Table 2 Characteristics of the guidelines and recommendations
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 |