Results 61 to 70 of about 1,448,973 (364)
Congenital muscular dystrophy: from muscle to brain. [PDF]
, 2016 Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G +7 more
core +1 more source
This Is Not a Myeloproliferative Neoplasm…
Pediatric Blood &Cancer, EarlyView.
Stephanie Juané Kennedy
wiley +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
The Journal of ExtraCorporeal TechnologyEarly cardiac surgery in neonates and infants with congenital heart disease has been performed since the middle to late years of the twentieth century.
Owens Richard +6 more
doaj +1 more source
The development of a new measure of quality of life for children with congenital cardiac disease [PDF]
, 2006 The purpose of the study was to develop a questionnaire measuring health-related R1 quality of life for children and adolescents with congenital heart disease, the ConQol, that would have both clinical and research applications.
Birks, Y +8 more
core +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Complex aortic valve repair in congenital patients: clinical feedback
Frontiers in PediatricsIntroductionIn the congenital population, particularly in young adults, the best strategy for aortic valve surgery has not been clearly established. This study investigates the mortality, perioperative morbidity and echocardiographic evolution of complex
Marie-Anne Barbier +7 more
doaj +1 more source
Congenital Chagas disease in a Bolivian newborn in Bergamo (Italy) [PDF]
, 2018 Chagas disease (CD) is an uncommon disease in Europe. Its epidemiology has changed because of mass migration from Latin America to Europe. Herein we describe a congenital case of CD in a Bolivian newborn in Bergamo, the main city of residence for the ...
Bargiggia, Graziano +6 more
core
Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients [PDF]
, 2012 Background: Objective techniques to assess the amelioration of vision in patients with impaired visual function are needed to standardize efficacy assessment in gene therapy trials for ocular diseases.
Bennett, Jean, M.D. +5 more
core +3 more sources
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
Annals 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