[PDF] Top 20 A proteomic approach to the study of inborn errors of metabolism
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A proteomic approach to the study of inborn errors of metabolism
... accurate measurement of its molecular mass. Mass spectrometry can provide molecular mass measurements of glycoproteins with an accuracy o f approximately 0.1%. MALDI and ESI-MS can be used to record the spectra o f ... See full document
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Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002–2014)
... the study period, autopsy was mandatory for all in- fants who died at home), it is usually performed by a general pathologist and does not include microscopic studies and tests geared specifically to diagnosis of ... See full document
8
Evaluation of Immunization Rates and Safety Among Children With Inborn Errors of Metabolism
... To create the IEM population for assessing potential vaccine-related adverse events (defined as an emergency-department visit or a hos- pitalization), we included all IEM sub- jects meeting the ICD-9 code and med- ical ... See full document
10
Genome editing for inborn errors of metabolism: advancing towards the clinic
... devoid approach, triplex-forming pep- tide nucleic acids have mediated HDR repair, and when delivered via polymer nanoparticles with a donor tem- plate, enabled up to 4% gene editing in thalassemic mice ...in ... See full document
12
“Pattern of Prevalence of Congenital Anomalies and Its Association with Risk Factors- A Retrospective Study” by Aruna M, Saravana Kumar J, Dhanush P, Dr.Hephzibah Kirubamani N, India.
... ongenital anomalies are defined as structural defects, chromosomal abnormalities, inborn errors of metabolism and hereditary disease, diagnosed before, at, or after birth. 1 It is defined as ... See full document
5
Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents
... forms to all children attending their class for discussion with their parents. Inclusion criteria were informed con- sent by parents and child, sufficient command of German and absence of IEM in the family. Hence, this ... See full document
9
Inborn errors in the metabolism of glutathione
... The human gamma-glutamyl transpeptidase gene family is composed of at least seven different gene loci and sev- eral of them are located on the long arm of chromosome 22 [9]. Gamma-glutamyl transpeptidase is a heterodimer ... See full document
9
GENES, MEDICINE AND SOCIETY: FROM PAEDIATRICS TO GENETIC COUNSELLING AND BEYOND
... One major area of interest in medical genetics is the study of inborn errors of metabolism (IEM). Issues pertaining to the diagnosis and management of IEM in Malaysia include low awareness of ... See full document
8
Effectiveness of a Clinical Pathway for the Emergency Treatment of Patients With Inborn Errors of Metabolism
... to study the effects of the pathway was made 2 years after implementation; there- fore, all data were collected retrospectively, and ED staff members were unaware of the ...The study was limited to children ... See full document
7
Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism
... the study of oxidative stress pathways are one example of this type of research activity [3] as is the project involv- ing several Brazilian services, coordinated from Porto Alegre, aiming to better understand the ... See full document
8
Therapies for Inborn Errors of Metabolism: What Has the Orphan Drug Act Delivered?
... A Study That Shows They Make a Difference: A recent study published in the British Medical Journal (Lester H, Schmittdiel J, Selby J, et ...interesting study, they appear to make a difference in just ... See full document
8
Gene therapy for inborn errors of liver metabolism: progress towards clinical applications
... recent study has reported that, in the tumor tissue, the vector appeared to have integrated in a region rich in microRNA sequences on mouse chromosome 12 ... See full document
6
Metabolic Nutri Expert System: A Comprehensive Tool for Achieving Metabolic Control of Inborn Errors of Amino Acid Metabolism
... The main aim of this study was to develop a comprehensive nutritional planning expert system for inborn errors of amino acid metabolism (IEAAM). Metabolic Nutri-Expert System, integrated in ... See full document
5
Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review
... Despite our attempts to be as thorough as possible in this systematic review, we acknowledge the limitations of our study. Many of the IEMs listed are very rare diseases, with incidence ranging 1:10,000 (PKU) to ... See full document
14
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
... In this report, we describe the incidence of IEMs in a sin- gle tertiary center in the middle region of Saudi Arabia over more than a decade. We reported an incidence of 1:591 individuals, which is the highest incidence ... See full document
12
Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department
... All children included in the study were further investigated by tandem mass spectrometry (MS/MS). MS/MS technology expands the metabolic disorder screening panel (ie, the number of disorders that can be detected) ... See full document
6
Incidence of Inborn Errors of Metabolism in British Columbia, 1969–1996
... Conclusions. Our data provide a good estimate of metabolic disease incidence, for the disease groups sur- veyed, in a predominantly Caucasian population. Inci- dence data for metabolic diseases are hard to collect ... See full document
8
Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical Need
... and causing chronic anxiety about access to necessary treatments. Legislation has been introduced, advocates have spoken, professional organizations have provided expert opinion and recommendations, but the division of ... See full document
10
Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders
... multidisciplinary approach has been reported. [16–20] We hypothesized that such an approach might be a possibility to tackle the complexity of children and young adults with ...for inborn ... See full document
7
A study of Pharmacy of a Super Specialty Hospital with a View to Reduce the Prescription Errors
... Abstract:- Errors occurred at multiple care levels, including prescribing, initial pharmacy dispensation, hospitalization, and subsequent outpatient ...how errors can occur within a ...medication ... See full document
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