Inborn Errors of Metabolism Trials Register

The Inborn Errors of Metabolism Trials Register is compiled from database searches (MEDLINE and CENTRAL) and the hand searching of journals (Journal of Inherited Metabolic Disease and Molecular Genetics and Metabolism) and conference abstracts (Society for the Study of Inborn Errors of Metabolism SymposiaSHS Inborn Errors Review Series ). Details given below.

Database searching

Phenylketonuria subset

MEDLINE - searched on Ovid, from 1966 to 1994, on SilverPlatter CD‐Rom, from 1994 to 2002 and Ovid from 2003 to the present. The following search strategy for Ovid MEDLINE is being used:

#1 randomized controlled trial.pt. 
#2 controlled clinical trial.pt. 
#3 randomized.ab. 
#4 placebo.ab. 
#5 drug therapy.fs. 
#6 randomly.ab. 
#7 trial.ab. 
#8 groups.ab. 
#9 1 or 2 or 3 or 4 or 5 or 6 or 7 or 8 
#10 animals.sh. not (humans.sh. and animals.sh.) 
#11 9 not 10
#12 exp Phenylketonurias/ 
#13 phenylketonuria.tw. 
#14 PKU.tw. 
#15 phenylalanine hydroxylase defici$.tw. 
#16 hyperphenylalanin?emia.tw. 
#17 PAH defici$.tw. 
#18 or/12‐17 
#19 11 and 18

Lines #12 to #18 identify records relating to PKU; lines #1 to #25 reflect the Cochrane Highly Sensitive Search Strategy for RCTs: sensitivity‐maximising version [2008 revision] and line #19 combines these components together to identify RCTs/CCTs on PKU.

CENTRAL - searched on each new issue of the Cochrane Library.

#1 PHENYLKETONURIAS 
#2 phenylketonuri* 
#3 phenyl‐ketonuri* 
#4 pku 
#5 (phenylalanine next hydroxylase next defici*) 
#6 hyperphenylalanin* 
#7 hyper‐phenylalanin* 
#8 (pah next defici*) 
#9 (#1 or #2 or #3 or #4 or #5 or #6 or #7 or #8) 
#10 (#9 and (not sr‐cf))

Lines #1 to #9 identify records relating to PKU. Line #10 identifies records which are not already on our PKU register. Search terms shown in capitals are MeSH terms.

Hyperlipoproteinaemia subset

MEDLINE - searched on Ovid, from 1966 to 1994, on SilverPlatter CD‐Rom, from 1966 to 2002 and Ovid 2003 to the present. The following search strategy for Ovid MEDLINE is being used:

#1 randomized controlled trial.pt. 
#2 controlled clinical trial.pt. 
#3 randomized.ab. 
#4 placebo.ab. 
#5 drug therapy.fs. 
#6 randomly.ab. 
#7 trial.ab. 
#8 groups.ab. 
#9 1 or 2 or 3 or 4 or 5 or 6 or 7 or 8 
#10 animals.sh. not (humans.sh. and animals.sh.) 
#11 9 not 10
#12 exp HYPERLIPOPROTEINEMIAS/ 
#13 (hyperlipoprotein?emi$ and type I).tw. 
#14 (hyperlipoprotein?emi$ and type II$).tw. 
#15 (hyperlipoprotein?emi$ and type IV).tw. 
#16 (hyperlipoprotein?emi$ and type V).tw. 
#17 familial hypercholesterol?emi$.tw. 
#18 familial hyperlipid?emi$.tw. 
#19 familial lipoprotein lipase defici$.tw. 
#20 familial hyperchylomicron?emi$.tw. 
#21 burger grutz.tw. 
#22 familial hypertriglycerid?emi$.tw. 
#23 familial hyperlip?emi$.tw. 
#24 familial hyperbetalipoprotein?emi$.tw. 
#25 dysbetalipoprotein?emi$.tw. 
#26 familial hyperprebetalipoprotein?emi$.tw. 
#27 broad beta disease.tw. 
#28 broad beta band disease.tw. 
#29 fused beta band disease.tw. 
#30 remnant removal disease.tw. 
#31 familial apolipoprotein C‐II defici$.tw. 
#32 apoprotein C defici$.tw. 
#33 or/12‐32 
#34 11 and 33

Lines #26 to #47 identify records relating to hyperlipoproteinaemia; lines #1 to #25 reflect¬the Cochrane Highly Sensitive Search Strategy for RCTs: sensitivity‐maximising version [2008 revision] and line #34 combines these components together to identify RCTs/CCTs on hyperlipoproteinaemia.

CENTRAL - searched on each new issue of the Cochrane Library.

#1 HYPERLIPOPROTEINEMIA 
#2 HYPERCHOLESTEROLEMIA FAMILIAL 
#3 HYPERLIPIDEMIA FAMILIAL COMBINED 
#4 LIPOPROTEIN LIPASE DEFICIENCY FAMILIAL 
#5 (hyperlipoproteinemi* or hyperlipoproteinaemi*) 
#6 (#5 and ((type next i) or (type next ii) or (type next iii) or (type next iv) or (type next v))) 
#7 (familial near hypercholesterolemi*) 
#8 (familial near hypercholesterolaemi*) 
#9 (familial near hyperlipidemi*) 
#10 (familial near hyperlipidaemi*) 
#11 (familial next lipoprotein next lipase next defici*) 
#12 (familial near hyperchylomicronemi*) 
#13 (familial near hyperchylomicronaemi*) 
#14 (burger next grutz) 
#15 (familial near hypertriglyceridemi*) 
#16 (familial near hypertriglyceridaemi*) 
#17 (familial near hyperlipemi*) 
#18 (familial near hyperlipaemi*) 
#19 (familial near hyperbetalipoproteinemi*) 
#20 (familial near hyperbetalipoproteinaemi*) 
#21 (disbetalipoproteinemi* or dysbetalipoproteinaemi*) 
#22 (familial near hyperprebetalipoproteinemi*) 
#23 (familial near hyperprebetalipoproteinaemi*) 
#24 (broad next beta next disease) 
#25 (broad next beta next band next disease) 
#26 (fused next beta next band next disease) 
#27 (remnant next removal next disease) 
#28 (familial next apolipoprotein next c‐ii next defici*) 
#29 (apoprotein next c next defici*) 
#30 (#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) 
#31 (#30 and (not sr‐cf))

Lines #1 to #30 identify records relating to hyperlipoproteinaemia. Line #31 identifies records which are not already on our hyperlipoproteinaemia register. Search terms shown in capitals are MeSH terms.

Fabry’s Disease subset

MEDLINE - searched on Ovid from 1948 to present. The following search strategy for Ovid MEDLINE is being used:

#1 randomized controlled trial.pt. 
#2 controlled clinical trial.pt. 
#3 randomized.ab. 
#4 placebo.ab. 
#5 drug therapy.fs. 
#6 randomly.ab. 
#7 trial.ab. 
#8 groups.ab. 
#9 1 or 2 or 3 or 4 or 5 or 6 or 7 or 8 
#10 animals.sh. not (humans.sh. and animals.sh.) 
#11 9 not 10 
#12 Fabry Disease/ 
#13 (Fabry$ adj5 (disease or syndrome)).mp. 
#14 angiokeratoma corporis diffusum.mp. 
#15 (Ruiter adj5 pompen).mp. 
#16 Ceramide trihexosidosis.mp. 
#17 (Sweeley adj5 Klionsky).mp. 
#18 12 or 13 or 14 or 15 or 16 or 17 
#19 11 and 18

Lines #12 to #18 identify records relating to Fabry's Disease; lines #1 to #11 reflect the Cochrane Highly Sensitive Search Strategy for RCTs: sensitivity‐maximising version [2008 revision] and line #19 combines these components together to identify RCTs/CCTs on Fabry's Disease.

CENTRAL - searched on each new issue of the Cochrane Library.

#1 MeSH descriptor Fabry Disease explode all trees 
#2 Fabry* NEAR/5 (disease or syndrome) [all fields in all products] 
#3 angiokeratoma corporis diffusum [all fields in all products] 
#4 Ruiter NEAR/5 pompen [all fields in all products] 
#5 Ceramide trihexosidosis [all fields in all products] 
#6 Sweeley NEAR/5 Klionsky [all fields in all products] 
#7 (#1 OR #2 OR #3 OR #4 OR #5 OR #6 
#8 (#7) with New in Record Status

Lines #1 to #7 identify records relating to fabry's disease. Line #8 identifies records which are not already on our Fabry's register.

Other genetic disorders – Hereditary Hemorrahagic Telangiectasia (HHT) subset

MEDLINE - searched on Ovid from 1948 to present. The following search strategy for Ovid MEDLINE is being used:

#1 exp Telangiectasia, Hereditary Hemorrhagic/ 
#2 Hereditary hemorrhagic telangiectasia.mp. [mp=title, original title, abstract, name of substance word, subject heading word] 
#3 (osler$ adj (disease or syndrome)).mp. [mp=title, original title, abstract, name of substance word, subject heading word] 
#4 (osler adj5 (weber or rendu)).mp. [mp=title, original title, abstract, name of substance word, subject heading word] 
#5 hht.mp. [mp=title, original title, abstract, name of substance word, subject heading word] 
#6 randomized controlled trial.pt. 
#7 controlled clinical trial.pt. 
#8 randomized.ab. 
#9 placebo.ab. 
#10 drug therapy.fs. 
#11 randomly.ab. 
#12 trial.ab. 
#13 groups.ab. 
#14 (animals not (humans and animals)).sh. 
#15 8 not 9 
#16 1 or 2 or 3 or 4 or 5 
#17 16 and 15 

Lines #1 to #5 identify records relating HHT; lines #6 to #15 reflect the Cochrane Highly Sensitive Search Strategy for RCTs: sensitivity‐maximising version [2008 revision] and line #17 combines these components together to identify RCTs/CCTs on HHT.

CENTRAL - searched on each new issue of the Cochrane Library.

#1 MeSH descriptor Telangiectasia, Hereditary Hemorrhagic explode all trees 
#2 Hereditary hemorrhagic telangiectasia 
#3 osler* NEXT (disease or syndrome) 
#4 osler NEAR (weber or rendu) 
#5 HHT 
#6 (#1 OR #2 OR #3 OR #4 OR #5) 
#7 (#6) with New in Record Status 

Lines #1 to #7 identify records relating to HHT. Line #7 identifies records which are not already on our HHT register.

Hand searching 

Journals

 Journal of Inherited Metabolic Disease cover sheet                                                    Molecular Genetics and Metabolism cover sheet

Journal of Inherited Metabolic Disease              Molecular Genetics and Metabolism 
(1978 to 2015)                                                                 (2010 to 2015) 

Conferences

Society for the Study of Inborn Errors of Metabolism Symposia 

19th Society for the Study of Inborn Errors of Metabolism Annual Symposium; 1981; Southampton 
20th Society for the Study of Inborn Errors of Metabolism Annual Symposium; 1982; Manchester 
22nd Society for the Study of Inborn Errors of Metabolism Annual Symposium; 1984; Newcastle 
23rd Society for the Study of Inborn Errors of Metabolism Annual Symposium; 1985; Liverpool 
25th Society for the Study of Inborn Errors of Metabolism Annual Symposium; 1987; Sheffield 
26th Society for the Study of Inborn Errors of Metabolism Annual Symposium; 1988; Glasgow 
27th Society for the Study of Inborn Errors of Metabolism Annual Symposium; 1989; Munich 
28th Society for the Study of Inborn Errors of Metabolism Annual Symposium; 1990; Birmingham 
29th Society for the Study of Inborn Errors of Metabolism Annual Symposium; 1991; London 
30th Society for the Study of Inborn Errors of Metabolism Annual Symposium; 1992; Leuven 
31st Society for the Study of Inborn Errors of Metabolism Annual Symposium; 1993; Manchester 
32nd Society for the Study of Inborn Errors of Metabolism Annual Symposium; 1994; Edinburgh 
34th Society for the Study of Inborn Errors of Metabolism Annual Symposium; 1996; Cardiff (Journal of Inherited Metabolic Disease 1996, Vol. 19, Supplement 1) 
Society for the Study of Inborn Errors of Metabolism 35th Annual Symposium; 1997 Sept 2‐5; Goteborg, Sweden (Journal of Inherited Metabolic Disease 1997, Vol. 20, Supplement 1) 
Society for the Study of Inborn Errors of Metabolism 36th Annual Symposium; 1998 Sept 1‐4; York (Journal of Inherited Metabolic Disease 1998, Vol. 21, Supplement 2) 
Society for the Study of Inborn Errors of Metabolism 37th Annual Symposium; 1999; Genoa, Italy (Journal of Inherited Metabolic Disease 1999, Vol. 22, Supplement 1) 
Society for the Study of Inborn Errors of Metabolism 38th Annual Symposium; 2000; Cambridge, England (Journal of Inherited Metabolic Disease 2000, Vol. 23, Supplement 1) 
Society for the Study of Inborn Errors of Metabolism 39th Annual Symposium; 2001; Prague, Czech Republic (Journal of Inherited Metabolic Disease 2001, Vol. 24, Supplement 1) 
Society for the Study of Inborn Errors of Metabolism 40th Annual Symposium; 2002; Dublin, Ireland (Journal of Inherited Metabolic Disease 2002, Vol. 25, Supplement 1) 
International Congress of Inborn Errors of Metabolism (includes SSIEM); 2003 Sept 2‐6; Brisbane, Australia (Journal of Inherited Metabolic Disease 2003, Vol. 26, Supplement 2) 
Society for the Study of Inborn Errors of Metabolism 41st Annual Symposium; 2004 Aug 31‐Sept 3; Amsterdam, The Netherlands (Journal of Inherited Metabolic Disease 2004, Vol. 27, Supplement 1) 
Society for the Study of Inborn Errors of Metabolism 42nd Annual Symposium; 2005 Sept 6‐9; Paris, France (Journal of Inherited Metabolic Disease 2005, Vol. 28, Supplement 1) 
Society for the Study of Inborn Errors of Metabolism 43rd Annual Symposium; 2006 Sep 12‐16; Chiba, Japan (Journal of Inherited Metabolic Disease 2006, Vol. 29, Supplement 1) 
Society for the Study of Inborn Errors of Metabolism 44th Annual Symposium; 2007 Sep 4‐7; Hamburg (Journal of Inherited Metabolic Disease 2007, Vol. 30, Supplement 1) 
Society for the Study of Inborn Errors of Metabolism 45th Annual Symposium; 2008 Sep 2‐5; Lisboa, Portugal (Journal of Inherited Metabolic Disease 2008, Vol. 31, Supplement 1) 
Society for the Study of Inborn Errors of Metabolism Annual Symposium; 2010 Aug 31‐Sep 3; Istanbul, Turkey (Journal of Inherited Metabolic Disease 2010, Vol 33, Supplement 1) 
Society for the Study of Inborn Errors of Metabolism Annual Symposium; 2011 Aug 30‐ Sep 2; Geneva, Switzerland (Journal of Inherited Metabolic Disease 2011, Vol 34, Supplement 3) 
Society for the Study of Inborn Errors of Metabolism Annual Symposium; 2012 Sep 4‐7; Birmingham, UK (Journal of Inherited Metabolic Disease 2012, Vol 35, Supplement 1) 
International Congress of Inborn Errors of Metabolism (includes SSIEM); 2013 Sept 3‐6; Barcelona, Spain (Journal of Inherited Metabolic Disease 2013, Vol 36, Supplement 2) 
Society for the Study of Inborn Errors of Metabolism Annual Symposium; 2014 Sept 2‐5; Innsbruck, Austria (Journal of Inherited Metabolic Disease 2014, Vol 37, Supplement 1)

SHS Inborn Errors Review Series 

SHS Inborn Errors Review Series Number 1, 18 March 1988 
SHS Inborn Errors Review Series Number 2, 16 March 1990 
(Number 3 not available) 
SHS Inborn Errors Review Series Number 4, 4 March 1994 
SHS Inborn Errors Review Series Number 5, 10 March 1995 
SHS Inborn Errors Review Series Number 6, 8 March 1996 
SHS Inborn Errors Review Series Number 7, 7 March 1997 
SHS Inborn Errors Review Series Number 8, 6 March 1998 
SHS Inborn Errors Review Series Number 9, 5 March 1999 
SHS Inborn Errors Review Series Number 10, 10 March 2000 
SHS Inborn Error Review Series Number 11: Phenylketonuria & the Brain and Tyrosinaemia, 2 March 2001 
SHS Inborn Error Review Series Number 12: Dietary Management of Metabolic Disease, 8 March 2002 
SHS Inborn Error Review Series Number 13: Dietary Management of Metabolic Disease, 7 March 2003 
SHS Inborn Error Review Series Number 14: Dietary Management of Inborn Errors of Metabolic Disease, 12 March 2004 
SHS Inborn Error Review Series Number 15: Dietary Management of Inborn Errors of Metabolism,¬18 March 2005 
SHS Inborn Errors Review Series Number 16: Dietary Management of Inborn Errors of Metabolism, 10th March 2006 
SHS Inborn Errors Review Series Number 17: Dietary Managment of Inherited Metabolic Disease, 16th March 2007 

continued as Dietary Management of Inherited Metabolic Disease (DMIMD)
Dietary Management of Inherited Metabolic Disease (DMIMD); 2008 April 17‐18; London, UK.

SHS XP Maxamaid: a compilation of abstracts, July 2000 
SHS XP Maxamum: a compilation of abstracts, July 2000 
SHS "Diet for life" in Phenylketonuria: a compilation of abstracts, August 2000 
SHS XP Analog and XP Analog LCP: a compilation of abstracts, April 2001