Results 11 to 20 of about 49,127 (197)

Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome [PDF]

open access: yesThe Journal of Pediatrics, 1985
An increasing number of reports indicate that patients with some inherited metabolic diseases may have symptoms resembling those of Reye syndrome. We describe two siblings who developed a Reye-like syndrome at ages 16 and 18 months, respectively, after a viral illness and salicylate therapy. Both had fasting hypoglycemia and hypoketonemia.
Bougnères, Pierre F.   +7 more
openaire   +4 more sources

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

open access: yesHepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan   +19 more
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

open access: yes, 2022
Hepatology, EarlyView.
Robert J. Fontana   +6 more
wiley   +1 more source

Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency

open access: yesCells, 2018
Mitochondrial fatty acid β-oxidation (FAO) is the primary pathway for fatty acid metabolism in humans, performing a key role in liver, heart and skeletal muscle energy homeostasis.
Alice J. Sharpe, Matthew McKenzie
doaj   +1 more source

Pontocerebellar Hypoplasia Type 2 and Reye-Like Syndrome

open access: yesJournal of Child Neurology, 2002
Pontocerebellar hypoplasia is an autosomal recessive syndrome with onset during the fetal period. Two subtypes of pontocerebellar hypoplasia have been described on the basis of clinical and neuropathologic criteria. Pontocerebellar hypoplasia type 2 is characterized by progressive microcephaly, early onset of extrapyramidal dyskinesia, and near absence
Sans-Fito, A   +4 more
openaire   +4 more sources

Reye Syndrome Associated with Vaccination with Live Virus Vaccines [PDF]

open access: yes, 1979
To determine whether vaccination with live virus vaccines may be etiologi cally related to Reye syndrome, we examined 404 cases reported to the Center for Disease Control.
Schonberger, Lawrence   +7 more
core   +1 more source

The oral mucosal and salivary microbial community of Behçet's syndrome and recurrent aphthous stomatitis. [PDF]

open access: yes, 2015
This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License, permitting all non-commercial use, distribution, and reproduction in any medium, provided the original work is ...
Bergmeier, LA   +9 more
core   +1 more source

Reye’s-like syndrome in 13-year-old child (a case report)

open access: yesZaporozhye Medical Journal, 2022
The article reviews the literature about classical and atypical Reye’s syndrome, discusses the causes that contribute to its occurrence, provides criteria for diagnosis with the presentation of a Reye’s-like syndrome case in the 13-year-old child. Reye’s syndrome is a dangerous pathological condition characterized by acute encephalopathy and fatty ...
O. M. Shulhai   +2 more
openaire   +4 more sources

Reye Syndrome

open access: yes, 2022
Tato bakalářská práce popisuje vzácné onemocnění zvané Reyův syndrom. Začátek práce pojednává o historii a četnosti výskytu onemocnění. Samostatná kapitola je věnována kyselině acetylsalicylové, která k tomuto onemocnění bezprostředně patří.
Konečná, Veronika
core  

The M, E, and N structural proteins of the severe acute respiratory syndrome coronavirus are required for efficient assembly, trafficking, and release of virus-like particles [PDF]

open access: yes, 2008
Copyright @ 2008 American Society for Microbiology.The production of virus-like particles (VLPs) constitutes a relevant and safe model to study molecular determinants of virion egress.
Kien, F.   +23 more
core   +1 more source

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