How to Trip Rapid Review

Step 1: Select articles relevant to your search (remember the system is only optimised for single intervention studies)

Step 2: press

Step 3: review the result, and maybe amend the or if you know better! If we're unsure of the overall sentiment of the trial we will display the conclusion under the article title. We then require you to tell us what the correct sentiment is.

4,163 results for

Inborn Errors of Metabolism

by
...
Alerts

Export results

Use check boxes to select individual results below

SmartSearch available

Trip's SmartSearch engine has discovered connected searches & results. Click to show

121. Inborn Errors of Metabolism

Inborn Errors of Metabolism Inborn Errors of Metabolism Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Inborn Errors of Metabolism (...) Inborn Errors of Metabolism Aka: Inborn Errors of Metabolism II. Labs: Metabolic disorders tested on Newborn Screen See III. Pathophysiology All Metabolism ( , and Protein) Path: Acetyl-CoA to Krebs Cycle Disrupted pathway results in build up of ketones Path: Glycogen (and fructose, galactose) to to pyruvate to actetyl-CoA (and Krebs Cycle) Disrupted pathway results in build-up of and ketones Brain may use ketones for fuel by 12-24 hours and in chronic elevations Metabolism Path: Fat to free s

2015 FP Notebook

122. Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. (PubMed)

Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. 6061291 1968 01 21 2018 11 13 1468-2044 42 225 1967 Oct Archives of disease in childhood Arch. Dis. Child. Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. 492-504 Oberholzer V G VG Levin B B Burgess E A EA Young W F WF eng Case Reports Journal Article England Arch Dis Child 0372434 0003-9888 0 Alkalies 0 Malonates 8W8T17847W Urea AYI8EX34EU Creatinine IM (...) Acidosis etiology Alkalies therapeutic use Brain metabolism Creatinine metabolism Female Humans Hydrogen-Ion Concentration Infant, Newborn Infant, Newborn, Diseases drug therapy metabolism Male Malonates blood cerebrospinal fluid urine Metabolic Clearance Rate Metabolism, Inborn Errors complications drug therapy metabolism Urea metabolism 1967 10 1 1967 10 1 0 1 1967 10 1 0 0 ppublish 6061291 PMC2019805 Biochem J. 1966 Dec;101(3):591-7 16742430 N Engl J Med. 1963 Jan 17;268:144-6 13969382 Lancet. 1962

Full Text available with Trip Pro

1967 Archives of Disease in Childhood

123. Evaluation of Immunization Rates and Safety Among Children With Inborn Errors of Metabolism. (PubMed)

Evaluation of Immunization Rates and Safety Among Children With Inborn Errors of Metabolism. Children with inherited metabolic disorders are a potential high-risk group for vaccine-preventable diseases, yet information regarding immunization rates and vaccine safety within this population is limited.Using Northern California Kaiser Permanente's electronic medical record, we identified children with inborn errors of metabolism from 1990 to 2007. We assessed immunization rates among infants (...) with inborn errors of metabolism born at Northern California Kaiser Permanente matched to healthy infants (1 to 20), comparing both vaccines received by 2 years of age and age at vaccination. We assessed postvaccination adverse events among children up to 18 years old with inborn errors of metabolism, separately comparing emergency-department visits and hospitalizations during postvaccine days 0 to 30 (primary) and days 0 to 14 (secondary).Comparing infants with inborn errors of metabolism (n = 77) versus

2011 Pediatrics

124. Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. (PubMed)

Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Mutations in genes that play fundamental roles in metabolic pathways have been found to also play a role in tumor development and susceptibility to cancer. At the same time, significant progress has been made in the treatment of patients with inborn errors of metabolism (IEM),(1) resulting in increased longevity and the unmasking of cancer predisposition, frequently hepatocellular carcinoma (...) , in these conditions. These patients offer a potential opportunity to deepen our understanding of how intermediary metabolism impacts tumorigenesis. We provide an overview from the perspective of cancers in patients affected with IEM and discuss how dysregulation of these specific metabolic pathways might contribute to the mechanisms of cancer development and treatment.Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Full Text available with Trip Pro

2011 American Journal of Human Genetics

125. Management of pregnancy in women with genetic disorders: part 2: inborn errors of metabolism, cystic fibrosis, neurofibromatosis type 1, and turner syndrome in pregnancy. (PubMed)

Management of pregnancy in women with genetic disorders: part 2: inborn errors of metabolism, cystic fibrosis, neurofibromatosis type 1, and turner syndrome in pregnancy. With early diagnosis and increasingly effective medical care, more women with genetic syndromes are undergoing pregnancy, often presenting challenges for providers. Each year more women with genetic disease reach childbearing age. Advances in assisted reproductive technology have enabled pregnancy in a cohort of woman who (...) disorder observed in the mother as well as risks related to her chronic disease status. In this article, the second of a 2-part series, we will review the key issues for managing women with various inborn errors of metabolism during pregnancy. Additionally, we will discuss the care of women with Turner syndrome, neurofibromatosis type 1, and cystic fibrosis.Obstetricians & Gynecologists and Family Physicians.After the completing the CME activity, physicians should be better able to classify

2011 Obstetrical & Gynecological Survey

126. Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. (PubMed)

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. An infant was investigated because of megaloblastic anaemia, atypical hemolytic uraemic syndrome, severe combined immune deficiency, elevated blood levels of homocysteine and methylmalonic acid, and a selective decreased synthesis of methylcobalamin in cultured fibroblasts.Exome sequencing was performed on patient genomic DNA.Two mutations were identified (...) previously been shown to affect enzyme activity. Both parents carry a single mutation and an unaffected sibling carries neither mutation. The combination of two mutations in the MTHFRD1 gene, predicted to have severe consequences, in the patient and their absence in the unaffected sibling, supports causality.This patient represents the first case of an inborn error of folate metabolism affecting the trifunctional MTHFD1 protein. This report reinforces the power of exome capture and sequencing

2011 Journal of Medical Genetics

127. Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate

Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate - 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 (...) . Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT01341379 Recruitment Status : Withdrawn (Lack of funding) First Posted : April 25, 2011 Last Update Posted : May 29, 2014 Sponsor: Children's Hospital of Philadelphia Collaborator

2011 Clinical Trials

128. The metabolism of 3alpha, 7alpha, 12alpha-trihydorxy-5beta-cholestan-26-oic acid in two siblings with cholestasis due to intrahepatic bile duct anomalies. An apparent inborn error of cholic acid synthesis. (PubMed)

The metabolism of 3alpha, 7alpha, 12alpha-trihydorxy-5beta-cholestan-26-oic acid in two siblings with cholestasis due to intrahepatic bile duct anomalies. An apparent inborn error of cholic acid synthesis. Studies were carried out in a family in which two children with cholestasis due to intrahepatic bile duct anomalies were shown to have increased amounts of the cholic acid precursor, 3alpha, 7alpha, 12alpha-trihydorxy-5beta-cholestan-26-oic acid (THCA). The metabolism of THCA was studied (...) in one of these patients after an intravenous injection of (3H)THCA, and the cause of the increased amounts of THCA in this condition was found to be due to a metabolic defect in the conversion of this compound into cholic acid. A small amount of (3H)cholic acid was also identified after (3H)THCA administration, confirming that this metabolic defect was incomplete. Varanic acid (3alpha, 7alpha, 12alpha, 24xi-tetrahydorxy-5beta-cholestan-26-oic acid), a metabolite of THCA, could not be identified

Full Text available with Trip Pro

1975 Journal of Clinical Investigation

129. Essential hypertension: inborn error of sodium metabolism? (PubMed)

Essential hypertension: inborn error of sodium metabolism? 5907260 1966 05 26 2018 11 13 0032-5473 42 485 1966 Mar Postgraduate medical journal Postgrad Med J Essential hypertension: inborn error of sodium metabolism? 148-52 Knudsen K D KD Dahl L K LK eng Journal Article England Postgrad Med J 0234135 0032-5473 9NEZ333N27 Sodium IM Animals Humans Hypertension etiology Metabolism, Inborn Errors Rats Sodium metabolism 1966 3 1 1966 3 1 0 1 1966 3 1 0 0 ppublish 5907260 PMC2466031 J Exp Med. 1963

Full Text available with Trip Pro

1966 Postgraduate medical journal

130. Lessons from Inborn Errors of Metabolism (PubMed)

Lessons from Inborn Errors of Metabolism 5333528 1967 03 04 2018 11 13 0035-9157 59 11 Part 1 1966 Nov Proceedings of the Royal Society of Medicine Proc. R. Soc. Med. Lessons from inborn errors of metabolism. 1157-62 Milne M D MD eng Journal Article Review England Proc R Soc Med 7505890 0035-9157 IM Humans Metabolism, Inborn Errors 75 1966 11 1 1966 11 1 0 1 1966 11 1 0 0 ppublish 5333528 PMC1901325 J Clin Invest. 1965 Mar;44:486-93 14271308 Pediatrics. 1952 Aug;10(2):169-80 12983120 J Lab Clin

Full Text available with Trip Pro

1966 Proceedings of the Royal Society of Medicine

131. Recent Developments in the Management and Prognosis of some Inborn Errors of Metabolism (PubMed)

Recent Developments in the Management and Prognosis of some Inborn Errors of Metabolism 6060716 1968 01 21 2018 11 13 0035-9157 60 11 Part 1 1967 Nov 01 Proceedings of the Royal Society of Medicine Proc. R. Soc. Med. Galactosaemia. 1155-7 Komrower G M GM eng Journal Article England Proc R Soc Med 7505890 0035-9157 0 Phosphates IM Child Chromosome Aberrations Chromosome Disorders Diet Therapy Electroencephalography Erythrocytes analysis Female Galactosemias Humans Infant, Newborn Intellectual

Full Text available with Trip Pro

1967 Proceedings of the Royal Society of Medicine

132. Recent Developments in the Management and Prognosis of some Inborn Errors of Metabolism (PubMed)

Recent Developments in the Management and Prognosis of some Inborn Errors of Metabolism 6060715 1968 01 21 2018 11 13 0035-9157 60 11 Part 1 1967 Nov 01 Proceedings of the Royal Society of Medicine Proc. R. Soc. Med. Phenylketonuria. 1152-5 Hudson F P FP eng Journal Article England Proc R Soc Med 7505890 0035-9157 0 Dietary Proteins 47E5O17Y3R Phenylalanine IM Diet Therapy Dietary Proteins Female Humans Infant, Newborn Infant, Newborn, Diseases diagnosis Intellectual Disability diagnosis (...) prevention & control Intelligence Intelligence Tests Male Mass Screening Phenylalanine metabolism Phenylketonurias diagnosis Pregnancy Pregnancy Complications prevention & control 1967 11 1 1967 11 1 0 1 1967 11 1 0 0 ppublish 6060715 PMC1902096 Nurs Outlook. 1966 Jan;14(1):40-2 5174870 J Pediatr. 1966 Aug;69(2):334-8 5946661 Am J Dis Child. 1967 Jan;113(1):2-5 6015902 Am J Dis Child. 1967 Jan;113(1):6-15 6015909 Am J Dis Child. 1967 Jan;113(1):16-21 6016173 Arch Dis Child. 1967 Apr;42(222):198-200

Full Text available with Trip Pro

1967 Proceedings of the Royal Society of Medicine

133. Recent Developments in the Management and Prognosis of some Inborn Errors of Metabolism (PubMed)

Recent Developments in the Management and Prognosis of some Inborn Errors of Metabolism 6060713 1968 01 21 2018 11 13 0035-9157 60 11 Part 1 1967 Nov 01 Proceedings of the Royal Society of Medicine Proc. R. Soc. Med. Familial hyperlipidaemias. 1147-9 Wolff O H OH eng Journal Article England Proc R Soc Med 7505890 0035-9157 0 Lipoproteins 0 Triglycerides IM Child Child, Preschool Diet Therapy Electrophoresis Female Heterozygote Homozygote Humans Hyperlipidemias genetics Lipid Metabolism, Inborn (...) Errors classification Lipoproteins blood Male Triglycerides blood 1967 11 1 1967 11 1 0 1 1967 11 1 0 0 ppublish 6060713 PMC1902119 N Engl J Med. 1967 Jan 19;276(3):148-56 contd 5334266 Am J Dis Child. 1964 Mar;107:267-76 14095113 J Lab Clin Med. 1965 Dec;66(6):912-26 5848022 J Med Genet. 1966 Dec;3(4):239-57 16175706 Arch Dis Child. 1957 Oct;32(165):404-12 13479145 Circulation. 1960 Nov;22:901-7 13790886 Trans Assoc Am Physicians. 1961;74:134-46 13859760 Lancet. 1961 Feb 11;1(7172):312-3 13762915

Full Text available with Trip Pro

1967 Proceedings of the Royal Society of Medicine

134. Recent Developments in the Management and Prognosis of some Inborn Errors of Metabolism (PubMed)

Recent Developments in the Management and Prognosis of some Inborn Errors of Metabolism 6060714 1968 01 21 2018 11 13 0035-9157 60 11 Part 1 1967 Nov 01 Proceedings of the Royal Society of Medicine Proc. R. Soc. Med. The prognosis and management of renal tubular disorders. 1149-52 Milne M D MD eng Journal Article England Proc R Soc Med 7505890 0035-9157 IM Acidosis, Renal Tubular therapy Cystinuria therapy Diabetes Insipidus therapy Diet Therapy Fanconi Syndrome therapy Female Hartnup Disease (...) therapy Homozygote Humans Hypophosphatemia, Familial therapy Male Prognosis Renal Aminoacidurias therapy Renal Tubular Transport, Inborn Errors therapy 1967 11 1 1967 11 1 0 1 1967 11 1 0 0 ppublish 6060714 PMC1902126 Q J Med. 1960 Jul;29:407-21 13770962 Ann Intern Med. 1963 Mar;58:523-8 13950771 Br J Urol. 1955 Dec;27(4):317-32 13276628 J Am Med Assoc. 1957 May 25;164(4):394-6 13415995 Q J Med. 1963 Apr;32:165-192 14031597 Lancet. 1961 Oct 21;2(7208):909-10 13879842 Am J Med. 1957 Sep;23(3):408-15

Full Text available with Trip Pro

1967 Proceedings of the Royal Society of Medicine

135. An Inborn Error of Potassium Metabolism in the Tomato, Lycopersicon esculentum (PubMed)

An Inborn Error of Potassium Metabolism in the Tomato, Lycopersicon esculentum A mutant of the tomato (Lycopersicon esculentum Mill.) was obtained through treatment of the seed with ethyl methane sulfonate. Its chief distinguishing characteristic is the requirement for an extraordinarily high K concentration in the medium (20 mm) if it is to develop without pronounced K deficiency symptoms, while the wild type grows without any such symptoms at 0.1 to 0.2 mm K. The lesion of the K-inefficient

Full Text available with Trip Pro

1978 Plant physiology

136. An Inborn Error of Metabolism with the Urinary Excretion of α-Hydroxy-Butyric Acid and Phenylpyruvic Acid (PubMed)

An Inborn Error of Metabolism with the Urinary Excretion of α-Hydroxy-Butyric Acid and Phenylpyruvic Acid 13534741 2000 07 01 2018 12 01 0003-9888 33 168 1958 Apr Archives of disease in childhood Arch. Dis. Child. An inborn error of metabolism with the urinary excretion of alpha-hydroxy-butyric acid and phenylpyruvic acid. 109-13 SMITH A J AJ STRANG L B LB eng Journal Article England Arch Dis Child 0372434 0003-9888 0 Butyrates 0 Ketone Bodies 0 Phenylpyruvic Acids X7CO62M413 phenylpyruvic

Full Text available with Trip Pro

1958 Archives of Disease in Childhood

137. The Expanding Pattern of the Inborn Errors of Metabolism (PubMed)

The Expanding Pattern of the Inborn Errors of Metabolism 13662730 2000 07 01 2018 12 01 0028-7091 35 7 1959 Jul Bulletin of the New York Academy of Medicine Bull N Y Acad Med The expanding pattern of the inborn errors of metabolism. 419-26 GUTMAN A B AB eng Journal Article United States Bull N Y Acad Med 7505398 0028-7091 OM Humans Metabolic Diseases Metabolism, Inborn Errors 5936:36771:340 METABOLIC DISEASES 1959 7 1 1959 7 1 0 1 1959 7 1 0 0 ppublish 13662730 PMC1806179 Science. 1959 Jan

Full Text available with Trip Pro

1959 Bulletin of the New York Academy of Medicine

138. Inborn Errors(?) of Metabolism (PubMed)

Inborn Errors(?) of Metabolism 13671404 2000 07 01 2018 11 30 0008-4409 81 3 1959 Aug 01 Canadian Medical Association journal Can Med Assoc J Inborn errors of metabolism. 188-9 BAKER H H eng Journal Article Canada Can Med Assoc J 0414110 0008-4409 OM Humans Metabolic Diseases Metabolism, Inborn Errors Names Terminology as Topic 5936:45539:340:378 METABOLIC DISEASES NOMENCLATURE 1959 8 1 1959 8 1 0 1 1959 8 1 0 0 ppublish 13671404 PMC1831195 Ann Surg. 1958 Oct;148(4):711-23; discussion 723-4

Full Text available with Trip Pro

1959 Canadian Medical Association Journal

139. Inborn Errors of Iodine Metabolism (PubMed)

Inborn Errors of Iodine Metabolism 13839492 1998 11 01 2018 12 01 0032-5473 36 1960 Jul Postgraduate medical journal Postgrad Med J Inborn errors of iodine metabolism. 425-9 TROTTER W R WR eng Journal Article England Postgrad Med J 0234135 0032-5473 9679TC07X4 Iodine OM Humans Hypothyroidism genetics Iodine metabolism HYPOTHYROIDISM/genetics IODINE/metabolism 1960 7 1 1960 7 1 0 1 1960 7 1 0 0 ppublish 13839492 PMC2481745 Lancet. 1958 Mar 22;1(7021):607-9 13515293 J Clin Endocrinol Metab. 1957

Full Text available with Trip Pro

1960 Postgraduate medical journal

140. Recent Developments in Inborn Errors of Metabolism (PubMed)

Recent Developments in Inborn Errors of Metabolism 13716368 1998 11 01 2018 11 30 0002-9572 50 1960 Nov American journal of public health and the nation's health Am J Public Health Nations Health Recent developments in inborn errors of metabolism. 1653-61 HSIA D Y DY eng Journal Article United States Am J Public Health Nations Health 1254075 0002-9572 OM Humans Metabolic Diseases Metabolism, Inborn Errors METABOLIC DISEASES 1960 11 1 1960 11 1 0 1 1960 11 1 0 0 ppublish 13716368 PMC1373530

Full Text available with Trip Pro

1960 American Journal of Public Health and the Nations Health

To help you find the content you need quickly, you can filter your results via the categories on the right-hand side >>>>