Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Emma Laureta"'
Publikováno v:
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine. 18(11)
Central hypoventilation is a rare cause of respiratory failure that has been associated with multiple underlying disorders, including congenital central hypoventilation syndrome, obesity hypoventilation syndrome, and several neuromuscular conditions.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6dc96b632e26203e5ea2edf4e571d579
https://pubmed.ncbi.nlm.nih.gov/35912694
https://pubmed.ncbi.nlm.nih.gov/35912694
Publikováno v:
Journal of Clinical Sleep Medicine. 18:2695-2698
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d1aacfd4efe6f99b865859757251df0a
https://doi.org/10.5664/jcsm.10148
https://doi.org/10.5664/jcsm.10148
Autor:
Bo Hoon Lee, Stella Deng, Claudia A. Chiriboga, Denise M. Kay, Obehioya Irumudomon, Emma Laureta, Leslie Delfiner, Simona O. Treidler, Yaacov Anziska, Ai Sakonju, Chelsea Kois, Osman Farooq, Kristin Engelstad, Alexandra Laurenzano, Katherine Hogan, Michele Caggana, Carlos A. Saavedra-Matiz, Colleen F. Stevens, Emma Ciafaloni
Publikováno v:
Neurology
Background and ObjectivesSpinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel in July 2018 largely on the basis of the availability and efficacy of newly approved disease-modifying therapies. New York State (NYS) started
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee873a2680827d73e98bae9d821331c5
https://pubmed.ncbi.nlm.nih.gov/35835557
https://pubmed.ncbi.nlm.nih.gov/35835557
Autor:
Kristin Engelstad, Colleen F. Stevens, Emma Laureta, Claudia A. Chiriboga, April Parker, Simona Treidler, Emma Ciafaloni, Leslie Delfiner, Michele Caggana, Denise M. Kay, Yaacov Anziska, Carlos A. Saavedra-Matiz, Osman Farooq, Ai Sakonju, Bo Hoon Lee, Sohail Malek, Virginia Sack, Wendy K. Chung
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(8)
Spinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel (RUSP) in July 2018, following FDA approval of the first effective SMA treatment, and demonstration of feasibility of high-throughput newborn screening using a primary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07cf1357c43ea64109310216c9601a58
https://pubmed.ncbi.nlm.nih.gov/32601389
https://pubmed.ncbi.nlm.nih.gov/32601389
Autor:
Ivan M. Pavkovic, Stephanie Enner, Sanjeev V. Kothare, Emma Laureta, James Schneider, Sanaya Hormozdyaran, Jennifer Milillo, Robin Varughese
Publikováno v:
Pediatric Neurology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06beaff353061627739f0c60db24c5be
https://doi.org/10.1016/j.pediatrneurol.2020.05.012
https://doi.org/10.1016/j.pediatrneurol.2020.05.012
Publikováno v:
Pediatric Emergency Care. 21:747-750
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2258a973b2312295f019b1c435887dbf
https://doi.org/10.1097/01.pec.0000186429.15259.a3
https://doi.org/10.1097/01.pec.0000186429.15259.a3
Publikováno v:
Pediatric neurology. 49(4)
Background Diabetic neuropathic cachexia is a rare and little understood variant of diabetic neuropathy. It predominantly affects men with type 2 diabetes mellitus in their sixth to seventh decades of life and is characterized by the subacute onset o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8b2966b695622483296773b631c245b
https://pubmed.ncbi.nlm.nih.gov/23932806
https://pubmed.ncbi.nlm.nih.gov/23932806
Publikováno v:
Headache. 49(7)
Mutations in the CACNA1A gene on chromosome 19 have been associated with a variety of clinical disorders, including familial hemiplegic migraine type 1 and episodic ataxia type 2 (EA2). We report a patient with 2 distinct attack types, one representi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83cfcbea5d82c292b836896e1264da1f
https://pubmed.ncbi.nlm.nih.gov/19486177
https://pubmed.ncbi.nlm.nih.gov/19486177
Publikováno v:
Pediatric emergency care. 25(2)
Abnormal arm posture or movements in a neonate may cause significant concern in a pediatric emergency department. This can be secondary to osteomyelitis, which may rarely present with asymmetric arm movements in the neonatal period. The diagnosis of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a15d447bf91c52ca664116e292ebeeb
https://pubmed.ncbi.nlm.nih.gov/19225376
https://pubmed.ncbi.nlm.nih.gov/19225376
Autor:
Muhammad Waseem, Emma Laureta
Publikováno v:
Pediatric emergency care. 23(10)
Children frequently visit emergency departments with asthma exacerbations. Many of these asthmatic children may have fever and/or pneumonia, but when associated with eosinophilia or evidence of vasculitis, other diagnoses should be considered. Churg-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a5212d673738932240ab9ee47a057f8
https://pubmed.ncbi.nlm.nih.gov/18090108
https://pubmed.ncbi.nlm.nih.gov/18090108