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. 2012 Feb 15;2012(2):CD006659. doi: 10.1002/14651858.CD006659.pub3
Database Date of search Search Strategy
Clinical Trials 28/10/ 2008 #13‐Hydroxy‐3‐methylglutaric aciduria
 #2Abetalipoproteinemia
 #3Acatalasia
 #4Renal Tubular Acidosis
 #5(Adrenal Hyperplasia NEAR/10 (hereditary or congenital or familial or inborn or inherited))
 #6Adrenoleukodystrophy
 #7Albinism
 #8Alkaptonuria
 #9alpha‐Mannosidosis
 #10Amino acidopath*
 #11Amyloid Neuropath*
 #12argininaemia
 #13beta‐Mannosidosis
 #14Biotinidase deficiency
 #15Ketothiolase deficiency
 #16Carbamoyl‐Phosphate Synthase I Deficiency
 #17Carbohydrate‐Deficient Glycoprotein Syndrome
 #18(Cerebral Amyloid Angiopathy NEAR/10 (hereditary or congenital or familial or inborn or inherited))
 #19Cholesterol Ester Storage Disease
 #20Rhizomelic Chondrodysplasia Punctata
 #21Citrullinemia
 #22adrenal hyperplasia
 #23Crigler‐Najjar Syndrome
 #24Cystinuria
 #25Cytochrome‐c Oxidase Deficiency
 #26Fabry* Disease
 #27hypercholesterolaemia
 #28Fanconi Syndrome
 #29fatty acid metabolism
 #30fatty acid oxidation
 #31Fructose Intolerance
 #32Fructose NEAR/10 Metabolism
 #33Fructose‐1,6‐Diphosphatase Deficiency
 #34Fucosidosis
 #35Galactosaemia
 #36Galactosemia
 #37Gangliosidoses
 #38Gangliosidosis
 #39Gaucher
 #40gilbert NEAR/5 disease
 #41Glucosephosphate Dehydrogenase Deficiency
 #42Glutaric aciduria
 #43Glycogen Storage Disease
 #44Renal Glycosuria
 #45Gout
 #46Hartnup NEAR/5 Disease
 #47Hemochromatosis
 #48Hepatolenticular Degeneration
 #49Histidinaemia
 #50Holocarboxylase Synthetase Deficiency
 #51Homocystinuria
 #52Hyperargininemia
 #53(Hyperbilirubinemia NEAR/10 (hereditary or congenital or familial or inborn or inherited))
 #54(Hyperglycinemia NEAR/10 Nonketotic)
 #55Hyperhomocysteinemia
 #56Hyperlipidemia
 #57Hyperlipoproteinemia
 #58Hyperlysinemia
 #59(Hyperoxaluria NEAR/10 Primary)
 #60hyperprolinaemia
 #61Hypoalphalipoproteinemia
 #62Hypobetalipoproteinemia
 #63Hypokalemic Periodic Paralysis
 #64Hypolipoproteinemia
 #65(Hypophosphatemia NEAR/10 (hereditary or congenital or familial or inborn or inherited))
 #66Hypophosphatasia
 #67Hypophosphatemic Rickets
 #68X‐Linked Ichthyosis
 #69Isovaleric acidaemia
 #70Chronic Idiopathic Jaundice
 #71Lactose Intolerance
 #72Lecithin Acyltransferase Deficiency
 #73Leigh Disease
 #74Lesch‐Nyhan Syndrome
 #75Leukodystrophy
 #76Lipidoses
 #77Lysosomal Storage Disease*
 #78Mannosidase Deficiency Disease*
 #79Mannosidosis
 #80Maple Syrup Urine
 #81Medium‐chain acyl‐CoA dehydrogenase
 #82MELAS
 #83MERRF
 #84Methylmalonic aciduria
 #85Mineralocorticoid Excess Syndrome NEAR/10 apparent
 #86mitochondrial b‐oxidation
 #87mitochondrial long‐chain
 #88Mucolipidoses
 #89Mucopolysaccharidoses
 #90Mucopolysaccharidosis
 #91Multicarboxylase deficienc*
 #92Multiple acyl CoA dehydrogenase deficiency
 #93Multiple Carboxylase Deficiency
 #94Multiple Sulfatase Deficiency
 #95Neuronal Ceroid‐Lipofuscinoses
 #96Niemann‐Pick
 #97Oculocerebrorenal Syndrome
 #98organic acidaemia*
 #99organic aciduria*
 #100Ornithine Carbamoyltransferase Deficiency
 #101(Peroxisomal NEAR/10 (disease or disorder))
 #102Phenylketonuria
 #103Porphyria
 #104Progeria
 #105Propionic acidaemia
 #106Pseudohypoaldosteronism
 #107Pseudohypoparathyroidism
 #108Purine‐Pyrimidine Metabolism
 #109(Pyruvate Carboxylase Deficiency NEAR/10 Disease)
 #110(Pyruvate Dehydrogenase Complex Deficiency NEAR/10 Disease)
 #111(Pyruvate Metabolism NEAR/10 (hereditary or congenital or familial or inborn or inherited))
 #112Refsum Disease
 #113Renal Aminoaciduria*
 #114(Renal Tubular Transport NEAR/10 (hereditary or congenital or familial or inborn or inherited))
 #115Sandhoff Disease
 #116SCAD deficiency
 #117Sea‐Blue Histiocyte Syndrome
 #118Sialic Acid Storage Disease
 #119Sjogren‐Larsson Syndrome
 #120Smith‐Lemli‐Opitz Syndrome
 #121Sphingolipidoses
 #122(Steroid Metabolism NEAR/10 (hereditary or congenital or familial or inborn or inherited))
 #123Sulfatidosis
 #124Tangier Disease
 #125Tyrosinaemia
 #126Wolman Disease
 #127(Xanthomatosis NEAR/10 Cerebrotendinous)
 #128Zellweger Syndrome
 #129MeSH descriptor Metabolism, Inborn Errors explode all trees
 #130(#1 OR #2 OR #3 OR #4 OR #5 OR #6 OR #7 OR #8 OR #9 OR #10 OR #11 OR #12 OR #13 OR #14 OR #15 OR #16 OR #17 OR #18 OR #19 OR #20 OR #21 OR #22 OR #23 OR #24 OR #25 OR #26 OR #27 OR #28 OR #29 OR #30 OR #31 OR #32 OR #33 OR #34 OR #35 OR #36 OR #37 OR #38 OR #39 OR #40 OR #41 OR #42 OR #43 OR #44 OR #45 OR #46 OR #47 OR #48 OR #49 OR #50 OR #51 OR #52 OR #53 OR #54 OR #55 OR #56 OR #57 OR #58 OR #59 OR #60 OR #61 OR #62 OR #63 OR #64 OR #65 OR #66 OR #67 OR #68 OR #69 OR #70 OR #71 OR #72 OR #73 OR #74 OR #75 OR #76 OR #77 OR #78 OR #79 OR #80 OR #81 OR #82 OR #83 OR #84 OR #85 OR #86 OR #87 OR #88 OR #89 OR #90 OR #91 OR #92 OR #93 OR #94 OR #95 OR #96 OR #97 OR #98 OR #99 OR #100 OR #101 OR #102 OR #103 OR #104 OR #105 OR #106 OR #107 OR #108 OR #109 OR #110 OR #111 OR #112 OR #113 OR #114 OR #115 OR #116 OR #117 OR #118 OR #119 OR #120 OR #121 OR #122 OR #123 OR #124 OR #125 OR #126 OR #127 OR #128 OR #129)
 #131levocarnitine
 #132carnitine
 #133L‐carnitine
 #134(#131 OR #132 OR #133)
 #135(#130 AND #134)
MEDLINE via Ovid (1950 to 28/10/2008) 28/10/2008 1 randomized controlled trial.pt. (267719)
 2 controlled clinical trial.pt. (80501)
 3 randomized.ab. (175733)
 4 placebo.ab. (110727)
 5 drug therapy.fs. (1311086)
 6 randomly.ab. (127547)
 7 trial.ab. (183149)
 8 groups.ab. (883669)
 9 1 or 2 or 3 or 4 or 5 or 6 or 7 or 8 (2370962)
 10 (animals not (humans and animals)).sh. (3279583)
 11 9 not 10 (2011516)
 12 3‐Hydroxy‐3‐methylglutaric aciduria.tw. (46)
 13 Abetalipoproteinemia.tw. (285)
 14 Acatalasia.tw. (23)
 15 Renal Tubular Acidosis.tw. (1737)
 16 (Adrenal Hyperplasia adj10 (hereditary or congenital or familial or inborn or inherited)).tw. (2938)
 17 Adrenoleukodystrophy.tw. (1405)
 18 Albinism.tw. (1524)
 19 Alkaptonuria.tw. (479)
 20 alpha‐Mannosidosis.tw. (128)
 21 Amino acidopath$.tw. (35)
 22 Amyloid Neuropath$.tw. (131)
 23 argininaemia.tw. (7)
 24 beta‐Mannosidosis.tw. (97)
 25 Biotinidase deficiency.tw. (236)
 26 Ketothiolase deficiency.tw. (60)
 27 Carbamoyl‐Phosphate Synthase I Deficiency.tw. (2)
 28 Carbohydrate‐Deficient Glycoprotein Syndrome.tw. (208)
 29 (Cerebral Amyloid Angiopathy adj10 (hereditary or congenital or familial or inborn or inherited)).tw. (73)
 30 Cholesterol Ester Storage Disease.tw. (54)
 31 Rhizomelic Chondrodysplasia Punctata.tw. (176)
 32 Citrullinemia.tw. (264)
 33 adrenal hyperplasia.tw. (3803)
 34 Crigler‐Najjar Syndrome.tw. (244)
 35 Cystinuria.tw. (1002)
 36 Cytochrome‐c Oxidase Deficiency.tw. (266)
 37 Fabry$ Disease.tw. (1856)
 38 hypercholesterolaemia.tw. (3316)
 39 Fanconi Syndrome.tw. (857)
 40 fatty acid metabolism.tw. (2973)
 41 fatty acid oxidation.tw. (3917)
 42 Fructose Intolerance.tw. (341)
 43 (Fructose adj10 Metabolism).tw. (914)
 44 Fructose‐1,6‐Diphosphatase Deficiency.tw. (56)
 45 Fucosidosis.tw. (256)
 46 Galactosaemia.tw. (320)
 47 Galactosemia.tw. (1077)
 48 Gangliosidoses.tw. (165)
 49 Gangliosidosis.tw. (1055)
 50 Gaucher.tw. (1837)
 51 (gilbert adj5 disease).tw. (19)
 52 Glucosephosphate Dehydrogenase Deficiency.tw. (23)
 53 Glutaric aciduria.tw. (343)
 54 Glycogen Storage Disease.tw. (1606)
 55 Renal Glycosuria.tw. (162)
 56 Gout.tw. (6106)
 57 (Hartnup adj5 Disease).tw. (98)
 58 Hemochromatosis.tw. (4667)
 59 Hepatolenticular Degeneration.tw. (493)
 60 Histidinaemia.tw. (60)
 61 Holocarboxylase Synthetase Deficiency.tw. (51)
 62 Homocystinuria.tw. (1231)
 63 Hyperargininemia.tw. (71)
 64 (Hyperbilirubinemia adj10 (hereditary or congenital or familial or inborn or inherited)).tw. (221)
 65 (Hyperglycinemia adj10 Nonketotic).tw. (188)
 66 Hyperhomocysteinemia.tw. (2910)
 67 Hyperlipidemia.tw. (10393)
 68 Hyperlipoproteinemia.tw. (2873)
 69 Hyperlysinemia.tw. (43)
 70 (Hyperoxaluria adj10 Primary).tw. (751)
 71 hyperprolinaemia.tw. (35)
 72 Hypoalphalipoproteinemia.tw. (200)
 73 Hypobetalipoproteinemia.tw. (234)
 74 Hypokalemic Periodic Paralysis.tw. (375)
 75 Hypolipoproteinemia.tw. (23)
 76 (Hypophosphatemia adj10 (hereditary or congenital or familial or inborn or inherited)).tw. (97)
 77 Hypophosphatasia.tw. (530)
 78 Hypophosphatemic Rickets.tw. (508)
 79 X‐Linked Ichthyosis.tw. (282)
 80 Isovaleric acidaemia.tw. (31)
 81 Chronic Idiopathic Jaundice.tw. (65)
 82 Lactose Intolerance.tw. (841)
 83 Lecithin Acyltransferase Deficiency.tw. (0)
 84 Leigh Disease.tw. (117)
 85 Lesch‐Nyhan Syndrome.tw. (623)
 86 Leukodystrophy.tw. (1782)
 87 Lipidoses.tw. (143)
 88 Lysosomal Storage Disease$.tw. (1398)
 89 Mannosidase Deficiency Disease$.tw. (0)
 90 Mannosidosis.tw. (447)
 91 Maple Syrup Urine.tw. (723)
 92 Medium‐chain acyl‐CoA dehydrogenase.tw. (624)
 93 MELAS.tw. (1105)
 94 MERRF.tw. (343)
 95 Methylmalonic aciduria.tw. (319)
 96 (Mineralocorticoid Excess Syndrome adj10 apparent).tw. (32)
 97 mitochondrial b‐oxidation.tw. (2)
 98 mitochondrial long‐chain.tw. (62)
 99 Mucolipidoses.tw. (90)
 100 Mucopolysaccharidoses.tw. (679)
 101 Mucopolysaccharidosis.tw. (1919)
 102 Multicarboxylase deficienc$.tw. (1)
 103 Multiple acyl CoA dehydrogenase deficiency.tw. (49)
 104 Multiple Carboxylase Deficiency.tw. (121)
 105 Multiple Sulfatase Deficiency.tw. (92)
 106 Neuronal Ceroid‐Lipofuscinoses.tw. (363)
 107 Niemann‐Pick.tw. (1564)
 108 Oculocerebrorenal Syndrome.tw. (106)
 109 organic acidaemia$.tw. (39)
 110 organic aciduria$.tw. (311)
 111 Ornithine Carbamoyltransferase Deficiency.tw. (42)
 112 (Peroxisomal adj10 (disease or disorder)).tw. (428)
 113 Phenylketonuria.tw. (4275)
 114 Porphyria.tw. (6321)
 115 Progeria.tw. (636)
 116 Propionic acidaemia.tw. (111)
 117 Pseudohypoaldosteronism.tw. (401)
 118 Pseudohypoparathyroidism.tw. (1013)
 119 Purine‐Pyrimidine Metabolism.tw. (9)
 120 (Pyruvate Carboxylase Deficiency adj10 Disease).tw. (7)
 121 (Pyruvate Dehydrogenase Complex Deficiency adj10 Disease).tw. (1)
 122 (Pyruvate Metabolism adj10 (hereditary or congenital or familial or inborn or inherited)).tw. (8)
 123 Refsum Disease.tw. (212)
 124 Renal Aminoaciduria$.tw. (9)
 125 (Renal Tubular Transport adj10 (hereditary or congenital or familial or inborn or inherited)).tw. (14)
 126 Sandhoff Disease.tw. (245)
 127 SCAD deficiency.tw. (42)
 128 Sea‐Blue Histiocyte Syndrome.tw. (41)
 129 Sialic Acid Storage Disease.tw. (77)
 130 Sjogren‐Larsson Syndrome.tw. (257)
 131 Smith‐Lemli‐Opitz Syndrome.tw. (534)
 132 Sphingolipidoses.tw. (138)
 133 (Steroid Metabolism adj10 (hereditary or congenital or familial or inborn or inherited)).tw. (13)
 134 Sulfatidosis.tw. (13)
 135 Tangier Disease.tw. (419)
 136 Tyrosinaemia.tw. (187)
 137 Wolman Disease.tw. (84)
 138 (Xanthomatosis adj10 Cerebrotendinous).tw. (430)
 139 Zellweger Syndrome.tw. (599)
 140 exp metabolism, inborn errors/ or exp amino acid metabolism, inborn errors/ or exp amino acid transport disorders, inborn/ or exp amyloidosis, familial/ or exp brain diseases, metabolic, inborn/ or exp carbohydrate metabolism, inborn errors/ or exp cytochrome‐c oxidase deficiency/ or exp hyperbilirubinemia, hereditary/ or exp lipid metabolism, inborn errors/ or exp lysosomal storage diseases/ or exp metal metabolism, inborn errors/ or exp peroxisomal disorders/ or exp porphyrias/ or exp progeria/ or exp purine‐pyrimidine metabolism, inborn errors/ or exp renal tubular transport, inborn errors/ or exp steroid metabolism, inborn errors/ (124515)
 141 or/12‐140 (159671)
 142 levocarnitine.tw. (47)
 143 carnitine.tw. (8489)
 144 L‐carnitine.tw. (2595)
 145 exp Carnitine/ (6706)
 146 or/142‐145 (9950)
 147 11 and 141 and 146 (305)
MEDLINE via Ovid (1950 to July week 4 2007) 10 Oct 2008 1 RANDOMIZED CONTROLLED TRIAL.pt. (267369)
 2 CONTROLLED CLINICAL TRIAL.pt. (80428)
 3 RANDOMIZED CONTROLLED TRIALS.sh. (0)
 4 RANDOM ALLOCATION.sh. (63132)
 5 DOUBLE BLIND METHOD.sh. (100865)
 6 SINGLE BLIND METHOD.sh. (12612)
 7 or/1‐6 (401918)
 8 (ANIMALS not HUMAN).sh. (4360195)
 9 7 not 8 (364590)
 10 CLINICAL TRIAL.pt. (459949)
 11 exp Clinical Trial/ (567966)
 12 (clin$ adj25 trial$).ti,ab. (167797)
 13 ((singl$ or doubl$ or trebl$ or tripl$) adj25 (blind$ or mask$)).ti,ab. (105799)
 14 PLACEBOS.sh. (28238)
 15 placebo$.ti,ab. (121110)
 16 random$.ti,ab. (473183)
 17 RESEARCH DESIGN.sh. (54761)
 18 or/10‐17 (1001547)
 19 18 not 8 (890483)
 20 19 not 9 (538260)
 21 COMPARATIVE STUDY.sh. (1439860)
 22 exp EVALUATION STUDIES/ (111837)
 23 FOLLOW UP STUDIES.sh. (381719)
 24 PROSPECTIVE STUDIES.sh. (254647)
 25 (control$ or prospectiv$ or volunteer$).ti,ab. (2166497)
 26 or/21‐25 (3666472)
 27 26 not 8 (2610816)
 28 27 not (9 or 20) (2109014)
 29 9 or 20 or 28 (3011864)
 30 exp Rett Syndrome/ (1363)
 31 Rett syndrome.tw. (1609)
 32 (levocarnitine or carnitine or L‐carnitine).tw. (8879)
 33 30 or 31 (1801)
 34 33 and 32 and 29 (7)
 35 from 34 keep 1‐7 (7)