunebaum, Binita Kamath, Christoph Licht, Caroline Malcolmson, Aamir Jeewa, Craig Campbell, Hugh McMillan, Pranesh Chakraborty, Mark Tarnopolsky, Hernan Gonorazky
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Spinal muscular atrophy (SMA) is a neuromuscular genetic disorder caused by the loss of lower motor neurons leading to progressive muscle weakness and atrophy. With the rise of novel therapies and early diagnosis on newborn screening (NBS), the natur
Externí odkaz:
https://doaj.org/article/0ef9cd25f9a44b1b9fee6b56324a1d81
Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100741- (2021)
We report a 9-year-old boy with lysinuric protein intolerance (LPI). He had developmental delay, short stature, failure to thrive, high-protein food aversion, hypothyroidism, growth hormone deficiency, features of hemophagocytic lymphohistiocytosis (
Externí odkaz:
https://doaj.org/article/e03955e5c5474efb99458a49ba0616ae
Autor:
Caroline Malcolmson, Michael Shu, Vanessa Bouskill, Ann Marie Stain, Cindy Wakefield, Victor Blanchette, Manuel Carcao
Publikováno v:
Blood. 140:5588-5590
Autor:
Caroline Malcolmson, Maria-Elena Lautatzis, Sarah Malkiel, Nina Lenherr-Taube, Jeffery Traubici, Abha Gupta, Sevan Hopyan, Etienne Sochett, Ronald Grant
Publikováno v:
Journal of Pediatric Hematology/Oncology. 44:e782-e787
Osteosarcoma is the most common pediatric malignant bone tumor. Concomitant osteoporosis has typically been attributed to oncologic therapy. The present case series is aimed to describe 3 patients who presented with osteoporosis or osteopenia before,
Autor:
Vanessa Bouskill, Manuel Carcao, Deirdre Tetzlaff, Caroline Malcolmson, Bryan Maguire, Cindy Wakefield
Publikováno v:
Haemophilia
Introduction The COVID‐19 pandemic has resulted in lifestyle changes for children. The aim of this study was to evaluate the impact of the pandemic on weight/BMI in children with severe bleeding disorders. Methods We conducted a retrospective revie
Autor:
Alessandra Bosch, Salmas Watad, Shannon Willmott, Nicole K. McKinnon, Caroline Malcolmson, Melanie Kirby
Publikováno v:
Journal of pediatric hematology/oncology. 44(5)
Fat embolism syndrome after bone marrow necrosis is an extremely rare complication in sickle cell disease associated with significant morbidity and mortality. A high index of suspicion is required for diagnosis. This case report will assist pediatric
Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100741-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
We report a 9-year-old boy with lysinuric protein intolerance (LPI). He had developmental delay, short stature, failure to thrive, high-protein food aversion, hypothyroidism, growth hormone deficiency, features of hemophagocytic lymphohistiocytosis (
Autor:
Michael J. Bush, Shelley R. Hepworth, Mingli Xu, Sabine Zachgo, Catherine DeLong, Pierre R. Fobert, Madiha Khan, Jhadeswar Murmu, Shutian Li, Caroline Malcolmson
Publikováno v:
Plant Physiology. 154:1492-1504
ROXY1 and ROXY2 are CC-type floral glutaredoxins with redundant functions in Arabidopsis (Arabidopsis thaliana) anther development. We show here that plants lacking the basic leucine-zipper transcription factors TGA9 and TGA10 have defects in male ga
Publikováno v:
Journal of Clinical Case Reports.
Neuromuscular choristomas are rare tumors that usually occur in the first decade of life. They most commonly involve large nerves such as the sciatic and brachial plexus. We report a case of a 4 year old girl with a neuromuscular choristoma of the ce
Autor:
Jillian Schina, Niranjan Kissoon, Peter Tilley, Caroline Malcolmson, Shevaun Hughes, Karen Ng, Ashley Roberts
Publikováno v:
Journal of the Pediatric Infectious Diseases Society. :piw033
Background. Early definitive identification of infectious pathogens coupled with antimicrobial stewardship interventions allow for targeted and timely administration of antimicrobials. We investigated the combined impact of matrix-assisted laser deso