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Inborn Errors of Metabolism

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141. Argininosuccinic Aciduria: An Inborn Error of Amino Acid Metabolism (PubMed)

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

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1961 Archives of Disease in Childhood

142. Inborn Errors of Metabolism (PubMed)

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

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1962 Proceedings of the Royal Society of Medicine

143. Morquio-Ullrich's Disease: An Inborn Error of Metabolism? (PubMed)

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

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1962 Archives of Disease in Childhood

144. Fructosaemia: An Inborn Error of Fructose Metabolism (PubMed)

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

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1963 Archives of Disease in Childhood

145. Homocystinuria: A new inborn error of Metabolism associated with Mental Deficiency (PubMed)

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

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1963 Archives of Disease in Childhood

146. Genetical theory and the "inborn errors of metabolism". (PubMed)

Genetical theory and the "inborn errors of metabolism". 4906700 1970 04 16 2018 11 13 0007-1447 1 5692 1970 Feb 07 British medical journal Br Med J Genetical theory and the "inborn errors of metabolism". 321-7 Harris H H eng Journal Article Review England Br Med J 0372673 0007-1447 9007-49-2 DNA AIM IM Alkaptonuria genetics Amino Acid Sequence DNA Hemoglobinopathies genetics Humans Metabolism, Inborn Errors genetics Molecular Biology Mutation 25 1970 2 7 1970 2 7 0 1 1970 2 7 0 0 ppublish

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1970 British medical journal

147. The formation of propionate from the side-chain of cholesterol in an infant with an inborn error in the metabolism of propionate. (PubMed)

The formation of propionate from the side-chain of cholesterol in an infant with an inborn error in the metabolism of propionate. 5472186 1970 12 08 2018 11 13 0264-6021 118 3 1970 Jul The Biochemical journal Biochem. J. The formation of propionate from the side-chain of cholesterol in an infant with an inborn error in the metabolism of propionate. 551-2 Mitropoulos K A KA Myant N B NB Gompertz D D eng Journal Article England Biochem J 2984726R 0264-6021 0 Propionates 97C5T2UQ7J Cholesterol EC (...) 6.- Ligases SAA04E81UX Coenzyme A IM Cholesterol metabolism Coenzyme A metabolism Humans Infant, Newborn Ligases metabolism Liver metabolism Male Metabolism, Inborn Errors metabolism Propionates metabolism 1970 7 1 1970 7 1 0 1 1970 7 1 0 0 ppublish 5472186 PMC1179225 Biochem J. 1966 Dec;101(3):632-5 16742436 Biochem J. 1965 Mar;94(3):594-603 16749071

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1970 Biochemical Journal

148. Set of simple side-room urine tests for detection of inborn errors of metabolism. (PubMed)

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

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1968 British medical journal

149. Screening for inborn errors of metabolism. (PubMed)

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

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1969 British medical journal

150. Inborn errors of metabolism in neurology (Wilson's disease, Refsum's disease and lipidoses). (PubMed)

Inborn errors of metabolism in neurology (Wilson's disease, Refsum's disease and lipidoses). 4101505 1971 05 26 2018 11 13 0035-9157 64 3 1971 Mar Proceedings of the Royal Society of Medicine Proc. R. Soc. Med. Inborn errors of metabolism in neurology (Wilson's disease, Refsum's disease and lipidoses). 313-22 Cumings J N JN eng Journal Article England Proc R Soc Med 7505890 0035-9157 0 Fatty Acids 0 Gangliosides 0CPP32S55X Dimercaprol 789U1901C5 Copper 97C5T2UQ7J Cholesterol EC 1.- Mixed (...) Function Oxygenases EC 1.16.3.1 Ceruloplasmin GNN1DV99GX Penicillamine IM Adolescent Adult Cerebral Cortex analysis Ceruloplasmin Cholesterol analysis Copper blood metabolism urine Dimercaprol therapeutic use Fatty Acids analysis blood cerebrospinal fluid metabolism Female Gangliosides metabolism Hepatolenticular Degeneration enzymology metabolism Humans Kidney analysis Lipidoses enzymology metabolism Liver analysis Male Metabolism, Inborn Errors Mixed Function Oxygenases metabolism Myocardium analysis

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1971 Proceedings of the Royal Society of Medicine

151. Inborn errors of metabolism. (PubMed)

Inborn errors of metabolism. 5110592 1971 12 16 2008 11 20 0008-1264 115 4 1971 Oct California medicine Calif Med Inborn errors of metabolism. 52-3 Nyhan W L WL eng Journal Article United States Calif Med 0410260 0008-1264 IM Humans Metabolism, Inborn Errors prevention & control therapy 1971 10 1 1971 10 1 0 1 1971 10 1 0 0 ppublish 5110592 PMC1517942

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1971 California Medicine

152. Phenylketonuria, the inborn errors of metabolism, and clinical research--1971. (PubMed)

Phenylketonuria, the inborn errors of metabolism, and clinical research--1971. 5566345 1971 10 28 2008 11 20 0008-1264 115 1 1971 Jul California medicine Calif Med Phenylketonuria, the inborn errors of metabolism, and clinical research--1971. 76-9 Epstein C J CJ eng Journal Article United States Calif Med 0410260 0008-1264 IM Female Humans Infant, Newborn Metabolism, Inborn Errors Phenylketonurias Pregnancy Research 1971 7 1 1971 7 1 0 1 1971 7 1 0 0 ppublish 5566345 PMC1517923

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1971 California Medicine

153. Inborn errors of metabolism: principles and their applications. (PubMed)

Inborn errors of metabolism: principles and their applications. 4551928 1972 05 22 2018 11 30 0008-4409 106 6 1972 Mar 18 Canadian Medical Association journal Can Med Assoc J Inborn errors of metabolism: principles and their applications. 677 passim Pinksy L L eng Journal Article Review Canada Can Med Assoc J 0414110 0008-4409 0 Vitamins AIM IM Amniotic Fluid analysis Diet Therapy Enzyme Therapy Female Fetal Diseases diagnosis Humans Infant, Newborn Metabolism, Inborn Errors diagnosis etiology (...) genetics therapy Pregnancy Sex Chromosome Aberrations complications Vitamins therapeutic use 74 1972 3 18 1972 3 18 0 1 1972 3 18 0 0 ppublish 4551928 PMC1940485 J Pediatr. 1969 Sep;75(3):366-73 4979627 Lancet. 1968 May 18;1(7551):1061-3 4171744 Birth Defects Orig Artic Ser. 1970 May;6(1):26-33 5522716 J Clin Invest. 1969 Jan;48(1):42-55 5765026 Lancet. 1971 Feb 27;1(7696):451 4100420 Am J Hum Genet. 1971 Sep;23(5):533-5 4328491 Proc Natl Acad Sci U S A. 1970 Oct;67(2):976-82 5289034 Metabolism. 1963

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1972 Canadian Medical Association Journal

154. The cerebral sphingolipidoses (metachromatic leucodystrophy and infantile amaurotic idiocy) as human inborn errors of metabolism. (PubMed)

The cerebral sphingolipidoses (metachromatic leucodystrophy and infantile amaurotic idiocy) as human inborn errors of metabolism. 5085660 1973 01 16 2008 11 20 0264-6021 128 1 1972 Jun The Biochemical journal Biochem. J. The cerebral sphingolipidoses (metachromatic leucodystrophy and infantile amaurotic idiocy) as human inborn errors of metabolism. 6P Jatzkewitz H H eng Journal Article England Biochem J 2984726R 0264-6021 0 Sphingolipids EC 3.2.1.- Glucosidases EC 3.2.1.- Hexosaminidases IM (...) Diffuse Cerebral Sclerosis of Schilder metabolism Glucosidases metabolism Hexosaminidases metabolism Humans Lipidoses metabolism Metabolism, Inborn Errors Sphingolipids metabolism 1972 6 1 1972 6 1 0 1 1972 6 1 0 0 ppublish 5085660 PMC1173598

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1972 Biochemical Journal

155. Hyperlysinaemia. Harmless inborn error of metabolism? (PubMed)

Hyperlysinaemia. Harmless inborn error of metabolism? 4761058 1974 02 07 2018 11 13 1468-2044 48 11 1973 Nov Archives of disease in childhood Arch. Dis. Child. Hyperlysinaemia. Harmless inborn error of metabolism? 892-5 van Gelderen H H HH Teijema H L HL eng Journal Article England Arch Dis Child 0372434 0003-9888 0 Carbon Isotopes 29VT07BGDA Citrulline 48TCX9A1VT Cystine 94ZLA3W45F Arginine E524N2IXA3 Ornithine EC 1.2.- Ketone Oxidoreductases K3Z4F929H6 Lysine IM Amino Acid Metabolism, Inborn (...) Errors genetics Arginine blood Body Height Carbon Isotopes Child Citrulline blood Cystine blood Fibroblasts enzymology Humans Ketone Oxidoreductases blood Lysine blood Male Ornithine blood 1973 11 1 1973 11 1 0 1 1973 11 1 0 0 ppublish 4761058 PMC1648636 N Engl J Med. 1965 Sep 30;273(14):723-9 5825685 Pediatrics. 1965 Oct;36(4):592-8 5834065 Pediatrics. 1967 Apr;39(4):546-54 6022933 Pediatrics. 1967 Dec;40(6):986-92 6074139 Helv Paediatr Acta. 1968 Aug;23(4):334-49 5678411 J Clin Invest. 1969 Aug;48

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1973 Archives of Disease in Childhood

156. Editorial: A new inborn error of metabolism. (PubMed)

Editorial: A new inborn error of metabolism. 4841280 1974 09 17 2018 11 13 0007-1161 58 1 1974 Jan The British journal of ophthalmology Br J Ophthalmol Editorial: A new inborn error of metabolism. 1-2 eng Journal Article England Br J Ophthalmol 0421041 0007-1161 E524N2IXA3 Ornithine IM Amino Acid Metabolism, Inborn Errors diagnosis Eye Diseases genetics Eye Manifestations Humans Metabolism, Inborn Errors diagnosis Ornithine metabolism Sex Chromosomes 1974 1 1 1974 1 1 0 1 1974 1 1 0 0 ppublish

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1974 The British journal of ophthalmology

157. Letter: Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism. (PubMed)

Letter: Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism. 4434100 1975 03 10 2018 11 13 0007-1447 4 5940 1974 Nov 09 British medical journal Br Med J Letter: Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism. 344 Brandt N J NJ Brandt S S Rasmussen K K Schnoheyder F F eng Journal Article England Br Med J 0372673 0007-1447 0 Glyceric Acids TE7660XO1C Glycine AIM IM Child, Preschool Chromatography, Thin Layer Glyceric Acids blood (...) metabolism urine Glycine blood metabolism urine Humans Intellectual Disability metabolism Male Metabolism, Inborn Errors 1974 11 9 1974 11 9 0 1 1974 11 9 0 0 ppublish 4434100 PMC1612942 Pediatrics. 1961 Apr;27:522-38 13693094

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1974 British medical journal

158. Glutathione Synthetase Deficiency, an Inborn Error of Metabolism Involving the γ-Glutamyl Cycle in Patients with 5-Oxoprolinuria (Pyroglutamic Aciduria) (PubMed)

Glutathione Synthetase Deficiency, an Inborn Error of Metabolism Involving the γ-Glutamyl Cycle in Patients with 5-Oxoprolinuria (Pyroglutamic Aciduria) Enzyme studies on placenta, cultured skin fibroblasts, and erythrocytes from two sisters with the inborn error 5-oxoprolinuria (pyroglutamic aciduria) indicate that the metabolic lesion in this disease is at the glutathione synthetase (EC 6.3.2.3) step of the gamma-glutamyl cycle. Excessive urinary excretion of 5-oxoproline by these patients

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1974 Proceedings of the National Academy of Sciences of the United States of America

159. Three Cases of Inborn Errors of Metabolism (PubMed)

Three Cases of Inborn Errors of Metabolism 19983339 2010 06 24 2010 06 24 0035-9157 16 Sect Study Dis Child 1923 Proceedings of the Royal Society of Medicine Proc. R. Soc. Med. Three Cases of Inborn Errors of Metabolism. 27-8 Paterson D D eng Journal Article England Proc R Soc Med 7505890 0035-9157 2009 12 9 6 0 1923 1 1 0 0 1923 1 1 0 1 ppublish 19983339 PMC2103939

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1923 Proceedings of the Royal Society of Medicine

160. Living with inborn errors of cholesterol biosynthesis: lessons from adult patients. (PubMed)

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

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