[PDF] Top 20 New Developments in Screening for Inborn Errors of Metabolism
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New Developments in Screening for Inborn Errors of Metabolism
... Experience with the prototype, the phenylketonuria (PKU) program, dictates that mass screening for in- born errors of metabolism is here to stay and will most cer[r] ... See full document
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Uric acid, an important screening tool to detect inborn errors of metabolism: a case series
... purine metabolism comprise a group of disorders with very variable clinical ...in screening especially when expensive techniques may not be available for the detec- tion for inborn errors of ... See full document
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Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department
... Objective: Our study aimed to estimate the frequency of inborn errors of metabolism (IEMs) in patients presenting with acute encephalopathy-like picture at an emergency department (ED). Subjects and ... See full document
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Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications
... 23 inborn errors of metabolism by electrospray ionization- ...the screening program was estimated by 1) complete ascertainment of all positive tests; 2) definite assignment of all diagnoses ... See full document
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Clinical-effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review
... the screening of PKU alone could not be ...of screening for MCAD deficiency as part of a neona- tal screening program for PKU using tandem MS would be economically ...deficiency screening ... See full document
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Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China
... The patients in this study were all symptomatic at screening, and most of them were beyond the neonatal period. Because mental retardation and motor delay are difficult to reverse in older patients with IEM, it is ... See full document
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Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical Need
... As of 2016, 35 states had passed legislative mandates for state or private payer coverage of medical foods. 19 Such coverage, mandated on a state-by-state basis, does not apply to those who are self-insured or where ... See full document
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Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
... genetic screening of high school students by DNA molecular testing should be performed to identify carriers for the most common disorders in the Saudi ...molecular screening can help couples, who carry the ... See full document
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Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism
... Yet, the vast majority of the population depends exclu- sively on the public health system (SUS), which was cre- ated by the Brazilian Federal Constitution in 1988 and is organized by the Ministry of Health, with ... See full document
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Failure to Thrive: When to Suspect Inborn Errors of Metabolism
... intake, low muscle tone, nystagmus, and liver dysfunction was referred to our metabolic clinic. The medical history revealed that the patient had an elevated tyrosine level de- tected through newborn screening. ... See full document
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Incidence of Inborn Errors of Metabolism in British Columbia, 1969–1996
... population screening of newborns or at-risk popula- ...by screening for either very long chain fatty acids or bile acids in blood ...enzyme screening approach (see chapter 4 in Applegarth et al 25 ... See full document
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Therapies for Inborn Errors of Metabolism: What Has the Orphan Drug Act Delivered?
... HbA1C, screening for diabetic retinopathy, control of blood pressure, and screening for cervical cancer were studied with yearly ...cancer screening, performance decreased 3% per year on average for ... See full document
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Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis
... idation defects may be considered. Ammonia levels in newborns with these conditions frequently exceed 1000 m mol/L. The finding of marked hyperammone- mia provides an important clue to diagnosis and indicates the need ... See full document
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Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents
... Processing fluency - defined as the subjective ease with which an individual is able to process new external in- formation - constitutes an important determinant of pa- tient motivation, self-management and ... See full document
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Progression of Neurovisceral Storage Disease With Supranuclear Ophthalmoplegia Following Orthotopic Liver Transplantation
... A number of inborn errors of metabolism have now been successfully corrected by organ trans- plantation, offering new hope for patients suffering from these disorders.’ We recently had t[r] ... See full document
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Genome editing for inborn errors of metabolism: advancing towards the clinic
... Elucidation of the mechanisms by which Cas9 targets and binds DNA has led to engineering of novel Cas9 vari- ants with improved range or improved specificity. By ma- nipulating the PAM recognition domain, Cas9 variants ... See full document
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A proteomic approach to the study of inborn errors of metabolism
... The QTOF mass spectrometer has a major advantage over other types o f mass spectrometers because it acquires sequence information rapidly and simultaneously for all peptides present in a proteolytic digest. The high ... See full document
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Original Article Application of high-throughput sequencing technologies with target capture/target next-generation sequencing in diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
... Target NGS combined the second generation sequencing technology with the target sequ- ence capture technology. Recently, this tech- nology has been studied in several specific phenotype diseases. Ma et al., described ... See full document
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The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome
... Since ORC1 is highly expressed in the brain and in par- ticular in astrocytes, one could speculate that an 7absent or dysfunctional protein may affects the metabolism of neurons and of glial cells. Hyperammonemia ... See full document
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GENES, MEDICINE AND SOCIETY: FROM PAEDIATRICS TO GENETIC COUNSELLING AND BEYOND
... The ethical, legal, social and religious implications of ‘New Genetics’ and ‘Personal Genomics’ must be carefully evaluated and debated. The Ministry of Health of Malaysia announced plans to screen the population ... See full document
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