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BIBLIOGRAPHY
PUBLISHED ORIGINAL ARTICLES (PEER-REVIEWED JOURNALS)
1. Choudhry VP, Srivastava RN, Vellodi A, Bhuyan UN, Ghai OP. A study of acute renal failure.
Indian Pediatr. 1980 May;17(5):405-10.
2. Coulter JB, Buchannon CR, Vellodi A, Hart CA, Sills JA. Group-A streptococcal infection in the
newborn. Lancet. 1984 Aug 11;2(8398):355-6.
3. Vellodi A, Hobbs J.R., O'Donnell N.M., Coulter B.S., Hugh-Jones K. Treatment of Niemann-Pick
disease type B by allogeneic bone marrow transplantation. Brit.Med.J. 1987:295(6610):1375-76.
4. Hugh-Jones K., Vellodi A, Jones S.T., Hobbs J.R., Rogers T.R., Abdul-Ahad A; Bone marrow
transplanatation for thalassaemia; Westminster Children's Hospital and United Kingdom
experience. Prog.Clin.Biol.Res 1989.;309:201-205,1989.
5. Lortan J.E, Rochfort N.C., El-Tumi M., Vellodi A ; Auto-antibodies after bone marrow
transplantation in children with genetic disorders; relation to chronic graft-versus-host disease.
Bone Marrow Transplantation 1992:9(5);325-330.
6. Lortan J.E, Vellodi A, Jurges E.S., Hugh-Jones K.: Class and subclass specific pneumococcal
antibody levels and response to immunization after bone marrow transplantation.
Clin.Exp.Immunol.1992: 88:512-519.
7. Mahoney A., Soni N., Vellodi A. Anaesthesia and lipidosis: a review of patients treated by bone
marrow transplantation. Paediatric Anaesthesia 1992:2:205-209.
8. Mahoney A., Vellodi A, Soni N. Anaesthesia and mucopolysaccharidoses: a review of patients
treated by bone marrow transplantation. Paediatric Anaesthesia 1992: 12:317-324.
9. Johnson A., Goodall A., Downie C.J.C., Vellodi A, Michael D.P. Bone marrow transplantation for
Glanzmann's Thrombasthenia. Bone Marrow Transplantation 1994: 14:147-150.
10. Vellodi A, Young E., New M., Pot-Mees C., Hugh-Jones K. Bone marrow transplantation for
Sanfilippo disease type B. J.Inherited Metab.Dis.1992:15:911-918.
11. Hopwood J.J., Vellodi A., Scott H.S., Morris C.P., Litjens T., Clements P.R., Brooks D.A., Cooper
A., Wraith J.E. ; Long-term clinical progress in bone marrow transplanted mucopolysaccharidoses
Type 1 patients with a defined genotype. J.Inherited Metab. Dis. 1993: 16: 1024-1033.
12. Vellodi A., Picton S., Downie C., El-Tumi M., Stevens R., Evans D.I.K. Bone marrow
transplantation for thalassaemia; experience of two British Centres. Bone Marrow Transplantation
1994: 13:559-562.
13. Fischer A., Landais P., Friedrich W., Gerritsen B., Fasth A., Porta F., Vellodi A., Benkerrou M. et al:
Bone marrow transplantation in Europe for primary immunodeficiencies other than severe
combined immunodeficiency: A report from the European group for BMT and the European
Group for immunodeficiency. Blood 1994: 83(4):1149-1154.
14. Gerritsen E.J.A, Vosen J.M., Fasth A., Friedrich W., Morgan G., Padmos A., Vellodi A., Porras O.,
O'Meara A., Porta F., Bordigoni P., Cant A., Hermans J., Griscelli C., Fischer A. Bone marrow
transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn
Errors of the European Bone Marrow Transplantation Group. J.Pediatr. 1994: 125(6):896-902.
15. Vellodi A., Cragg H., Winchester B., Young E., Young J., Downie C.J.C., Hoare R.D., Stocks R.,
Bannerjee G.K. Allogeneic bone marrow transplantation for fucosidosis. Bone Marrow
Transplantation 1995: 15: 153-158.
16. Lake BD, Henderson DC, Oakhill A, Vellodi A. Bone marrow transplantation in Batten's disease
(neuronal ceroid-lipofuscinosis). Will it work? Am.J.Med.Genet. 1995:57:369-373.
17. Gatzoulis, M.A., Vellodi A., Redington, A.N. Cardiac involvement in mucopolysaccharidoses:
effects of allogeneic bone marrow transplantation. Arch Dis Child 1995: 73(3):259-260.
18. Haddad, F.S., Jones, D.H., Vellodi A., Kane, N., and Pitt, M. Review of carpal tunnel syndrome in
children [letter]. J Hand Surg Br 1996: 21(4):565-566.
19. Huang, Y., Bron, A.J., Meek, K.M., Vellodi A., and McDonald, B. Ultrastructural study of the
cornea in a bone marrow-transplanted Hurler syndrome patient. Exp Eye Res 1996: 62(4):377-387.
20. Jabado, N., Le Deist, F., Cant, A., De Graeff Meeders, E.R., Fasth, A., Morgan, G., Vellodi A., Hale,
G., Bujan, W., Thomas, C., Cavazzana Calvo, M., Wijdenes, J., and Fischer, A. Bone marrow
transplantation from genetically HLA-nonidentical donors in children with fatal inherited
disorders excluding severe combined immunodeficiencies: use of two monoclonal antibodies to
prevent graft rejection. Pediatrics 1996:98(3 Pt 1):420-428.
21. Vellodi A., Young, E., Cooper, A., Wraith, J.E., Winchester, B., Meaney, C., Ramaswami, U., and
Will, A. Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British
centres. Arch Dis Child 1997:76(2):92-99.
22. Haddad, F.S., Jones, D.H., Vellodi A., Kane, N., and Pitt, M. Carpal tunnel syndrome in the
mucopolysaccharidoses and mucolipidoses. J Bone Joint Surg (Br) 1997: 97-B(4):576-582.
23. Young, E., Chatterton, C., Vellodi A., and Winchester, B. Plasma chitotriosidase activity in
Gaucher disease patients who have been treated either by bone marrow transplantation or enzyme
replacement therapy with alglucerase. J Inherit Metab Dis 1997:20(4):595-602.
24. Papsin BC, Vellodi A, Bailey M, Ratcliffe PC, Leighton SE. Otologic and laryngologic
manifestations of mucopolysaccharidoses after bone marrow transplantation. Otolaryngol. Head
Neck Surg. 1998:118(1): 30-36.
25. Sequeira JS; Vellodi A; Vanier MT; Clayton PT. Niemann-Pick disease type C and defective
peroxisomal beta-oxidation of branched-chain substrates. J.Inherit Metab Dis 1998:21(2), 149-54.
26. Thompson DA; Kriss A; Taylor D; Russell-Eggitt; Hodgkins; Morgan G; Vellodi A; Gerritsen EJA.
Early VEP and ERG evidence of visual dysfunction in autosomal recessive osteopetrosis.
Neuropediatrics 1998:29, 137-144.
27. Beesley CE, Young EP, Vellodi A, Winchester BG. Identification of 12 novel mutations in the
alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome. type B. J Med Genet
1998:Nov;35(11):910-4.
28. Herskhovitz E. Young E. Rainer J. Hall CM. Lidchi V. Chong K. Vellodi A. Bone marrow
transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up. J Inherit Metab Dis.
1999:22(1):50-62.
29. Vellodi A, Young E, Cooper A, Lidchi V, Winchester B, Wraith JE . Long-term follow-up following
bone marrow transplantation for Hunter disease. J Inherit Metab Dis. 1999: 22(5): 638-48.
30. Harris CM, Taylor DS, Vellodi A. Ocular motor abnormalities in Gaucher disease. Neuropediatrics
1999: Dec; 30(6): 289-93.
31. Haddad FS, Hill RA, Vellodi A. Orthopaedic manifestations of mucolipidosis III: an illustrative
case. J Pediatr Orthop B 2000: 9(1):58-61.
32. Flanagan AM, Sarma U, Steward CG, Vellodi A, Horton MA. Study of the nonresorptive
phenotype of osteoclast-like cells from patients with malignant osteopetrosis: a new approach to
investigating pathogenesis. Bone Miner Res. 2000:Feb;15(2): 352-60.
33. Bodamer OA, Vellodi A . Protein, glucose and energy metabolism in Gaucher disease type I. J
Inherit Metab Dis 2000: Feb; 23(1): 86-7, 2000.
34. Wilson CJ, Vellodi A. Autosomal recessive osteopetrosis: diagnosis, management, and outcome.
Arch Dis Child 2000 Nov;83(5):449-52.
35. Beesley CE, Young EP, Vellodi A, Winchester BG. Mutational analysis of Sanfilippo syndrome
type A (MPS IIIA): identification of 13 novel mutations. J Med Genet 2000 Sep;37(9):704-7.
36. Winchester B, Vellodi A, Young E. The molecular basis of lysosomal storage diseases and their
treatment. Biochem Soc Trans Feb 2000; 28(2): 150-4.
37. Leighton SE, Papsin B, Vellodi A, Dinwiddie R, Lane R. Disordered breathing during sleep in
patients with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 2001 Apr 27;58(2):127-38.
38. Vellodi A, Bembi B, de Villemeur TB, Collin-Histed T, Erikson A, Mengel E, Rolfs A, TylkiSzymanska A; Neuronopathic Gaucher Disease Task Force of the European Working Group on
Gaucher Disease. Management of neuronopathic Gaucher disease: a European consensus. J Inherit
Metab Dis 2001 Jun;24(3):319-27.
39. Bamiou DE, Campbell P, Liasis A, Page J, Sirimanna T, Boyd S, Vellodi A, Harris C. Audiometric
abnormalities in children with Gaucher disease type 3. Neuropediatrics 2001 Jun;32(3):136-41.
40. Dalvie SS, Noordeen MH, Vellodi A. Anterior instrumented fusion for thoracolumbar kyphosis in
mucopolysaccharidosis. Spine 2001 Dec 1;26(23):E539-41.
41. Dalvie S, Skinner J, Vellodi A, Noorden MH. Mobile thoracolumbar gibbus in Morquio type A: the
cause of paraparesis and its management. J Pediatr Orthop B 2001 Oct;10(4):328-30.
42. Beesley CE, Meaney CA, Greenland GA, Adams VA, Vellodi A, Young EP, Winchester BG.
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations,
identification of 17 novel mutations and in vitro expression of missense mutations. Hum Genet
2001 Nov;109(5):503-511.
43. Flanagan AM, Massey HM, Wilson C, Vellodi A, Horton MA, Steward CG. Macrophage colonystimulating factor and receptor activator NF-kappaB ligand fail to rescue osteoclast-poor human
malignant infantile osteopetrosis in vitro. Bone 2002 Jan;30(1):85-90.
44. Elcioglu NH, Vellodi A, Hall CM. Dysosteosclerosis: a report of three new cases and evolution of
the radiological findings. J Med Genet. 2002 Aug;39(8):603-7.
45. Olsen E O, McHugh K, Vellodi A. Routine magnetic resonance imaging of the spine in children
with Gaucher disease: does it help therapeutic management? Pediatr Radiol. 2003 Nov;33(11):782-5.
46. Beesley CE, Burke D, Jackson M, Vellodi A, Winchester BG, Young EP. Sanfilippo syndrome type
D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene. J Med Genet
2003 Mar;40(3):192-4.
47. Campbell PE, Harris CM, Sirimanna, Vellodi A. A model of neuronopathic Gaucher disease. J
Inherit Metab Dis 2003. 26(7):629-639.
48. Victor S, Coulter JB, Besley GT, Ellis I, Desnick RJ, Schuchman EH, Vellodi A. Niemann-Pick
disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant. J
Inherit Metab Dis. 2003;26(8):775-85.
49. Baldellou A, Andria G, Campbell PE, Charrow J, Cohen IJ, Grabowski GA, Harris CM, Kaplan P,
McHugh K, Mengel E, Vellodi A. Paediatric non-neuronopathic Gaucher disease:
recommendations for treatment and monitoring. Eur J Pediatr. 2004 Feb;163(2):67-75.
50. Grabowski GA, Andria G, Baldellou A, Campbell PE, Charrow J, Cohen IJ, Harris CM, Kaplan P,
Mengel E, Pocovi M, Vellodi A. Pediatric non-neuronopathic Gaucher disease: presentation,
diagnosis and assessment. Consensus statements. Eur J Pediatr. 2004 Feb;163(2):58-66.
51. McHugh K, Olsen E OE, Vellodi A. Gaucher disease in children: radiology of non-central nervous
system manifestations. Clin Radiol. 2004 Feb;59(2):117-23.
52. Mills K, Vellodi A, Morris P, Cooper D, Morris M, Young E, Winchester B. Monitoring the clinical
and biochemical response to enzyme replacement therapy in three children with Fabry disease.
Eur J Pediatr. 2004 Jul 8.
53. Campbell PE, Harris CM, Vellodi A. Deterioration of the auditory brainstem response in children
with type 3 Gaucher disease. Neurology. 2004 Jul 27;63(2):385-7.
54. Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, Erikson A, Giraldo P,
Goldblatt J, Hollak C, Ida H, Kaplan P, Kolodny EH, Mistry P, Pastores GM, Pires R, PrakeshCheng A, Rosenbloom BE, Scott CR, Sobreira E, Tylki-Szymanska A, Vellodi A, vom Dahl S,
Wappner RS, Zimran A. Gaucher disease type 1: revised recommendations on evaluations and
monitoring for adult patients. Semin Hematol. 2004 Oct;41(4 Suppl 5):15-22.
55. Vellodi A. Lysosomal storage disorders. Br J Haematol. 2005 Feb;128(4):413-31.
56. Mills K, Morris P, Lee P, Vellodi A, Waldek S, Young E, Winchester B. Measurement of urinary
CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry
disease. J Inherit Metab Dis. 2005;28(1):35-48.
57. Vellodi A, Foo Y, Cole TJ. Evaluation of three biochemical markers in the monitoring of Gaucher
disease. J Inherit Metab Dis. 2005;28(4):585-92.
58. Beesley CE, Jackson M, Young EP, Vellodi A, Winchester BG. Molecular defects in Sanfilippo
syndrome type B (mucopolysaccharidosis IIIB). J Inherit Metab Dis. 2005;28(5):759-67.
59. Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, Vellodi A, Martin R, Ramaswami
U, Gucsavas-Calikoglu M, Vijayaraghavan S, Wendt S, Puga A, Ulbrich B, Shinawi M, Cleary M,
Piper D, Conway AM, and Kimura A. A Phase II/III clinical study of enzyme replacement
therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet.Med. 2006
8(8):465-73
60. Vellodi A. Bone marrow transplantation for lysosomal storage disorders. Expert Rev Endocrinol
Metab 2006 1(3);425-438.
61. Sri-Ram K, Vellodi A, Pitt M, Eastwood DM. Carpal tunnel syndrome in lysosomal storage
disorders: simple decompression or external neurolysis? J Pediatr Orthop B. 2007 May;16(3):225-8.
62. Fowler DJ, Anderson G., Vellodi A., M. Malone M., Sebire NJ. Electron Microscopy of Chorionic
Villus samples for Prenatal Diagnosis of Lysosomal Storage Disorders. Ultrastruct Pathol. 2007
Jan-Feb;31(1):15-21.
63. Fowler DJ, Weber MA, Anderson G, Malone M, Sebire NJ, Vellodi A, Ultrastructural Features of
Gaucher Disease Treated with Enzyme Replacement Therapy Presenting as Mesenteric Mass
Lesions. Fetal Pediatr Pathol. 2006 Sep-Oct;25(5):241-8.
64. Davies EH, Surtees R, DeVille C, Schoon I, Vellodi A. A severity scoring tool to assess the
neurological features of neuronopathic Gaucher disease. J.Inherit. Metab. Dis. 2007: Oct;30(5), 76882.
65. Davies EH, Erikson A, Collin-Histed T, Mengel E, Tylki-Symanska A, Vellodi A. Outcome of type
III Gaucher disease on enzyme replacement therapy: review of 55 cases. J.Inherit. Metab. Dis. 2007
Nov;30(6):935-42.
66. Maas M, Hangartner T, Mariani G, McHugh K, Moore S, Grabowski GA, Kaplan P, Vellodi A, Yee
J, Steinbach L. Recommendations for the assessment and monitoring of skeletal manifestations in
children with Gaucher disease. Skeletal Radiol. 2008 Mar;37(3):185-8.
67. Wraith J, Tylki-Szymanska A, Guffon N, Lien Y, Tsimaratos M, Vellodi A, Germain D. Safety and
Efficacy of Enzyme Replacement Therapy with Agalsidase Beta: An International, Open-label
Study in Pediatric Patients with Fabry Disease . J. Pediatrics , 2008: Apr;152(4) , 563 - 570.
68. Chippington S, McHugh K, Vellodi A. Splenic nodules in paediatric Gaucher disease treated by
enzyme replacement therapy. Pediatr Radiol 2008 Jun;38(6):657-60.
69. Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E,
Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I,
Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A. Human osteoclast-poor osteopetrosis
with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. Am J Hum Genet. 2008
Jul;83(1):64-76.
70. Schiffmann R, Fitzgibbon EJ, Harris C, DeVile C, Davies EH, Abel L, van Schaik IN, Benko W,
Timmons M, Ries M, Vellodi A. Randomized, Controlled Trial of Miglustat in Gaucher’s Disease
Type 3. Ann. Neurol. 2008.64(5): 514-522.
71. Beesley C, Young EP, Finnegan N, Jackson M, Mills K, Vellodi A, Cleary M, Winchester BG.
Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV
(DPP-IV; CD26), by SELDI-TOF mass spectrometry. Mol Genet Metab. 2009: Apr;96(4): 218-24.
72. Sharpe L-R, Ancliff P, Amrolia P, Gilmour KC, Vellodi A. Type II Gaucher disease manifesting as
haemophagocytic lymphohistiocytosis. J. Inher. Metab. Dis. 2009 Mar 11. [Epub ahead of print].
73. Wood M, Cleary MA, Alderson L, Vellodi A. Changes in gait pattern as assessed by the GAITRite
walkway system in MPS II patients undergoing enzyme replacement therapy. J. Inherit. Metab.
Dis. 2009 Mar 11. [Epub ahead of print].
74. Jones SA, Almassy Z, Beck M et al. Mortality and cause of death in mucopolysaccharidosis type IIa historical review based on data from the Hunter Outcome Survey (HOS).
J.Inherit.Metab.Dis.2009 Aug;32(4):534-543.
75. Vellodi A, Tylki-Szymanska A, Davies EH, Kolodny E, Bembi B, Collin-Histed T, Mengel E, Erikson A,
Schiffmann R. Management of neuronopathic Gaucher disease: revised recommendations. J. Inherit Metab
Dis. 2009 Oct;32(5):660-4.
76. Mistry PK, Deegan P, Vellodi A, Cole JA, Yeh M, Weinreb NJ. Timing of initiation of enzyme
replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular
necrosis. Br J Haematol. 2009 Nov;147(4):561-70.
77. Hollak CE, Aerts JM, Belmatoug N, Bembi B, Bodamer O, Cappellini D, Collin-Histed T, Cox TM,
Deegan P, Giraldo P, Hughes D, Lukina E, Manuel J, Michelakakis H, Di Rocco M, Vellodi A,
Zimran A. Guidelines for the restart of imiglucerase in patients with Gaucher disease:
Recommendations from the European Working Group on Gaucher disease. Blood Cells Mol Dis.
2010 Mar-Apr;44(2):86-87.
78. Muenzer J, Beck M, Eng CM, Giugliani R, Harmatz P, Martin R, Ramaswami U, Vellodi A, Wraith
JE, Cleary M, Gucsavas-Calikoglu M, Puga AC, Shinawi M, Ulbrich B, Vijayaraghavan S, Wendt S,
Conway AM, Rossi A, Whiteman DA, Kimura A. Long-term, open-labeled extension study of
idursulfase in the treatment of Hunter syndrome. Genet Med. 2010 Dec 10. [Epub ahead of print].
79. Tylki-Szymańska A, Vellodi A , El-Beshlawy A, Cole JA, Kolodny E. Neuronopathic Gaucher
disease: demographic and clinical features of 131 patients enrolled in the International
Collaborative Gaucher Group Neurological Outcomes Subregistry. J Inherit Metab Dis. 2010
Aug;33(4):339-46.
80. Chakrapani A, Vellodi A, Robinson P, Jones S, Wraith JE. Treatment of infantile Pompe disease
with alglucosidase alpha: the UK experience. J Inherit Metab Dis. 2010 Dec;33(6):747-50. Epub 2010
Sep 24.
81. Burton BK, Guffon N, Roberts J, van der Ploeg AT, Jones SA; HOS investigators. Home treatment
with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II
- data from the Hunter Outcome Survey. Mol Genet Metab. 2010 Oct-Nov;101(2-3):123-9. Epub
2010 Jun 23.
82. Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G,
Steiner RD, Parini R; Hunter Outcome Survey Investigators. Importance of surgical history in
diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome
Survey. Genet Med. 2010 Dec;12(12):816-22.
83. Hofer D, Paul K, Fantur K, Beck M, Rouberge A, Vellodi A, Poorthuis BJ,
Michelakakis H, Plecko B, Paschke E. Phenotype determining alleles in GM1 gangliosidosis
patients bearing novel GLB1 mutations. Clin Genet. 2010 Sep;78(3):236-46.
84. Muenzer J, Beck M, Giugliani R, Suzuki Y, Tylki-Szymanska A, Valayannopoulos V, Vellodi A,
Wraith JE. Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the
Hunter Outcome Survey. Genet Med. 2011 Feb;13(2):102-9.
85. Davies EH, Seunarine KK, Banks T, Clark CA, Vellodi A. Brain white matter abnormalities in
paediatric Gaucher Type I and Type III using diffusion tensor imaging. J Inherit Metab Dis. 2011
Apr;34(2):549-53. Epub 2011 Feb 12.
86. Glamuzina E, Fettes E, Bainbridge K, Crook V, Finnegan N, Abulhoul L, Vellodi A. Treatment of
mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points.
J Inherit Metab Dis. 2011 Jun;34(3):749-54. Epub 2011 Feb 16.
87. Davies EH, Mengel E, Tylki-Szymanska A, Kleinotiene G, Reinke J, Vellodi A. Four-year follow-up
of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool. J Inherit
Metab Dis. 2011 May 28. [Epub ahead of print]
88. Burton BK, Whiteman DA et al. Incidence and timing of infusion-related reactions in patients with
mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world
setting: a perspective from the Hunter Outcome Survey (HOS). Mol Genet Metab. 2011
Jun;103(2):113-20.
89. Manwaring V, Prunty H, Bainbridge K, Burke D, Finnegan N, Franses R, Lam A, Vellodi A,
Heales S. Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation
of patients with Pompe and other glycogen storage diseases. J Inherit Metab Dis. 2011 Jun 18.
[Epub ahead of print]
90. de Ru MH, Boelens JJ, Das AM, Jones SA, van der Lee JH, Mahlaoui N, Mengel E, Offringa M,
O'Meara A, Parini R, Rovelli A, Sykora KW, Valayannopoulos V, Vellodi A, Wynn RF, Wijburg
FA. 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 Aug 10;6:55
91. Pangrazio A, Cassani B, Guerrini MM, Crockett JC, Marrella V, Zammataro L, Strina D, Schulz A,
Schlack C, Kornak U, Mellis DJ, Duthie A, Helfrich MH, Durandy A, Moshous D, Vellodi A,
Chiesa R, Veys P, Iacono NL, Vezzoni P, Fischer A, Villa A, Sobacchi C. RANK-dependent
autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations. J Bone
Miner Res. 2011 Nov 9.
92. Wyatt K, Henley W, Anderson L, Anderson R, Nikolaou V, Stein K, Klinger L, Hughes D, Waldek
S, Lachmann R, Mehta A, Vellodi A, Logan S. The effectiveness and cost-effectiveness of enzyme
and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage
disorders. Health Technol Assess. 2012 Oct; 16(39): 1-543.
93. Burke DG, Rahim AA, Waddington SN, Karlsson S, Enquist I, Bhatia K, Mehta A, Vellodi A,
Heales S. Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in
Gaucher leucocytes. J Inherit Metab Dis. 2012 Nov 15.
94. Pangrazio A, Fasth A, Sbardellati A, Orchard PJ, Kasow KA, Raza J, Albayrak C, Albayrak D,
Vanakker OM, De Moerloose B, Vellodi A, Notarangelo LD, Schlack C, Strauss G, Kühl JS,
Caldana E, Iacono NL, Susani L, Kornak U, Schulz A, Vezzoni P, Villa A, Sobacchi C. SNX10
mutations define a subgroup of human Autosomal Recessive Osteopetrosis with variable clinical
severity.J Bone Miner Res. 2012 May;28(5):1041-9.
95. Harmatz P, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, Guffon N, Burton BK,
Hendriksz CJ, Mitchell J, Martins A, Jones S, Guelbert N, Vellodi A, Hollak C, Slasor P, Decker C.
T he Morquio A Clinical Assessment Program: Baseline results illustrating progressive,
multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab. 2013 May;109(1):5461.
96. Cohn GM, Morin I, Whiteman DA; Hunter Outcome Survey Investigators. Development of a
mnemonic screening tool for identifying subjects with Hunter syndrome. Eur J Pediatr. 2013
Jul;172(7):965-70.
97. Jones SA, Parini R, Harmatz P, Giugliani R, Fang J, Mendelsohn NJ; HOS Natural History
Working Group on behalf of HOS Investigators. Mol Genet Metab. 2013 May;109(1).
98. Broomfield A, Gunny R, Ali I, Vellodi A, Prabhakar P. A Clinically Severe Variant of βMannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of
Hydrocephalus. JIMD Rep. 2013;11:93-7.
99. Baruteau J, Broomfield A, Crook V, Finnegan N, Harvey K, Burke D, Burch M, Shepherd G,
Vellodi A. Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe
Disease.JIMD Rep. 2014;12:99-102.
100.
Pangrazio A, Puddu A, Oppo M, Valentini M, Zammataro L, Vellodi A, Gener B, Llano-Rivas
I, Raza J, Atta I, Vezzoni P, Superti-Furga A, Villa A, Sobacchi C. Exome sequencing identifies
CTSK mutations in patients originally diagnosed as intermediate osteopetrosis. Bone. 2014
Feb;59:122-6.
101.
Hendriksz CJ, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, Parini R,
Hughes D, Pastores GM, Lau HA, Al-Sayed MD, Raiman J; STRIVE Investigators, Yang K, Mealiffe
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