inborn errors
Effectiveness of a Clinical Pathway for the Emergency Treatment of Patients With Inborn Errors of Metabolism
... with inborn errors of metabolism in our urban, academic, pediatric emergency department, we compared measures of timeliness and effectiveness for patients treated before the pathway with the same measures ...
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Clinical spectrum of inborn errors of metabolism in children in a tertiary care hospital
... Background: Inborn Errors of Metabolism (IEM) are a group of disorders occurring due to disruption of normal biochemical ...of inborn errors of metabolism in a tertiary care hospital in South ...
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Diagnostic Advancement in Evaluating Inborn Errors of Metabolism: Past, Present and Future: A systematic review
... ‘Inborn errors of metabolism’, ‘Inborn metabolic disorder’, ‘history of IEM’, ‘diagnostic’, ‘incidence’, ‘advancement’, ‘technology’, ‘TMS and IEM’, Tandem mass spectrometry’, ‘Gas ...
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Metabolic Nutri Expert System: A Comprehensive Tool for Achieving Metabolic Control of Inborn Errors of Amino Acid Metabolism
... are inborn errors of amino acid (blocks of protein) metabolism (IEAAM), which are characterized by high blood concentration of one or more amino acids, and are assumed to result from deficient activity of ...
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Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents
... Inborn errors of metabolism (IEM) are a group of rare, heterogeneous genetic conditions typically affecting en- zyme functioning. Clinically, IEM often affect the central nervous system but also other ...
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Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism
... When we were asked to write about rare disease med- ical research and services in Brazil, we were at a cross- roads. If we opted for describing all components of the rare disease health system in the different cities of ...
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Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis
... hyperglutaminemia and hypoargininemia. Ornithine was an unsatisfactory substitute for arginine. Arginine deprivation did not interfere with carbamyl phosphate synthesis as manifested by orotic aciduria. It is concluded ...
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Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections
... single-gene inborn errors of innate or cell-intrinsic immunity can underlie enhanced sus- ceptibility to specific (viral) infections in otherwise healthy indi- viduals (15, ...monogenic inborn ...
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Uric acid, an important screening tool to detect inborn errors of metabolism: a case series
... Inherited defects of purine metabolism comprise a group of disorders with very variable clinical manifestations. Altered levels of serum and urine UA levels may con- stitute effective markers in screening especially when ...
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Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical Need
... Successful intervention for inborn errors of metabolism (IEMs) is a triumph of modern medicine. For many of these conditions, medical foods are the cornerstone of therapy and the only effective ...
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Special Diets for Infants With Inborn Errors of Amino Acid Metabolism
... Infants with certain inborn errors of amino acid metabolism can be treated with special diets that restrict one or more amino acids to the minimum essential for normal growth.. The princ[r] ...
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Gene therapy for inborn errors of liver metabolism: progress towards clinical applications
... Significant advances in the diagnosis and treatment of inborn errors of metabolism have occurred in recent years. Expanded newborn screening using tandem mass spectrometry has led to the ability to identify ...
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Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis
... the inborn errors of metabolism, including urea cycle defects, organic acidemias, and certain disor- ders of amino acid metabolism, present in the young infant with symptoms of an acute or chronic metabolic ...
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Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002–2014)
... Background: The literature suggests that 0.9 to 6% of infants who die unexpectedly may have had a metabolic disorder. At least 43 different inborn errors of metabolism (IEMs) have been associated with ...
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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 ...
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Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
... molecule IEMs have an acute intoxication presentation with a remitting-relapsing clinical course. These include organic acidemias, vitamin responsive disorders, urea cycle disorders, inborn errors of ...
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Malformation syndromes due to inborn errors of cholesterol synthesis
... Because some cholesterol precursors are biological- ly active, abnormally low or high concentrations of specific sterols may have functional consequences. For instance, 7-DHC is the precursor for vitamin D synthesis. The ...
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Inborn Errors of Metabolism: The Clinical Diagnosis in Early Infancy
... best known inborn errors of metabolism associated with hypoglycemia are the glycogen storage diseases of which types I (von Gierke disease or glucose-6- phosphatase deficiency) and III ([r] ...
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Therapies for Inborn Errors of Metabolism: What Has the Orphan Drug Act Delivered?
... groups, each with subgroups. Group 1 (disorders of metabolic intoxication) includes inborn errors of intermediate metabolism that lead to progressive accumulation of toxic products proxi- mal to the ...
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Genome editing for inborn errors of metabolism: advancing towards the clinic
... Inborn errors of metabolism (IEM) are genetic disorders typically caused by an enzyme deficiency. As a conse- quence of the defect, insufficient conversion of substrate into metabolic product occurs, which ...
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