Results 211 to 220 of about 171,108,706 (279)

BMIPP Imaging in Out-of-Hospital Cardiac Arrest: Exercise-Induced Vasospastic Angina With Ventricular Fibrillation. [PDF]

open access: yesJACC Case Rep
Aikawa H   +7 more
europepmc   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach   +23 more
wiley   +1 more source

Out-of-Hospital Cardiac Arrest in Portugal - A Call for a Registry Project. [PDF]

open access: yesOpen Access Emerg Med
Caldeira P   +3 more
europepmc   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos   +5 more
wiley   +1 more source

Multimodal Prediction of Progression Toward Brain Death After Out-of-Hospital Cardiac Arrest. [PDF]

open access: yesJ Clin Med
Oh JH   +9 more
europepmc   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni   +19 more
wiley   +1 more source

A Child With Abnormal Ocular Ultrasound After Out-of-Hospital Cardiac Arrest. [PDF]

open access: yesJ Am Coll Emerg Physicians Open
Cousin VL, Barreau E, Charbel R.
europepmc   +1 more source

Pediatric Palliative Care Utilization Following Out-of-Hospital Cardiac Arrest at a Large US Quaternary Hospital. [PDF]

open access: yesChildren (Basel)
Gouda SR   +6 more
europepmc   +1 more source

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