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Inborn Errors of Metabolism

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141. Recent Developments in the Management and Prognosis of some Inborn Errors of Metabolism Full Text available with Trip Pro

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

1967 Proceedings of the Royal Society of Medicine

142. Recent Developments in the Management and Prognosis of some Inborn Errors of Metabolism Full Text available with Trip Pro

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

1967 Proceedings of the Royal Society of Medicine

143. Recent Developments in the Management and Prognosis of some Inborn Errors of Metabolism Full Text available with Trip Pro

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

1967 Proceedings of the Royal Society of Medicine

144. Recent Developments in the Management and Prognosis of some Inborn Errors of Metabolism Full Text available with Trip Pro

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

1967 Proceedings of the Royal Society of Medicine

145. Set of simple side-room urine tests for detection of inborn errors of metabolism. Full Text available with Trip Pro

Set of simple side-room urine tests for detection of inborn errors of metabolism. 4231911 1968 08 07 2018 11 13 0007-1447 2 5607 1968 Jun 22 British medical journal Br Med J Set of simple side-room urine tests for detection of inborn errors of metabolism. 745-9 Buist N R NR eng Journal Article England Br Med J 0372673 0007-1447 0 Glycosaminoglycans 0 Keto Acids 42HK56048U Tyrosine 789U1901C5 Copper 9DLQ4CIU6V Proline AIM IM Amino Acid Metabolism, Inborn Errors urine Copper urine (...) Glycosaminoglycans urine Glycosuria diagnosis Humans Infant Keto Acids urine Mass Screening Metabolism, Inborn Errors diagnosis urine Microscopy Proline urine Tyrosine urine Urine 1968 6 22 1968 6 22 0 1 1968 6 22 0 0 ppublish 4231911 PMC1991639 N Engl J Med. 1966 Feb 17;274(7):384-7 5903123 J Pediatr. 1966 Mar;68(3):351-60 4379218 J Chromatogr. 1965 Dec;20(3):624 5881209 Can Med Assoc J. 1966 Jul 16;95(3):89-95 5945986 Clin Chem. 1966 Sep;12(9):592-5 5917660 Blood. 1966 Oct;28(4):553-62 5923607 Metabolism. 1967

1968 British medical journal

146. Screening for inborn errors of metabolism. Full Text available with Trip Pro

Screening for inborn errors of metabolism. 5762636 1969 02 28 2008 11 20 0007-1447 1 5639 1969 Feb 01 British medical journal Br Med J Screening for inborn errors of metabolism. 266-7 eng Journal Article England Br Med J 0372673 0007-1447 AIM IM Costs and Cost Analysis Humans Mass Screening Metabolism, Inborn Errors diagnosis 1969 2 1 1969 2 1 0 1 1969 2 1 0 0 ppublish 5762636 PMC1982194

1969 British medical journal

147. Argininosuccinic Aciduria: An Inborn Error of Amino Acid Metabolism Full Text available with Trip Pro

Argininosuccinic Aciduria: An Inborn Error of Amino Acid Metabolism 14464548 1998 11 01 2018 12 01 0003-9888 36 1961 Dec Archives of disease in childhood Arch. Dis. Child. Argininosuccinic aciduria, an inborn error of amino acid metabolism. 622-32 LEVIN B B MACKAY H M HM OBERHOLZER V G VG eng Journal Article England Arch Dis Child 0372434 0003-9888 0 Succinates 94ZLA3W45F Arginine OM Arginine analogs & derivatives Argininosuccinic Aciduria Child Humans Infant Metabolic Diseases Succinates urine (...) ARGININE/related compounds METABOLIC DISEASES/in infancy and childhood SUCCINATES/urine 1961 12 1 1961 12 1 0 1 1961 12 1 0 0 ppublish 14464548 PMC2012826 J Neurochem. 1959 Jun;4(2):141-7 13665375 Nature. 1960 Oct 15;188:235-6 13777345 Metabolism. 1960 Mar;9:198-207 14413802 Hoppe Seylers Z Physiol Chem. 1957;309(4-6):219-20 13513014 Biochem J. 1939 Jan;33(1):90-109 16746890 Lancet. 1958 Jan 25;1(7013):182-7 13503250 Biochem J. 1960 Mar;74:550-61 13813436

1961 Archives of Disease in Childhood

148. Morquio-Ullrich's Disease: An Inborn Error of Metabolism? Full Text available with Trip Pro

Morquio-Ullrich's Disease: An Inborn Error of Metabolism? 21032395 2011 03 30 2018 11 13 0003-9888 37 195 1962 Oct Archives of disease in childhood Arch. Dis. Child. Morquio-Ullrich's Disease: An Inborn Error of Metabolism? 525-34 Dyggve H V HV Melchior J C JC Clausen J J eng Journal Article England Arch Dis Child 0372434 0003-9888 2010 10 30 6 0 1962 10 1 0 0 1962 10 1 0 1 ppublish 21032395 PMC2012915 Arch Dis Child. 1952 Oct;27(135):487-97 12986862 Ann Paediatr. 1954 Feb;182(2):107-26; contd

1962 Archives of Disease in Childhood

149. Inborn Errors of Metabolism Full Text available with Trip Pro

Inborn Errors of Metabolism 14001839 1998 11 01 2018 12 01 0035-9157 55 1962 Oct Proceedings of the Royal Society of Medicine Proc. R. Soc. Med. Recent work on phenylketonuria and maple syrup urine disease (leucinosis). 824-6 WOOLF L I LI eng Journal Article England Proc R Soc Med 7505890 0035-9157 OM Acid-Base Imbalance Amino Acid Metabolism, Inborn Errors Humans Maple Syrup Urine Disease Phenylketonurias MAPLE SYRUP URINE DISEASE PHENYLKETONURIA 1962 10 1 1962 10 1 0 1 1962 10 1 0 0 ppublish

1962 Proceedings of the Royal Society of Medicine

150. Inborn Errors of Iodine Metabolism Full Text available with Trip Pro

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

1960 Postgraduate medical journal

151. Recent Developments in Inborn Errors of Metabolism Full Text available with Trip Pro

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

1960 American Journal of Public Health and the Nations Health

152. Fructosaemia: An Inborn Error of Fructose Metabolism Full Text available with Trip Pro

Fructosaemia: An Inborn Error of Fructose Metabolism 13930101 1998 11 01 2018 12 01 0003-9888 38 1963 Jun Archives of disease in childhood Arch. Dis. Child. Fructosaemia: an inborn error of fructose metabolism. 220-30 LEVIN B B OBERHOLZER V G VG SNODGRASS G J GJ STIMMLER L L WILMERS M J MJ eng Journal Article England Arch Dis Child 0372434 0003-9888 30237-26-4 Fructose OM Carbohydrate Metabolism Fructose Fructose Intolerance Humans Metabolic Diseases CARBOHYDRATE METABOLISM FRUCTOSE METABOLIC (...) ):1189-94 13723917 Helv Paediatr Acta. 1961 Apr;16:90-6 13724616 Pediatrie. 1961;16:605-26 13790025 Metabolism. 1962 Jul;11:727-31 14479790

1963 Archives of Disease in Childhood

153. Homocystinuria: A new inborn error of Metabolism associated with Mental Deficiency Full Text available with Trip Pro

Homocystinuria: A new inborn error of Metabolism associated with Mental Deficiency 14065982 1996 12 01 2018 12 01 0003-9888 38 1963 Oct Archives of disease in childhood Arch. Dis. Child. HOMOCYSTINURIA: A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY. 425-36 CARSON N A NA CUSWORTH D C DC DENT C E CE FIELD C M CM NEILL D W DW WESTALL R G RG eng Journal Article England Arch Dis Child 0372434 0003-9888 0LVT1QZ0BA Homocysteine OM Amino Acid Metabolism, Inborn Errors Child

1963 Archives of Disease in Childhood

154. Living with inborn errors of cholesterol biosynthesis: lessons from adult patients. Full Text available with Trip Pro

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients. In the last decades, nine inherited errors of the distal part of cholesterol biosynthesis have been recognized. Affected patients present complex malformation syndromes involving different organs and systems with variable degrees of severity. We report on the phenotype evolution of three patients with enzymatic defects at three distinct steps of such pathway: Smith-Lemli-Opitz syndrome, X-linked dominant (...) chondrodysplasia punctata type 2 and congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome. The patients' natural history, from childhood to adulthood, is thoroughly described in order to contribute for a better knowledge of these diseases. Our ultimate goals are to contribute for a better characterization of the long-term course of these metabolic disorders and for the recognition of such diseases in older patients. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

2013 Clinical Genetics

155. 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

156. Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant Full Text available with Trip Pro

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

1972 Canadian Medical Association Journal

157. Decreased C'1q protein concentration and agglutinating activity in agammaglobulinaemia syndromes: an inborn error reflected in the complement system Full Text available with Trip Pro

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

1968 Clinical and experimental immunology

158. Leigh's encephalomyelopathy: an inborn error of gluconeogenesis. Full Text available with Trip Pro

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

1968 Archives of Disease in Childhood

159. Association Between Newborn Metabolic Profiles and Pediatric Kidney Disease Full Text available with Trip Pro

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

2018 Kidney international reports

160. Assessing Cardiac Metabolism Full Text available with Trip Pro

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

2016 American Heart Association

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