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Inborn Errors of Metabolism

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121. Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework (Full text)

Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework Across all areas of health care, decision makers are in pursuit of what Berwick and colleagues have called the "triple aim": improving patient experiences with care, improving health outcomes, and managing health system impacts. This is challenging in a rare disease context, as exemplified by inborn errors of metabolism (...) . There is a need for evaluative outcomes research to support effective and appropriate care for inborn errors of metabolism. We suggest that such research should consider interventions at both the level of the health system (e.g., early detection through newborn screening, programs to provide access to treatments) and the level of individual patient care (e.g., orphan drugs, medical foods). We have developed a practice-based evidence framework to guide outcomes research for inborn errors of metabolism

2012 Genetics in Medicine PubMed abstract

122. Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China. (Full text)

Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China. Tandem mass spectrometry (MS/MS) has been available in China for 8 years. This technique makes it possible to screen for a wide range of previously unscreened inborn errors of metabolism (IEM) using a single test. This 3-year pilot study investigated the screening, diagnosis, treatment and outcomes of IEM in symptomatic infants and children.All children encountered in the Newborn (...) Screening Center of Zhejiang Province during a 3-year period with symptoms suspicious for IEM were screened for metabolic diseases. Dried blood spots were collected and analyzed by tandem mass spectrometry. The diagnoses were further confirmed by clinical symptoms and biochemical analysis. Neonatal intrahepatic cholestasis caused by citrin deficiency, ornithine transcarbamylase deficiency and primary carnitine deficiency were confirmed by DNA analysis.A total of 11,060 symptomatic patients (6,720 boys

2012 BMC Pediatrics PubMed abstract

123. A rare inborn error of metabolism associated with a Dandy–Walker malformation (Full text)

A rare inborn error of metabolism associated with a Dandy–Walker malformation 22700370 2013 09 16 2018 11 13 2240-2993 112 4 2012 Dec Acta neurologica Belgica Acta Neurol Belg A rare inborn error of metabolism associated with a Dandy-Walker malformation. 425-6 10.1007/s13760-012-0098-x Manel Limeme L Imaging Department of Farhat Hached Hospital, 4000 Sousse, Tunisia. limeme.manel@hotmail.com Houneida Zaghouani Ben Alaya ZB Habib Amara A Dejla Bakir B Chekib Kraiem K eng Case Reports Journal

2012 Acta neurologica Belgica PubMed abstract

124. Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism. (Full text)

Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism. Inherited disorders of vitamin B12 (cobalamin) have provided important clues to how this vitamin, which is essential for hematological and neurological function, is transported and metabolized. We describe a new disease that results in failure to release vitamin B12 from lysosomes, which mimics the cblF defect caused by LMBRD1 mutations. Using microcell-mediated chromosome transfer and exome sequencing, we identified

2012 Nature Genetics PubMed abstract

125. An Inborn Error of Metabolism with the Urinary Excretion of α-Hydroxy-Butyric Acid and Phenylpyruvic Acid (Full text)

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

1958 Archives of Disease in Childhood PubMed abstract

126. The Expanding Pattern of the Inborn Errors of Metabolism (Full text)

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

1959 Bulletin of the New York Academy of Medicine PubMed abstract

127. Inborn Errors(?) of Metabolism (Full text)

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

1959 Canadian Medical Association Journal PubMed abstract

128. Three Cases of Inborn Errors of Metabolism (Full text)

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

1923 Proceedings of the Royal Society of Medicine PubMed abstract

129. Letter: Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism. (Full text)

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

1974 British medical journal PubMed abstract

130. Inborn errors of metabolism in neurology (Wilson's disease, Refsum's disease and lipidoses). (Full text)

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

1971 Proceedings of the Royal Society of Medicine PubMed abstract

131. Inborn errors of metabolism. (Full text)

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

1971 California Medicine PubMed abstract

132. 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. (Full text)

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

1975 Journal of Clinical Investigation PubMed abstract

133. Phenylketonuria, the inborn errors of metabolism, and clinical research--1971. (Full text)

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

1971 California Medicine PubMed abstract

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

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

1970 Biochemical Journal PubMed abstract

135. The cerebral sphingolipidoses (metachromatic leucodystrophy and infantile amaurotic idiocy) as human inborn errors of metabolism. (Full text)

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

1972 Biochemical Journal PubMed abstract

136. Inborn errors of metabolism: principles and their applications. (Full text)

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

1972 Canadian Medical Association Journal PubMed abstract

137. Editorial: A new inborn error of metabolism. (Full text)

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

1974 The British journal of ophthalmology PubMed abstract

138. Hyperlysinaemia. Harmless inborn error of metabolism? (Full text)

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

1973 Archives of Disease in Childhood PubMed abstract

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

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

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

140. Genetical theory and the "inborn errors of metabolism". (Full text)

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

1970 British medical journal PubMed abstract

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