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Inborn Errors of Metabolism

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161. GlycoCholic Acid Treatment for Patients With Inborn Errors in Bile Acid Synthesis

that not approved by the United States Food and Drug Administration (FDA) and is being provided to you under an Investigational New Drug application from the FDA. Condition or disease Intervention/treatment Phase Bile Acid Synthesis Defect Inborn Error of Bile Acid Metabolism Inborn Error of Bile Acid Conjugation Drug: Glycocholic Acid Phase 3 Detailed Description: Inborn errors of bile acid metabolism have been established as a well recognized cause of neonatal cholestasis and fat-soluble vitamin malabsorption (...) GlycoCholic Acid Treatment for Patients With Inborn Errors in Bile Acid Synthesis GlycoCholic Acid Treatment for Patients With Inborn Errors in Bile Acid Synthesis - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding

2012 Clinical Trials

162. Open Label, Continuation Study of Cholic Acid in Subjects With Inborn Errors of Bile Acid Synthesis

: September 22, 2011 Last Update Posted: August 16, 2016 Last Verified: August 2016 Keywords provided by Retrophin, Inc.: Cholic Acid Inborn Error Bile Acid Metabolism Inborn Error of Bile Acid Synthesis Additional relevant MeSH terms: Layout table for MeSH terms Bile Acids and Salts Cholic Acids Gastrointestinal Agents (...) Open Label, Continuation Study of Cholic Acid in Subjects With Inborn Errors of Bile Acid Synthesis Open Label, Continuation Study of Cholic Acid in Subjects With Inborn Errors of Bile Acid Synthesis - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please

2011 Clinical Trials

163. Decreased C'1q protein concentration and agglutinating activity in agammaglobulinaemia syndromes: an inborn error reflected in the complement system (PubMed)

R A RA eng Journal Article England Clin Exp Immunol 0057202 0009-9104 9007-36-7 Complement System Proteins IM Agammaglobulinemia immunology Agglutination Agglutination Tests Chemical Precipitation Complement System Proteins analysis biosynthesis Hemolysis Humans Metabolism, Inborn Errors 1968 6 1 1968 6 1 0 1 1968 6 1 0 0 ppublish 5662582 PMC1578905 J Exp Med. 1966 Jan 1;123(1):191-204 5902569 J Exp Med. 1966 Jan 1;123(1):75-102 5323079 Immunology. 1966 Jan;10(1):87-98 4160336 Lancet. 1966 Jun (...) Decreased C'1q protein concentration and agglutinating activity in agammaglobulinaemia syndromes: an inborn error reflected in the complement system 5662582 1968 09 06 2018 11 13 0009-9104 3 5 1968 Jun Clinical and experimental immunology Clin. Exp. Immunol. Decreased C'-1q protein concentration and agglutinating activity in agammaglobulinaemia syndromes: an inborn error reflected in the complement system. 437-45 Gewurz H H Pickering R J RJ Christian C L CL Snyderman R R Mergenhagen S E SE Good

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1968 Clinical and experimental immunology

164. Leigh's encephalomyelopathy: an inborn error of gluconeogenesis. (PubMed)

Epinephrine IM Animals Blood Glucose analysis Brain Diseases etiology Carbohydrate Metabolism, Inborn Errors complications Carboxy-Lyases metabolism Epinephrine pharmacology Glucagon metabolism Gluconeogenesis Glucose Tolerance Test Humans Infant Lactates blood Liver enzymology Male Phosphotransferases metabolism Pyruvates blood Rats Thioctic Acid therapeutic use 1968 8 1 1968 8 1 0 1 1968 8 1 0 0 ppublish 4873809 PMC2019984 Arch Dis Child. 1965 Oct;40(213):492-501 5829993 Helv Paediatr Acta. 1965 Jul;20 (...) Leigh's encephalomyelopathy: an inborn error of gluconeogenesis. 4873809 1968 09 05 2018 11 13 1468-2044 43 230 1968 Aug Archives of disease in childhood Arch. Dis. Child. Leigh's encephalomyelopathy: an inborn error of gluconeogenesis. 423-6 Hommes F A FA Polman H A HA Reerink J D JD eng Journal Article England Arch Dis Child 0372434 0003-9888 0 Blood Glucose 0 Lactates 0 Pyruvates 73Y7P0K73Y Thioctic Acid 9007-92-5 Glucagon EC 2.7.- Phosphotransferases EC 4.1.1.- Carboxy-Lyases YKH834O4BH

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1968 Archives of Disease in Childhood

165. Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant (PubMed)

Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant Recurrent vomiting without apparent cause should alert the physician to the possibility of a disorder of ammonia metabolism. Crystalluria in a three-month-old male infant with a history of intermittent vomiting since birth and incipient coma led to the discovery of orotic aciduria. A diagnosis of ornithine carbamyl transferase (OCT) deficiency was derived from

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1972 Canadian Medical Association Journal

166. Assessing Cardiac Metabolism

Assessing Cardiac Metabolism Assessing Cardiac Metabolism | Circulation Research Search Hello Guest! Login to your account Email Password Keep me logged in Search March 2019 March 2019 February 2019 February 2019 January 2019 January 2019 This site uses cookies. By continuing to browse this site you are agreeing to our use of cookies. Free Access article Share on Jump to Free Access article Assessing Cardiac Metabolism A Scientific Statement From the American Heart Association , MD, DPhil, FAHA (...) reactions, the heart converts chemical energy to mechanical energy. Energy transfer is achieved through coordinated activation of enzymes, ion channels, and contractile elements, as well as structural and membrane proteins. The heart’s needs for energy are difficult to overestimate. At a time when the cardiovascular research community is discovering a plethora of new molecular methods to assess cardiac metabolism, the methods remain scattered in the literature. The present statement on “Assessing

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2016 American Heart Association

167. Association Between Newborn Metabolic Profiles and Pediatric Kidney Disease (PubMed)

Association Between Newborn Metabolic Profiles and Pediatric Kidney Disease Metabolomics offers considerable promise in early disease detection. We set out to test the hypothesis that routine newborn metabolic profiles at birth, obtained through screening for inborn errors of metabolism, would be associated with kidney disease and add incremental information to known clinical risk factors.We conducted a population-level cohort study in Ontario, Canada, using metabolic profiles from 1,288,905

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2018 Kidney international reports

168. Inherited disorders of cobalamin metabolism disrupt nucleocytoplasmic transport of mRNA through impaired methylation/phosphorylation of ELAVL1/HuR (PubMed)

related to the subcellular mislocalization of several RNA binding proteins, including the ELAVL1/HuR protein implicated in neuronal stress, in this cell model and in patient fibroblasts with inborn errors of cobalamin metabolism and Cd320 knockout mice. The decreased interaction of ELAVL1/HuR with the CRM1/exportin protein of the nuclear pore complex and its subsequent mislocalization resulted from hypomethylation at R-217 produced by decreased S-adenosylmethionine and protein methyl transferase CARM1 (...) with the effects of inborn errors of Cbl metabolisms on brain development, neuroplasticity and myelin formation.

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2018 Nucleic acids research

169. Inherited Metabolic Disorders: Implications for the Obstetrician-Gynecologist. (PubMed)

Inherited Metabolic Disorders: Implications for the Obstetrician-Gynecologist. Inherited metabolic disorders, or inborn errors of metabolism, can result in significant morbidity and mortality. Advances in genetic testing, including newborn screening and prenatal carrier screening, continue to increase awareness and highlight the importance of these conditions. Increasingly, women born with these conditions are surviving to adulthood, and many become pregnant. The practicing obstetrician (...) -gynecologist should be familiar with the most common and the most relevant inherited metabolic disorders affecting women.The objective of this review is to define inherited metabolic disorders that have relevance to the obstetrician-gynecologist. We discuss the diagnosis, presentation, epidemiology, and special concerns to the obstetrician-gynecologist managing patients affected by these conditions.A MEDLINE search of "inherited metabolic disorders" and "inborn errors of metabolism" and specific conditions

2018 Obstetrical & Gynecological Survey

170. Gestational dating by metabolic profile at birth: a California cohort study (PubMed)

as born preterm, which has both short- and long-term clinical care and public health implications.We sought to evaluate whether metabolic markers in newborns measured as part of routine screening for treatable inborn errors of metabolism can be used to develop a population-level metabolic gestational dating algorithm that is robust despite intrauterine growth restriction and can be used when fetal ultrasound dating is not available. We focused specifically on the ability of these markers (...) Gestational dating by metabolic profile at birth: a California cohort study Accurate gestational dating is a critical component of obstetric and newborn care. In the absence of early ultrasound, many clinicians rely on less accurate measures, such as last menstrual period or symphysis-fundal height during pregnancy, or Dubowitz scoring or the Ballard (or New Ballard) method at birth. These measures often underestimate or overestimate gestational age and can lead to misclassification of babies

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2016 EvidenceUpdates

171. NGS for Metabolic Disease Diagnosis (PubMed)

NGS for Metabolic Disease Diagnosis 30479609 2018 12 07 1650-3414 29 3 2018 Nov EJIFCC EJIFCC NGS for Metabolic Disease Diagnosis. 227-229 Yubero Dèlia D Department of Genetics and Molecular Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. Artuch Rafael R Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, and CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain. eng Journal Article 2018 11 07 Italy EJIFCC 101092742 1650-3414 inborn errors (...) of metabolism next generation sequencing 2018 11 28 6 0 2018 11 28 6 0 2018 11 28 6 1 epublish 30479609 PMC6247130 PLoS One. 2016 May 31;11(5):e0156359 27243974 BMC Genet. 2017 Feb 14;18(1):14 28193154 Neurotherapeutics. 2013 Apr;10(2):262-72 23269496 Arch Dis Child. 2017 Nov;102(11):1019-1029 28468868 PLoS One. 2017 Feb 2;12(2):e0170843 28152038 BMC Med Genet. 2013 Nov 11;14:118 24215330 Trends Biochem Sci. 2017 Oct;42(10):824-843 28927698 Clin Genet. 2016 Mar;89(3):275-84 26283276

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2018 EJIFCC

172. The Impact of Phosphate Metabolism on Healthy Aging

Metabolism Disorders Vitamin D Deficiency Avitaminosis Deficiency Diseases Malnutrition Nutrition Disorders Phosphorus Metabolism Disorders Hypophosphatemia, Familial Renal Tubular Transport, Inborn Errors Kidney Diseases Urologic Diseases Metal Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn Urological Manifestations Signs and Symptoms (...) The Impact of Phosphate Metabolism on Healthy Aging The Impact of Phosphate Metabolism on Healthy Aging - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. The Impact of Phosphate Metabolism on Healthy Aging

2018 Clinical Trials

173. Inborn error of metabolism

Inborn error of metabolism Inborn errors of metabolism - Wikipedia Inborn errors of metabolism From Wikipedia, the free encyclopedia (Redirected from ) Inborn errors of metabolism Inborn errors of metabolism form a large class of involving disorders of . The majority are due to defects of single that code for that facilitate conversion of various substances ( ) into others ( ). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal (...) function, or to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders . The term inborn errors of metabolism was coined by a British physician, (1857–1936), in 1908. He is known for work that prefigured the , based on his studies on the nature and inheritance of . His seminal text, Inborn Errors of Metabolism was published in 1923. Contents Classification [ ] Traditionally

2012 Wikipedia

174. Oncometabolites: A New Paradigm for Oncology, Metabolism, and the Clinical Laboratory. (PubMed)

Oncometabolites: A New Paradigm for Oncology, Metabolism, and the Clinical Laboratory. Pediatric clinical laboratories commonly measure tricarboxylic acid cycle intermediates for screening, diagnosis, and monitoring of specific inborn errors of metabolism, such as organic acidurias. In the past decade, the same tricarboxylic acid cycle metabolites have been implicated and studied in cancer. The accumulation of these metabolites in certain cancers not only serves as a biomarker but also directly (...) contributes to cellular transformation, therefore earning them the designation of oncometabolites.D-2-hydroxyglutarate, L-2-hydroxyglutarate, succinate, and fumarate are the currently recognized oncometabolites. They are structurally similar and share metabolic proximity in the tricarboxylic acid cycle. As a result, they promote tumorigenesis in cancer cells through similar mechanisms. This review summarizes the currently understood common and distinct biological features of these compounds. In addition

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2017 Clinical Chemistry

175. Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism. (PubMed)

stones that result in recurrent nephrolithiasis and less frequently nephrocalcinosis.We report a case of a 10-month-old patient diagnosed with urolithiasis. Screening of inborn errors of metabolism, including the performance of GC/MS urine organic acid profiling and HPLC amino acid profiling, showed abnormalities, which suggested deficiency of GRHPR enzyme. Additional metabolic disturbances observed in the patient led us to seek other genetic determinants and the elucidation of these findings (...) Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism. Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a consequence of deficient enzyme activity, excessive amounts of oxalate and L-glycerate are excreted in the urine, and are a source for the formation of calcium oxalate

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2017 BMC Medical Genetics

176. Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis (PubMed)

is in the decreased-deficient fumaric acid production in the course of UC in UCDs that causes several sequentially intertwined metabolic disturbances with final result of liver iron overload. The presented hypothesis could be easily tested by examining the patients suffering from UCDs, for liver iron overload. This could be easily performed in countries with a high population and comprehensive national register for inborn errors of metabolism.Providing the hypothesis is correct, neonatal liver damage in patients (...) Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis The underlying pathophysiology of liver dysfunction in urea cycle disorders (UCDs) is still largely elusive. There is some evidence that the accumulation of urea cycle (UC) intermediates are toxic for hepatocyte mitochondria. It is possible that liver injury is directly caused by the toxicity of ammonia. The rarity of UCDs, the lack of checking of iron level in these patients, superficial

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2017 World Journal of Gastroenterology

177. Disorders of metal metabolism (PubMed)

, on the other hand, is strictly speaking a nonmetal, although given its chemical properties between those of metals and nonmetals, it is sometimes considered a metalloid. In this review, we summarize the current knowledge on the inborn errors of metal and metalloid metabolism. (...) Disorders of metal metabolism Trace elements are chemical elements needed in minute amounts for normal physiology. Some of the physiologically relevant trace elements include iodine, copper, iron, manganese, zinc, selenium, cobalt and molybdenum. Of these, some are metals, and in particular, transition metals. The different electron shells of an atom carry different energy levels, with those closest to the nucleus being lowest in energy. The number of electrons in the outermost shell determines

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2017 Translational Science of Rare Diseases

178. Milk as a Recovery Beverage After Exercise for Improving Metabolic Health

Individual Participant Data (IPD) Sharing Statement: Plan to Share IPD: No Layout table for additional information Studies a U.S. FDA-regulated Drug Product: No Studies a U.S. FDA-regulated Device Product: No Additional relevant MeSH terms: Layout table for MeSH terms Hyperlipidemias Hyperlipoproteinemia Type IV Dyslipidemias Lipid Metabolism Disorders Metabolic Diseases Lipid Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn Hyperlipoproteinemias Hypertriglyceridemia (...) Milk as a Recovery Beverage After Exercise for Improving Metabolic Health Milk as a Recovery Beverage After Exercise for Improving Metabolic Health - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Milk

2017 Clinical Trials

179. Elucidation of the Complex Metabolic Profile of Cerebrospinal Fluid Using an Untargeted Biochemical Profiling Assay (PubMed)

Elucidation of the Complex Metabolic Profile of Cerebrospinal Fluid Using an Untargeted Biochemical Profiling Assay We sought to determine the molecular composition of human cerebrospinal fluid (CSF) and identify the biochemical pathways represented in CSF to understand the potential for untargeted screening of inborn errors of metabolism (IEMs). Biochemical profiles for each sample were obtained using an integrated metabolomics workflow comprised of four chromatographic techniques followed (...) with dihydropteridine reductase (DHPR) deficiency demonstrated the utility of untargeted global metabolic phenotyping as a broad assessment to screen samples from patients with undifferentiated phenotypes. The results indicate a single CSF sample processed with an integrated metabolomics workflow can be used to identify a large breadth of biochemicals that could be useful for identifying disrupted metabolic patterns associated with IEMs.Copyright © 2017 Elsevier Inc. All rights reserved.

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2017 Molecular genetics and metabolism

180. Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome (PubMed)

Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome Organic Acidurias (OA) accounts between 10% and 40% of confirmed Inborn Errors of Metabolism (IEM) in India. With prompt recognition and management, better survival but adverse neurodevelopmental outcome is reported.To study the clinical and metabolic presentation, management with immediate and long term outcome of symptomatic children with confirmed OA.Hospital based study (...) of symptomatic children diagnosed to have OA between 2003 and 2009 and the survivors followed up over next five years. Diagnosis was based on clinical and metabolic presentation and confirmed by spectrometry analyses of urine and blood. Management, immediate outcome, compliance to treatment and recurrence of crises were documented. Neurodevelopmental outcome was assessed in follow up. Mean with Standard Error (Mean ± SE) and frequencies with percentages were calculated.Of 72 cases suspected to have IEM, 38

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2017 Journal of clinical and diagnostic research : JCDR

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