-
1
-
-
84942748557
-
-
Springer-Verlag Berlin Heidelberg
-
Blau N, Duran M, Gibson KM, Dionisi-Vici C (Eds). Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer-Verlag Berlin Heidelberg 2014.
-
(2014)
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
-
-
Blau, N.1
Duran, M.2
Gibson, K.M.3
Dionisi-Vici, C.4
-
3
-
-
0032780351
-
-
Hum Genet
-
Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999;105:151-6.
-
(1999)
The Frequency of Lysosomal Storage Diseases in the Netherlands
, vol.105
, pp. 151-156
-
-
Poorthuis, B.J.1
Wevers, R.A.2
Kleijer, W.J.3
Groener, J.E.4
De Jong, J.G.5
Van Weely, S.6
-
6
-
-
84922005483
-
An overview of inborn errors of complex lipid biosynthesis and remodelling
-
25238787 1:CAS:528:DC%2BC2cXhs1emsr3M
-
Lamari F, Mochel F, Saudubray J-M. An overview of inborn errors of complex lipid biosynthesis and remodelling. J Inherit Metab Dis. 2015;38:3-18.
-
(2015)
J Inherit Metab Dis
, vol.38
, pp. 3-18
-
-
Lamari, F.1
Mochel, F.2
Saudubray, J.-M.3
-
7
-
-
84891915964
-
Appraisal tools for clinical practice guidelines: A systematic review
-
e82915 24349397 3857289
-
Siering U, Eikermann M, Hausner E, Hoffmann-Eßer W, Neugebauer EA. Appraisal tools for clinical practice guidelines: a systematic review. PLoS One. 2013;8, e82915.
-
(2013)
PLoS One
, vol.8
-
-
Siering, U.1
Eikermann, M.2
Hausner, E.3
Hoffmann-Eßer, W.4
Neugebauer, E.A.5
-
8
-
-
77954610761
-
Development of the AGREE II, part 1: Performance, usefulness and areas for improvement
-
20513780 2900328
-
Brouwers MC, Kho ME, Browman GP, Burgers JS, Cluzeau F, Feder G, et al. Development of the AGREE II, part 1: performance, usefulness and areas for improvement. CMAJ. 2010;182:1045-52.
-
(2010)
CMAJ
, vol.182
, pp. 1045-1052
-
-
Brouwers, M.C.1
Kho, M.E.2
Browman, G.P.3
Burgers, J.S.4
Cluzeau, F.5
Feder, G.6
-
9
-
-
84923673998
-
Do guidelines offer implementation advice to target users? A systematic review of guideline applicability
-
e007047 25694459 4336454
-
Gagliardi AR, Brouwers MC. Do guidelines offer implementation advice to target users? A systematic review of guideline applicability. BMJ Open. 2015;5, e007047.
-
(2015)
BMJ Open
, vol.5
-
-
Gagliardi, A.R.1
Brouwers, M.C.2
-
10
-
-
84928958010
-
Guidelines for the use of survivorship care plans: A systematic quality appraisal using the AGREE II instrument
-
25935752 4425878
-
Birken SA, Ellis SD, Walker JS, DiMartino LD, Check DK, Gerstel AA, et al. Guidelines for the use of survivorship care plans: a systematic quality appraisal using the AGREE II instrument. Implement Sci. 2015;10:63.
-
(2015)
Implement Sci
, vol.10
, pp. 63
-
-
Birken, S.A.1
Ellis, S.D.2
Walker, J.S.3
DiMartino, L.D.4
Check, D.K.5
Gerstel, A.A.6
-
11
-
-
84908256041
-
Gaucher disease: The metabolic defect, pathophysiology, phenotypes and natural history
-
25345088 4520262
-
Baris HN, Cohen IJ, Mistry PK. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr Endocrinol Rev. 2014;12 Suppl 1:72-81.
-
(2014)
Pediatr Endocrinol Rev
, vol.12
, pp. 72-81
-
-
Baris, H.N.1
Cohen, I.J.2
Mistry, P.K.3
-
12
-
-
84908224658
-
Management of Gaucher disease: Enzyme replacement therapy
-
25345089
-
Zimran A, Elstein D. Management of Gaucher disease: enzyme replacement therapy. Pediatr Endocrinol Rev. 2014;12 Suppl 1:82-7.
-
(2014)
Pediatr Endocrinol Rev
, vol.12
, pp. 82-87
-
-
Zimran, A.1
Elstein, D.2
-
14
-
-
84936797240
-
Evaluating Guidelines: A Review of Key Quality Criteria
-
26214233 4524962
-
Semlitsch T, Blank WA, Kopp IB, Siering U, Siebenhofer A. Evaluating Guidelines: A Review of Key Quality Criteria. Dtsch Arztebl Int. 2015;112:471-8.
-
(2015)
Dtsch Arztebl Int
, vol.112
, pp. 471-478
-
-
Semlitsch, T.1
Blank, W.A.2
Kopp, I.B.3
Siering, U.4
Siebenhofer, A.5
-
15
-
-
0037323867
-
Development and validation of an international appraisal instrument for assessing the quality of clinical practice guidelines: The AGREE project
-
The AGREE Collaboration.
-
The AGREE Collaboration. Development and validation of an international appraisal instrument for assessing the quality of clinical practice guidelines: the AGREE project. Qual Saf Health Care. 2003;12:18-23.
-
(2003)
Qual Saf Health Care
, vol.12
, pp. 18-23
-
-
-
16
-
-
0034971462
-
How to develop cost-conscious guidelines
-
11427188 1:STN:280:DC%2BD3MzmsF2ntg%3D%3D
-
Eccles M, Mason J. How to develop cost-conscious guidelines. Health Technol Assess. 2001;5:1-69.
-
(2001)
Health Technol Assess
, vol.5
, pp. 1-69
-
-
Eccles, M.1
Mason, J.2
-
17
-
-
84901631593
-
Phenylketonuria scientific review conference: State of the science and future research needs
-
24667081 1:CAS:528:DC%2BC2cXkslCqtL0%3D
-
Camp KM, Parisi M, Acosta PB, Berry GT, Bilder D, Blau N, et al. Phenylketonuria scientific review conference: State of the science and future research needs. Mol Genet Metab. 2014;112:87-122.
-
(2014)
Mol Genet Metab
, vol.112
, pp. 87-122
-
-
Camp, K.M.1
Parisi, M.2
Acosta, P.B.3
Berry, G.T.4
Bilder, D.5
Blau, N.6
-
18
-
-
84863194142
-
Developing clinical practice guidelines: Types of evidence and outcomes; Values and economics, synthesis, grading, and presentation and deriving recommendations
-
22762158 3436711
-
Woolf S, Schünemann HJ, Eccles MP, Grimshaw JM, Shekelle P. Developing clinical practice guidelines: types of evidence and outcomes; values and economics, synthesis, grading, and presentation and deriving recommendations. Implement Sci. 2012;7:61.
-
(2012)
Implement Sci
, vol.7
, pp. 61
-
-
Woolf, S.1
Schünemann, H.J.2
Eccles, M.P.3
Grimshaw, J.M.4
Shekelle, P.5
-
19
-
-
84862094822
-
Suggested Guidelines for the Diagnosis and Management of Urea Cycle Disorders
-
Haeberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, et al. Suggested Guidelines for the Diagnosis and Management of Urea Cycle Disorders. Orphanet J Rare Dis. 2012;7:32.
-
(2012)
Orphanet J Rare Dis
, vol.7
, pp. 32
-
-
Haeberle, J.1
Boddaert, N.2
Burlina, A.3
Chakrapani, A.4
Dixon, M.5
Huemer, M.6
-
20
-
-
79959781632
-
Diagnosis and management of glutaric aciduria type i - Revised recommendations
-
21431622 3109243
-
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, et al. Diagnosis and management of glutaric aciduria type I - Revised recommendations. J Inherit Metab Dis. 2011;34:677-94.
-
(2011)
J Inherit Metab Dis
, vol.34
, pp. 677-694
-
-
Kölker, S.1
Christensen, E.2
Leonard, J.V.3
Greenberg, C.R.4
Boneh, A.5
Burlina, A.B.6
-
21
-
-
79959258576
-
Patient and public involvement in clinical practice guidelines: A knowledge synthesis of existing programs
-
Légaré F, Boivin A, van der Weijden T, Pakenham C, Burgers J, Légaré J, et al. Patient and public involvement in clinical practice guidelines: a knowledge synthesis of existing programs. Med Decis Making. 2011;31:E45-74.
-
(2011)
Med Decis Making
, vol.31
, pp. E45-74
-
-
Légaré F, B.1
-
22
-
-
40849118431
-
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency
-
18155630 1:CAS:528:DC%2BD1cXjtl2ltrk%3D
-
Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, et al. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab. 2008;93:363-70.
-
(2008)
Mol Genet Metab
, vol.93
, pp. 363-370
-
-
Arnold, G.L.1
Koeberl, D.D.2
Matern, D.3
Barshop, B.4
Braverman, N.5
Burton, B.6
-
23
-
-
33747864871
-
Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders
-
16930355 1:STN:280:DC%2BD28rgs1OisA%3D%3D
-
Angelini C, Federico A, Reichmann H, Lombes A, Chinnery P, Turnbull D. Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders. Eur J Neurol. 2006;13:923-9.
-
(2006)
Eur J Neurol
, vol.13
, pp. 923-929
-
-
Angelini, C.1
Federico, A.2
Reichmann, H.3
Lombes, A.4
Chinnery, P.5
Turnbull, D.6
-
24
-
-
84876537820
-
Revised recommendations for the management of Gaucher disease in children
-
22772880 1:CAS:528:DC%2BC3sXkvVKjtLs%3D
-
Kaplan P, Baris H, De Meirleir L, Di Rocco M, El-Beshlawy A, Huemer M, et al. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr. 2013;172:447-58.
-
(2013)
Eur J Pediatr
, vol.172
, pp. 447-458
-
-
Kaplan, P.1
Baris, H.2
De Meirleir, L.3
Di Rocco, M.4
El-Beshlawy, A.5
Huemer, M.6
-
25
-
-
84862532953
-
Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update
-
22572546 1:CAS:528:DC%2BC38Xmslylsr4%3D
-
Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F. Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update. Mol Genet Metab. 2012;106:330-44.
-
(2012)
Mol Genet Metab
, vol.106
, pp. 330-344
-
-
Patterson, M.C.1
Hendriksz, C.J.2
Walterfang, M.3
Sedel, F.4
Vanier, M.T.5
Wijburg, F.6
-
26
-
-
4744358540
-
Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients
-
Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JTR, et al. Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients. Semin Hematol. 2004;41 Suppl 5:15-22.
-
(2004)
Semin Hematol
, vol.41
, pp. 15-22
-
-
Weinreb, N.J.1
Aggio, M.C.2
Andersson, H.C.3
Andria, G.4
Charrow, J.5
Jtr, C.6
-
27
-
-
84893124141
-
Guidance for updating clinical practice guidelines: A systematic review of methodological handbooks
-
24383701 3904688
-
Vernooij RWM, Sanabria AJ, Solà I, Alonso-Coello P, Martínez García L. Guidance for updating clinical practice guidelines: a systematic review of methodological handbooks. Implement Sci. 2014;9:3.
-
(2014)
Implement Sci
, vol.9
, pp. 3
-
-
Vernooij, R.W.M.1
Sanabria, A.J.2
Solà, I.3
Alonso-Coello, P.4
Martínez García, L.5
-
28
-
-
0035928506
-
When should clinical guidelines be updated?
-
11463690 1:STN:280:DC%2BD3MvhsVSlsA%3D%3D 1120790
-
Shekelle P, Eccles MP, Grimshaw JM, Woolf SH. When should clinical guidelines be updated? BMJ. 2001;323:155-7.
-
(2001)
BMJ
, vol.323
, pp. 155-157
-
-
Shekelle, P.1
Eccles, M.P.2
Grimshaw, J.M.3
Woolf, S.H.4
-
29
-
-
33745700723
-
From outdated to updated, keeping clinical guidelines valid
-
16613986
-
Clark E, Donovan EF, Schoettker P. From outdated to updated, keeping clinical guidelines valid. Int J Qual Health Care. 2006;18:165-6.
-
(2006)
Int J Qual Health Care
, vol.18
, pp. 165-166
-
-
Clark, E.1
Donovan, E.F.2
Schoettker, P.3
-
30
-
-
84929668047
-
Current status of newborn screening worldwide: 2015
-
25979780
-
Therrell BL, Padilla CD, Loeber JG, Kneisser I, Saadallah A, Borrajo GJC, et al. Current status of newborn screening worldwide: 2015. Semin Perinatol. 2015;39:171-87.
-
(2015)
Semin Perinatol
, vol.39
, pp. 171-187
-
-
Therrell, B.L.1
Padilla, C.D.2
Loeber, J.G.3
Kneisser, I.4
Saadallah, A.5
Borrajo, G.J.C.6
-
31
-
-
84952369210
-
Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines
-
25690729 4470941
-
Häberle J, Huemer M. Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines. JIMD Rep. 2015;21:65-70.
-
(2015)
JIMD Rep
, vol.21
, pp. 65-70
-
-
Häberle, J.1
Huemer, M.2
-
32
-
-
84859928716
-
Capturing phenotypic heterogeneity in MPS I: Results of an international consensus procedure
-
22524701 3379958
-
De Ru MH, Teunissen QG, van der Lee JH, Beck M, Bodamer O, Clarke L, et al. Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. Orphanet J Rare Dis. 2012;7:22.
-
(2012)
Orphanet J Rare Dis
, vol.7
, pp. 22
-
-
De Ru, M.H.1
Teunissen, Q.G.2
Van Der Lee, J.H.3
Beck, M.4
Bodamer, O.5
Clarke, L.6
-
33
-
-
39149118050
-
Mucopolysaccharidosis type II (Hunter syndrome): A clinical review and recommendations for treatment in the era of enzyme replacement therapy
-
18038146 1:CAS:528:DC%2BD1cXhs1yltLk%3D 2234442
-
Wraith JE, Scarpa M, Beck M, Bodamer O, De Meirleir L, Guffon N, et al. Mucopolysaccharidosis type II (Hunter syndrome): A clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. 2008;167:267-77.
-
(2008)
Eur J Pediatr
, vol.167
, pp. 267-277
-
-
Wraith, J.E.1
Scarpa, M.2
Beck, M.3
Bodamer, O.4
De Meirleir, L.5
Guffon, N.6
-
34
-
-
80355132630
-
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
-
22059643 3223498
-
Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce I, De Meirleir L, et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis. 2011;6:72.
-
(2011)
Orphanet J Rare Dis
, vol.6
, pp. 72
-
-
Scarpa, M.1
Almássy, Z.2
Beck, M.3
Bodamer, O.4
Bruce, I.5
De Meirleir, L.6
-
35
-
-
84857061064
-
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus
-
22037758 1:CAS:528:DC%2BC38XksVKluw%3D%3D 3249184
-
Muenzer J, Bodamer O, Burton B, Clarke L, Frenking GS, Giugliani R, et al. The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus. Eur J Pediatr. 2012;171:181-8.
-
(2012)
Eur J Pediatr
, vol.171
, pp. 181-188
-
-
Muenzer, J.1
Bodamer, O.2
Burton, B.3
Clarke, L.4
Frenking, G.S.5
Giugliani, R.6
-
36
-
-
84884859064
-
Treatment of hip dysplasia in patients with mucopolysaccharidosis type i after hematopoietic stem cell transplantation: Results of an international consensus procedure
-
24088413 3852175
-
Langereis EJ, Borgo A, Crushell E, Harmatz PR, van Hasselt PM, Jones S, et al. Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure. Orphanet J Rare Dis. 2013;8:155.
-
(2013)
Orphanet J Rare Dis
, vol.8
, pp. 155
-
-
Langereis, E.J.1
Borgo, A.2
Crushell, E.3
Harmatz, P.R.4
Van Hasselt, P.M.5
Jones, S.6
-
37
-
-
84908138847
-
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
-
25205257 4180313
-
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman K, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014;9:130.
-
(2014)
Orphanet J Rare Dis
, vol.9
, pp. 130
-
-
Baumgartner, M.R.1
Hörster, F.2
Dionisi-Vici, C.3
Haliloglu, G.4
Karall, D.5
Chapman, K.6
-
38
-
-
84902548281
-
Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach
-
24881969 1:CAS:528:DC%2BC2cXpslCgsbg%3D
-
Frazier DM, Allgeier C, Homer C, Marriage BJ, Ogata B, Rohr F, et al. Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach. Mol Genet Metab. 2014;112:210-7.
-
(2014)
Mol Genet Metab
, vol.112
, pp. 210-217
-
-
Frazier, D.M.1
Allgeier, C.2
Homer, C.3
Marriage, B.J.4
Ogata, B.5
Rohr, F.6
-
39
-
-
33846452131
-
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
-
17203377
-
Kölker S, Christensen E, Leonard JV, Greenberg CR, Burlina B, Burlina P, et al. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis. 2007;30:5-22.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 5-22
-
-
Kölker, S.1
Christensen, E.2
Leonard, J.V.3
Greenberg, C.R.4
Burlina, B.5
Burlina, P.6
-
40
-
-
0034790129
-
National Institutes of Health Consensus Development Conference Statement: Phenylketonuria: Screening and management, October 16-18, 2000
-
National Institutes of Health Consensus Development Panel
-
National Institutes of Health Consensus Development Panel. National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000. Pediatrics. 2001;108:972-82.
-
(2001)
Pediatrics
, vol.108
, pp. 972-982
-
-
-
41
-
-
84898422426
-
Phenylalanine hydroxylase deficiency: Diagnosis and management guideline
-
24385074 1:CAS:528:DC%2BC2cXmt1Wktrw%3D
-
Vockley J, Andersson HC, Antshel KM, Braverman NE, Burton BK, Frazier DM, et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med. 2014;16:188-200.
-
(2014)
Genet Med
, vol.16
, pp. 188-200
-
-
Vockley, J.1
Andersson, H.C.2
Antshel, K.M.3
Braverman, N.E.4
Burton, B.K.5
Frazier, D.M.6
-
42
-
-
84861306041
-
Clinical guidelines for late-onset Pompe disease
-
22492103 1:STN:280:DC%2BC38njs1ahsQ%3D%3D
-
Barba-Romero M, Barrot E, Bautista-Lorite J, Gutierrez-Rivas E, Illa I, Jimenez LM, et al. Clinical guidelines for late-onset Pompe disease. Rev Neurol. 2012;54:497-507.
-
(2012)
Rev Neurol
, vol.54
, pp. 497-507
-
-
Barba-Romero, M.1
Barrot, E.2
Bautista-Lorite, J.3
Gutierrez-Rivas, E.4
Illa, I.5
Jimenez, L.M.6
-
43
-
-
84865960907
-
Primary hyperoxaluria Type 1: Indications for screening and guidance for diagnosis and treatment
-
22547750 1:CAS:528:DC%2BC38XmvVejtrs%3D
-
Cochat P, Hulton S-A, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, et al. Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant. 2012;27:1729-36.
-
(2012)
Nephrol Dial Transplant
, vol.27
, pp. 1729-1736
-
-
Cochat, P.1
Hulton, S.-A.2
Acquaviva, C.3
Danpure, C.J.4
Daudon, M.5
De Marchi, M.6
-
44
-
-
84857066318
-
Consensus treatment recommendations for late-onset Pompe disease
-
22173792 3534745
-
Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012;45:319-33.
-
(2012)
Muscle Nerve
, vol.45
, pp. 319-333
-
-
Cupler, E.J.1
Berger, K.I.2
Leshner, R.T.3
Wolfe, G.I.4
Han, J.J.5
Barohn, R.J.6
-
45
-
-
84908893179
-
Diagnosis and management of glycogen storage disease type I: A practice guideline of the American College of Medical Genetics and Genomics
-
(August)
-
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, et al. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014(August):1-29.
-
(2014)
Genet Med
, pp. 1-29
-
-
Kishnani, P.S.1
Austin, S.L.2
Abdenur, J.E.3
Arn, P.4
Bali, D.S.5
Boney, A.6
-
46
-
-
77955155274
-
Glycogen storage disease type III diagnosis and management guidelines
-
20631546 1:CAS:528:DC%2BC3cXovFersr8%3D
-
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, et al. Glycogen storage disease type III diagnosis and management guidelines. Genet Med. 2010;12:446-63.
-
(2010)
Genet Med
, vol.12
, pp. 446-463
-
-
Kishnani, P.S.1
Austin, S.L.2
Arn, P.3
Bali, D.S.4
Boney, A.5
Case, L.E.6
-
47
-
-
33745589302
-
Pompe disease diagnosis and management guideline
-
16702877 3110959
-
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8:267-88.
-
(2006)
Genet Med
, vol.8
, pp. 267-288
-
-
Kishnani, P.S.1
Steiner, R.D.2
Bali, D.3
Berger, K.4
Byrne, B.J.5
Case, L.E.6
-
48
-
-
0036387478
-
Guidelines for management of glycogen storage disease type i - European Study on Glycogen Storage Disease Type i (ESGSD I)
-
Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP. Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr. 1999;2002(161 Suppl):S112-9.
-
(1999)
Eur J Pediatr
, vol.2002
, Issue.161
, pp. S112-S119
-
-
Rake, J.P.1
Visser, G.2
Labrune, P.3
Leonard, J.V.4
Ullrich, K.5
Smit, G.P.6
-
49
-
-
0036392378
-
Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1
-
Visser G, Rake JP, Labrune P, Leonard JV, Moses S, Ullrich K, et al. Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1. Eur J Pediatr. 2002;161 Suppl:S120-3.
-
(2002)
Eur J Pediatr
, vol.161
, pp. S120-S123
-
-
Visser, G.1
Rake, J.P.2
Labrune, P.3
Leonard, J.V.4
Moses, S.5
Ullrich, K.6
-
50
-
-
38949192583
-
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting
-
18078773 1:CAS:528:DC%2BD1cXhslehtbw%3D
-
Winchester B, Bali D, Bodamer O, Caillaud C, Christensen E, Cooper A, et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting. Mol Genet Metab. 2008;93:275-81.
-
(2008)
Mol Genet Metab
, vol.93
, pp. 275-281
-
-
Winchester, B.1
Bali, D.2
Bodamer, O.3
Caillaud, C.4
Christensen, E.5
Cooper, A.6
-
52
-
-
84904973617
-
Guidelines for the diagnosis and treatment of cobalamin and folate disorders
-
24942828 1:CAS:528:DC%2BC2cXht1egsLnO
-
Devalia V, Hamilton MS, Molloy AM. Guidelines for the diagnosis and treatment of cobalamin and folate disorders. Br J Haematol. 2014;166:496-513.
-
(2014)
Br J Haematol
, vol.166
, pp. 496-513
-
-
Devalia, V.1
Hamilton, M.S.2
Molloy, A.M.3
-
53
-
-
84879425273
-
Guidelines Article Best practice guidelines on clinical management of acute attacks of porphyria and their complications
-
Stein P, Badminton M, Barth J, Rees D, Stewart MF. Guidelines Article Best practice guidelines on clinical management of acute attacks of porphyria and their complications. Ann Clin Biochem. 2013;50(Pt 3):217-23.
-
(2013)
Ann Clin Biochem
, vol.50
, pp. 217-223
-
-
Stein, P.1
Badminton, M.2
Barth, J.3
Rees, D.4
Stewart, M.F.5
-
54
-
-
79959547265
-
Diagnosis and management of hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases
-
Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS. Diagnosis and management of hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011;2011(54):328-43.
-
(2011)
Hepatology
, vol.2011
, Issue.54
, pp. 328-343
-
-
Bacon, B.R.1
Adams, P.C.2
Kowdley, K.V.3
Powell, L.W.4
Tavill, A.S.5
-
56
-
-
84857342910
-
EASL Clinical Practice Guidelines: Wilson's disease (European association or the study of the liver
-
European Association for Study of Liver
-
European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson's disease (European association or the study of the liver. J Hepatol. 2012;56:671-85.
-
(2012)
J Hepatol
, vol.56
, pp. 671-685
-
-
-
57
-
-
25444467719
-
Annals of Internal Medicine Clinical Guidelines Screening for Hereditary Hemochromatosis
-
Qaseem A, Aronson M, Fitterman N, Snow V, Weiss KB. Annals of Internal Medicine Clinical Guidelines Screening for Hereditary Hemochromatosis: A Clinical Practice Guideline from the American College of Physicians. 2005;517-22.
-
(2005)
A Clinical Practice Guideline from the American College of Physicians
, pp. 517-522
-
-
Qaseem, A.1
Aronson, M.2
Fitterman, N.3
Snow, V.4
Weiss, K.B.5
-
58
-
-
0037566015
-
A practice guideline on Wilson disease
-
12774027
-
Roberts E, Schilsky ML. A practice guideline on Wilson disease. Hepatology. 2003;37:1475-92.
-
(2003)
Hepatology
, vol.37
, pp. 1475-1492
-
-
Roberts, E.1
Schilsky, M.L.2
-
59
-
-
60649111860
-
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
-
19157942 1:CAS:528:DC%2BD1MXitVOrurk%3D 3219055
-
Arnold GL, Van Hove J, Freedenberg D, Strauss A, Longo N, Burton B, et al. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2009;96:85-90.
-
(2009)
Mol Genet Metab
, vol.96
, pp. 85-90
-
-
Arnold, G.L.1
Van Hove, J.2
Freedenberg, D.3
Strauss, A.4
Longo, N.5
Burton, B.6
-
60
-
-
70450206923
-
EFNS guidelines on the molecular diagnosis of mitochondrial disorders
-
19950421 1:STN:280:DC%2BD1MjptlSgsA%3D%3D
-
Finsterer J, Harbo HF, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, et al. EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol. 2009;16:1255-64.
-
(2009)
Eur J Neurol
, vol.16
, pp. 1255-1264
-
-
Finsterer, J.1
Harbo, H.F.2
Baets, J.3
Van Broeckhoven, C.4
Di Donato, S.5
Fontaine, B.6
-
61
-
-
20944439209
-
Individualization of long-term enzyme replacement therapy for Gaucher disease
-
15714077 1:CAS:528:DC%2BD2MXhtl2mtL8%3D
-
Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM, Prakash-Cheng A, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med. 2005;7:105-10.
-
(2005)
Genet Med
, vol.7
, pp. 105-110
-
-
Andersson, H.C.1
Charrow, J.2
Kaplan, P.3
Mistry, P.4
Pastores, G.M.5
Prakash-Cheng, A.6
-
62
-
-
0037945380
-
Fabry Disease in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors
-
Bennett RL, Hart KA, O'Rourke E, Barranger JA, Johnson J, MacDermot KD, et al. Fabry Disease in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors. J Genet Couns. 2002;11:121-46
-
(2002)
J Genet Couns
, vol.11
, pp. 121-146
-
-
Bennett, R.L.1
Hart, K.A.2
O'Rourke, E.3
Barranger, J.A.4
Johnson, J.5
MacDermot, K.D.6
-
63
-
-
84961291260
-
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: The European Fabry Working Group consensus document
-
Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J Rare Dis. 2015; 10.
-
(2015)
Orphanet J Rare Dis
, vol.10
-
-
Biegstraaten M, A.1
-
64
-
-
9144251964
-
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: Consensus recommendations
-
14722528 1:CAS:528:DC%2BD2cXosFyg
-
Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, et al. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr. 2004;144:112-20.
-
(2004)
J Pediatr
, vol.144
, pp. 112-120
-
-
Charrow, J.1
Andersson, H.C.2
Kaplan, P.3
Kolodny, E.H.4
Mistry, P.5
Pastores, G.6
-
65
-
-
81155157525
-
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: Results of a European consensus procedure
-
21831279 3170181
-
De Ru MH, Boelens JJ, Das AM, Jones S, van der Lee JH, Mahlaoui N, et al. Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis. 2011;6:55.
-
(2011)
Orphanet J Rare Dis
, vol.6
, pp. 55
-
-
De Ru, M.H.1
Boelens, J.J.2
Das, A.M.3
Jones, S.4
Van Der Lee, J.H.5
Mahlaoui, N.6
-
66
-
-
0037452544
-
Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
-
12585833
-
Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138:338-46.
-
(2003)
Ann Intern Med
, vol.138
, pp. 338-346
-
-
Desnick, R.J.1
Brady, R.2
Barranger, J.3
Collins, A.J.4
Germain, D.P.5
Goldman, M.6
-
67
-
-
33748746594
-
Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement
-
16980809
-
Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006;8:539-48.
-
(2006)
Genet Med
, vol.8
, pp. 539-548
-
-
Eng, C.M.1
Germain, D.P.2
Banikazemi, M.3
Warnock, D.G.4
Wanner, C.5
Hopkin, R.J.6
-
68
-
-
84868204870
-
Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis
-
22136369
-
Fahnehjelm KT, Ashworth JL, Pitz S, Olsson M, Törnquist AL, Lindahl P, et al. Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis. Acta Ophthalmol. 2012;90:595-602.
-
(2012)
Acta Ophthalmol
, vol.90
, pp. 595-602
-
-
Fahnehjelm, K.T.1
Ashworth, J.L.2
Pitz, S.3
Olsson, M.4
Törnquist, A.L.5
Lindahl, P.6
-
69
-
-
34547682071
-
Management guidelines for mucopolysaccharidosis VI
-
17671068
-
Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007;120:405-18.
-
(2007)
Pediatrics
, vol.120
, pp. 405-418
-
-
Giugliani, R.1
Harmatz, P.2
Wraith, J.E.3
-
70
-
-
10744221808
-
Pediatric non-neuronopathic Gaucher disease: Presentation, diagnosis and assessment. Consensus statements
-
Grabowski GA, Andria G, Baldellou A, Campbell PE, Charrow J, Cohen IJ, et al. Pediatric non-neuronopathic Gaucher disease: Presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr 2004, 163:58-66.
-
(2004)
Eur J Pediatr
, vol.163
, pp. 58-66
-
-
Grabowski, G.A.1
Andria, G.2
Baldellou, A.3
Campbell, P.E.4
Charrow, J.5
Cohen, I.J.6
-
71
-
-
84895786160
-
Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease
-
24558776
-
Kes VB, Cesarik M, Zavoreo I, Soldo-Butković S, Kes P, Basić-Jukić N, et al. Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease. Acta Clin Croat. 2013;52:395-405.
-
(2013)
Acta Clin Croat
, vol.52
, pp. 395-405
-
-
Kes, V.B.1
Cesarik, M.2
Zavoreo, I.3
Soldo-Butković, S.4
Kes, P.5
Basić-Jukić, N.6
-
72
-
-
84885479565
-
Fabry disease practice guidelines: Recommendations of the national society of genetic counselors
-
23860966
-
Laney D, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J, et al. Fabry disease practice guidelines: Recommendations of the national society of genetic counselors. J Genet Couns. 2013;22:555-64.
-
(2013)
J Genet Couns
, vol.22
, pp. 555-564
-
-
Laney, D.1
Bennett, R.L.2
Clarke, V.3
Fox, A.4
Hopkin, R.J.5
Johnson, J.6
-
73
-
-
59449100963
-
Mucopolysaccharidosis I: Management and treatment guidelines
-
19117856
-
Muenzer J, Wraith JE, Clarke L. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009;123:19-29.
-
(2009)
Pediatrics
, vol.123
, pp. 19-29
-
-
Muenzer, J.1
Wraith, J.E.2
Clarke, L.3
-
74
-
-
44449115633
-
Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults
-
18431378
-
Ortiz A, Oliveira JP, Wanner C, Brenner BM, Waldek S, Warnock DG. Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults. Nat Clin Pract Nephrol. 2008;4:327-36.
-
(2008)
Nat Clin Pract Nephrol
, vol.4
, pp. 327-336
-
-
Ortiz, A.1
Oliveira, J.P.2
Wanner, C.3
Brenner, B.M.4
Waldek, S.5
Warnock, D.G.6
-
75
-
-
0037295890
-
Hematopoietic cell transplantation for inherited metabolic diseases: An overview of outcomes and practice guidelines
-
12621457 1:STN:280:DC%2BD3s7gslygtg%3D%3D
-
Peters C, Steward CG. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant. 2003;31:229-39.
-
(2003)
Bone Marrow Transplant
, vol.31
, pp. 229-239
-
-
Peters, C.1
Steward, C.G.2
-
76
-
-
84866165908
-
A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI
-
22938833 1:CAS:528:DC%2BC38Xht12js7vK
-
Solanki G, Alden TD, Burton BK, Giugliani R, Horovitz DDG, Jones S, et al. A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI. Mol Genet Metab. 2012;107:15-24.
-
(2012)
Mol Genet Metab
, vol.107
, pp. 15-24
-
-
Solanki, G.1
Alden, T.D.2
Burton, B.K.3
Giugliani, R.4
Horovitz, D.D.G.5
Jones, S.6
-
77
-
-
84874899789
-
Fabry nephropathy: Indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice
-
23234755
-
Terryn W, Cochat P, Froissart R, Ortiz A, Pirson Y, Poppe B, et al. Fabry nephropathy: Indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice. Nephrol Dial Transplant. 2013;28:505-17.
-
(2013)
Nephrol Dial Transplant
, vol.28
, pp. 505-517
-
-
Terryn, W.1
Cochat, P.2
Froissart, R.3
Ortiz, A.4
Pirson, Y.5
Poppe, B.6
-
78
-
-
0034912891
-
Management of neuronopathic Gaucher disease: A European consensus
-
11486896 1:CAS:528:DC%2BD3MXmtVOgtbk%3D
-
Vellodi A, Bembi B, De Villemeur TB, Collin-Histed T, Erikson A, Mengel E, et al. Management of neuronopathic Gaucher disease: A European consensus. J Inherit Metab Dis. 2001;24:319-27.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 319-327
-
-
Vellodi, A.1
Bembi, B.2
De Villemeur, T.B.3
Collin-Histed, T.4
Erikson, A.5
Mengel, E.6
-
79
-
-
33745728033
-
Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients
-
16846538 1:CAS:528:DC%2BD28XnsFGhsb0%3D
-
Vom Dahl S, Poll L, Di Rocco M, Ciana G, Denes C, Mariani G, et al. Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients. Curr Med Res Opin. 2006;22:1045-64.
-
(2006)
Curr Med Res Opin
, vol.22
, pp. 1045-1064
-
-
Vom Dahl, S.1
Poll, L.2
Di Rocco, M.3
Ciana, G.4
Denes, C.5
Mariani, G.6
-
80
-
-
85027936614
-
Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals
-
21502868
-
Wang RY, Bodamer O, Watson MS, Wilcox WR. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011;13:457-84.
-
(2011)
Genet Med
, vol.13
, pp. 457-484
-
-
Wang, R.Y.1
Bodamer, O.2
Watson, M.S.3
Wilcox, W.R.4
-
81
-
-
67849098806
-
Recommendations on the diagnosis and management of Niemann-Pick disease type C
-
19647672 1:CAS:528:DC%2BD1MXptlWktbk%3D
-
Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab. 2009;98:152-65.
-
(2009)
Mol Genet Metab
, vol.98
, pp. 152-165
-
-
Wraith, J.E.1
Baumgartner, M.R.2
Bembi, B.3
Covanis, A.4
Levade, T.5
Mengel, E.6
|