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Table 2 Characteristics of the guidelines and recommendations

From: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

Authors/titles Year Disorder Authors (n) Countries (n) Affiliations (n) Topics
Disorders of amino acid and other organic acid metabolism
Arnold GL [22] 2008 3-methylcrotonyl CoA carboxylase deficiency 15 2 15 Diagnosis, management
Baumgartner MR [37] 2014 Methylmalonic and propionic acidemia 25 12 21 Screening, diagnosis, management, follow-up
Frazier D [38] 2014 Maple syrup urine disease 9 1 9 Management
Haberle J [19] 2012 Urea cycle disorders 15 4 14 Screening, diagnosis, management, follow-up
Kölker S [20] 2011 Glutaric aciduria type I 19 8 15 Screening, diagnosis, management
Kölker S [39] 2007 Glutaric aciduria type I 19 10 15 Screening, diagnosis, management
NIH CDP [40] 2001 Phenylketonuria 14 1 14 Screening, diagnosis, management, follow-up
Vockley J [41] 2014 Phenylketonuria 10 1 10 Screening, diagnosis, management, follow-up
Disorders of carbohydrate metabolism
Barba-Romero MA [42] 2012 Pompe disease 13 1 13 Diagnosis, management, follow-up
Cochat P [43] 2012 Primary hyperoxaluria Type 1 18 6 16 Screening, diagnosis, management
Cupler EJ [44] 2012 Pompe disease 7 1 7 Diagnosis, management
Kishnani PS [45] 2014 Glycogen storage disease type I 15 1 8 Diagnosis, management
Kishnani PS [46] 2010 Glycogen Storage Disease Type III 16 1 10 Screening, diagnosis, management
Kishnani PS [47] 2006 Pompe disease 22 3 15 Screening, diagnosis, management, follow-up
Rake JP [48] 2002 Glycogen storage disease type I 6 4 4 Diagnosis, management, follow-up
Visser G [49] 2002 Glycogen Stoage Disease type I 8 5 6 Management
Winchester B [50] 2008 Pompe disease 29 17 25 Diagnosis
Disorders of vitamin and non protein cofactor metabolism and transport
BCMSC [51] 2011 Cobalamin deciciency unclear 1 unclear Diagnosis, management, follow-up
Devalia V [52] 2014 Cobalamin and folate disorders 3 2 3 Screening, diagnosis, management
Disorders of porphyrin and haem metabolism
Stein P [53] 2013 Porphyria 5 1 5 Diagnosis, management
Disorders of mineral absorption and transport
Bacon BR [54] 2011 Hemochromatosis 5 2 5 Screening, diagnosis, management
BCMA [55] 2013 Hemochromatosis Unclear 1 Unclear Screening, diagnosis, management
EASL [56] 2012 Wilson Disease 8 Unclear Unclear Screening, diagnosis, management
Qaseem A [57] 2005 Hemochromatosis 6 1 5 Screening
Roberts EA [58] 2003 Wilson Disease 2 2 2 Diagnosis, management
Disorders of energy metabolism
Angelini [23] 2006 Fatty acid mitochondrial disorders 6 4 5 Diagnosis, management
Arnold GL [59] 2009 Very long chain acyl-CoA dehydrogenase deficiency 14 2 14 Diagnosis, management
Finsterer J [60] 2009 Mitochondrial disorders 18 12 18 Diagnosis
Disorders of lysosomal and lysosomal-related organelles
Andersson [61] 2005 Gaucher disease 10 1 10 Management, follow-up
Bennett RL [62] 2002 Fabry disease 9 1 8 Diagnosis, management, follow-up
Biegstraaten M [63] 2015 Fabry disease 34 15 29 Management
Charrow J [64] 2004 Gaucher disease 11 1 10 Diagnosis, management, follow-up
de Ru MH [65] 2011 Mucopolysaccharidosis type I 16 6 14 Management
Desnick RJ [66] 2003 Fabry disease 9 2 9 Diagnosis, management, follow-up
Eng CM [67] 2006 Fabry disease 13 4 11 Diagnosis, management, follow-up
Fahnehjelm KT [68] 2012 Mucopolysaccharidosis 7 5 5 Diagnosis, management
Giugliani R [69] 2007 Mucopolysaccharidosis VI 3 3 3 Diagnosis, management, follow-up
Grabowski GA [70] 2004 Gaucher disease 11 5 10 Diagnosis, management
Kaplan P [24] 2013 Gaucher disease 11 9 11 Diagnosis, management, follow-up
Kes VB [71] 2013 Fabry disease 16 1 11 Screening, diagnosis, management, follow-up
Laney DA [72] 2013 Fabry disease 9 1 9 Screening, diagnosis, management, follow-up
Langereis EJ [36] 2013 Mucopolysaccharidosis type I 17 8 15 Diagnosis, management, follow-up
Muenzer J [35] 2012 Mucopolysaccharidosis type II 11 6 11 Management, follow-up
Muenzer J [73] 2009 Mucopolysaccharidosis type I 12 6 Unclear Diagnosis, management, follow-up
Ortiz A [74] 2008 Fabry disease 6 5 6 Diagnosis, management, follow-up
Patterson MC [25] 2012 Niemann-Pick disease type C 6 5 6 Diagnosis, management, follow-up
Peters C [75] 2003 Hematopoietic cell transplantation for IMDs Unclear Unclear 2 Management, follow-up
Scarpa M [34] 2011 Mucopolysaccharidosis type II 26 14 25 Screening, diagnosis, management
Solanki GA [76] 2012 Mucopolysaccharidosis type VI 13 4 13 Diagnosis, management, follow-up
Terryn W [77] 2013 Fabry disease 9 5 9 Screening, diagnosis, management, follow-up
Vellodi A [78] 2001 Gaucher disease 8 6 8 Maganement, follow-up
Vom Dahl S [79] 2006 Gaucher disease 7 4 7 Follow-up
Wang RY [80] 2011 Lysosomal storage diseases 4 1 5 Screening, diagnosis, management, follow-up
Weinreb NJ [26] 2004 Gaucher disease 25 14 24 Diagnosis, follow-up
Wraith JE [81] 2009 Niemann-Pick disease type C 13 10 13 Screening, diagnosis, management, follow-up
  1. NIH CDP National institutes of health consensus development panel, BCMSC British Columbia medical services Commission, BCMA British Columbia medical association, EASL European association for study of liver