Results 111 to 120 of about 198,582 (348)

Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]

, 2006
Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core   +1 more source

“Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing

Journal of Inherited Metabolic Disease, 2018
Exome wide sequencing techniques have revolutionized molecular diagnostics in patients with suspected inborn errors of metabolism or neuromuscular disorders.
Laura S. Kremer, S. Wortmann, H. Prokisch   +2 more
semanticscholar   +1 more source

A perilous path: the inborn errors of sphingolipid metabolism

Journal of Lipid Research, 2019
The sphingolipid (SL) metabolic pathway generates structurally diverse lipids that have roles as membrane constituents and as bioactive signaling molecules.
T. Dunn, C. Tifft, R. Proia
semanticscholar   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Health service use and predictors of high health service use among adults experiencing homelessness: a retrospective cohort study

Australian and New Zealand Journal of Public Health, Volume 46, Issue 6, Page 896-902, December 2022., 2022
Abstract Objective: To describe the characteristics and cost of health service use of a cohort of 2,140 people attending homeless hostel clinics, and identify predictors of high health service use and time to readmission. Method: A retrospective cohort study of 2,140 adults who attended a homeless hostel clinic and were hospitalised in New South Wales (
Rebecca J. Mitchell, Eyal Karin, Joseph Power, Hayden Foung, Naidene Jones, Olav Nielssen   +5 more
wiley   +1 more source

Network-based confidence scoring system for genome-scale metabolic reconstructions [PDF]

arXiv, 2010
Reliability on complex biological networks reconstructions remains a concern. Although observations are getting more and more precise, the data collection process is yet error prone and the proofs display uneven certitude. In the case of metabolic networks, the currently employed confidence scoring system rates reactions according to a discretized ...
arxiv  

INBORN ERRORS OF METABOLISM

Nutrition Reviews, 2009
Abstract Understanding metabolic disease can be difficult in its own right. Under stressful situations such as those involving a sick infant, it becomes much more difficult. This resource is a talk whose purpose is to provide a simple framework with which to expeditiously diagnose a sick child who has a metabolic disorder.
openaire   +5 more sources

Dysmorphology of inborn errors of metabolism [PDF]

Molecular Cytogenetics, 2014
As we discover the molecular mechanism of disorders, eventually all dysmorphic syndromes will ultimately be considered biochemical defects. An overview on the recognition and classification of dysmorphic features will be provided. Categories of inborn errors of metabolism associated with dysmorphic manifestations will be discussed. For e.g.
openaire   +3 more sources

Inborn errors of enzymes in glutamate metabolism

Journal of Inherited Metabolic Disease, 2019
Glutamate is involved in a variety of metabolic pathways. We reviewed the literature on genetic defects of enzymes that directly metabolise glutamate, leading to inborn errors of glutamate metabolism.
Lynne Rumping, Esmee Vringer, R. Houwen, P. V. van Hasselt, J. Jans, N. Verhoeven-Duif   +5 more
semanticscholar   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source