Results 61 to 70 of about 477,600 (368)
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, EarlyView.Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs +8 more
wiley +1 more source
Robust Face Morphing Attack Detection Using Fusion of Multiple Features and Classification Techniques [PDF]
arXiv, 2023 Face Recognition System (FRS) are shown to be vulnerable to morphed images of newborns. Detecting morphing attacks stemming from face images of newborn is important to avoid unwanted consequences, both for security and society. In this paper, we present a new reference-based/Differential Morphing Attack Detection (MAD) method to detect newborn morphing
arxiv
, 2003 Cadmium (Cd) is a well-known nephrotoxic environmental contaminant but there are indications that the developing nervous system might be even more sensitive to Cd than the kidneys in adults.
Eklund, Gunilla
core
Hypophosphatasia in the Newborn [PDF]
Archives of Disease in Childhood, 1963 Archives of Disease in ...
Lapatsanis, P. D., Todd, R. M.
openaire +4 more sources
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier +20 more
wiley +1 more source
Journal of Pediatric and Neonatal Individualized Medicine, 2018 Selected Lectures of the XXIV National Congress of the Italian Society of Neonatology (Società Italiana di Neonatologia, SIN); Rome (Italy); September 26-29, 2018 Guest Editor: Mauro Stronati LECT 1. FEEDING INTOLERANCE IN PRETERM INFANTS • A.
--- Various Authors
doaj +1 more source
Maternal and neonatal serum magnesium concentrations in neural tube defects pregnancies in Gorgan (North of Iran) - A case control study [PDF]
, 2010 Objective: Neural tube defects (NTD) comprise a group of congenital malformations that include spinabifida, anencephaly and encephalocele. Previous studies have reported the embryotoxic and teratogenic effects of Magnesium deficiency in animal models ...
Golalipour, M.J., Mansourian, A.R.
core
HPDL Variant Type Correlates With Clinical Disease Onset and Severity
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee +19 more
wiley +1 more source
Frontiers in Pediatrics, 2023 BackgroundBronchiolitis severity can be assessed using different clinical scores. Some of the most used are the Wang Bronchiolitis Severity Score (WBSS), the Kristjansson Respiratory Score (KRS), and the Global Respiratory Severity Score (GRSS ...
Domenico Umberto De Rose +5 more
doaj +1 more source
Estimation of the cranial capacity and brain weight of Iranian female newborns [PDF]
, 2006 Anthropological measurements such as brain weight and cranial capacity are of practical use for the evaluation the health of newborns and also as a basis for the cranium alterations in future years of life.
Golalipour, M.J., Hosseinpour, K.R.
core