D P Germain

Summary

Country: France

Publications

  1. pmc Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies
    Dominique P Germain
    Division of Medical Genetics, hôpital Raymond Poincaré AP HP, University of Versailles St Quentin en Yvelines UVSQ, Garches, 92380, France
    Orphanet J Rare Dis 7:91. 2012
  2. ncbi request reprint Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies
    D P Germain
    Laboratoire de Genetique et Biologie Cellulaire, Universite de Versailles St Quentin en Yvelines, Versailles, France
    Int J Clin Pharmacol Ther 47:S111-7. 2009
  3. pmc Fabry disease
    Dominique P Germain
    University of Versailles St Quentin en Yvelines, Faculté de Médecine Paris Ile de France Ouest PIFO, 78035 Versailles, France
    Orphanet J Rare Dis 5:30. 2010
  4. doi request reprint Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme
    David Bodensteiner
    Division of Hematology Oncology, University of Kansas Medical Center, Kansas City, Kansas 66205, USA
    Genet Med 10:353-8. 2008
  5. doi request reprint [Enzyme replacement therapy of lysosomal storage diseases]
    D P Germain
    Université de Versailles St Quentin en Yvelines UVSQ, 78035 Versailles, France
    Rev Med Interne 31:S279-91. 2010
  6. ncbi request reprint [Prenatal diagnosis of Gaucher disease]
    D P Germain
    Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif, Assistance Publique, Hopitaux de Paris, Hopital Raymond Poincare, 104, Boulevard Raymond Poincare, 92380 Garches, France
    Rev Med Interne 28:S193-7. 2007
  7. doi request reprint Uneventful pregnancy outcome after enzyme replacement therapy with agalsidase beta in a heterozygous female with Fabry disease: A case report
    Dominique P Germain
    Division of Medical Genetics, hôpital Raymond Poincaré AP HP, 92380 Garches, France
    Eur J Med Genet 53:111-2. 2010
  8. pmc Ehlers-Danlos syndrome type IV
    Dominique P Germain
    Centre de référence pour la maladie de Fabry et les maladies héréditaires du tissu conjonctif syndromes d Ehlers Danlos, pseudoxanthome élastique, mucopolysaccharidoses, Assistance Publique Hopitaux de Paris, Paris, France
    Orphanet J Rare Dis 2:32. 2007
  9. ncbi request reprint Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of Pseudoxanthoma elasticum patients: possible sequence correction?
    D P Germain
    Department of Genetics, Hopital Broussais, Paris, France
    Hum Mutat 16:449. 2000
  10. ncbi request reprint Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease
    D P Germain
    Département de génétique, Hopital Europeen Georges Pompidou, Paris, France
    Hum Mutat 17:353. 2001

Collaborators

Detail Information

Publications54

  1. pmc Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies
    Dominique P Germain
    Division of Medical Genetics, hôpital Raymond Poincaré AP HP, University of Versailles St Quentin en Yvelines UVSQ, Garches, 92380, France
    Orphanet J Rare Dis 7:91. 2012
    ..We report on the safety and pharmacodynamics of migalastat hydrochloride, an investigational pharmacological chaperone given orally at 150 mg every-other-day...
  2. ncbi request reprint Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies
    D P Germain
    Laboratoire de Genetique et Biologie Cellulaire, Universite de Versailles St Quentin en Yvelines, Versailles, France
    Int J Clin Pharmacol Ther 47:S111-7. 2009
    ..Oral administration of 1-deoxygalactonojirimycin to transgenic mice expressing a mutant form of human alpha-gal A (R301Q) yielded higher alpha-gal A activity in major tissues, compared with untreated transgenic mice...
  3. pmc Fabry disease
    Dominique P Germain
    University of Versailles St Quentin en Yvelines, Faculté de Médecine Paris Ile de France Ouest PIFO, 78035 Versailles, France
    Orphanet J Rare Dis 5:30. 2010
    ....
  4. doi request reprint Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme
    David Bodensteiner
    Division of Hematology Oncology, University of Kansas Medical Center, Kansas City, Kansas 66205, USA
    Genet Med 10:353-8. 2008
    ....
  5. doi request reprint [Enzyme replacement therapy of lysosomal storage diseases]
    D P Germain
    Université de Versailles St Quentin en Yvelines UVSQ, 78035 Versailles, France
    Rev Med Interne 31:S279-91. 2010
    ..Molecular chaperones (e.g. migalastat for Fabry disease) and inhibitors of glucosylceramide synthesis (e.g. eliglustat tartrate for Gaucher disease) are currently under investigation in various clinical trials...
  6. ncbi request reprint [Prenatal diagnosis of Gaucher disease]
    D P Germain
    Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif, Assistance Publique, Hopitaux de Paris, Hopital Raymond Poincare, 104, Boulevard Raymond Poincare, 92380 Garches, France
    Rev Med Interne 28:S193-7. 2007
    ..Improvement in substrate deprivation therapy or gene therapy may provide a cure for patients with these disorders in the future...
  7. doi request reprint Uneventful pregnancy outcome after enzyme replacement therapy with agalsidase beta in a heterozygous female with Fabry disease: A case report
    Dominique P Germain
    Division of Medical Genetics, hôpital Raymond Poincaré AP HP, 92380 Garches, France
    Eur J Med Genet 53:111-2. 2010
    ..The decision to administer ERT during pregnancy should be made on an individual basis, considering the FD status and possible risks...
  8. pmc Ehlers-Danlos syndrome type IV
    Dominique P Germain
    Centre de référence pour la maladie de Fabry et les maladies héréditaires du tissu conjonctif syndromes d Ehlers Danlos, pseudoxanthome élastique, mucopolysaccharidoses, Assistance Publique Hopitaux de Paris, Paris, France
    Orphanet J Rare Dis 2:32. 2007
    ..Conservative approach is usually recommended when caring for a vascular complication in a patient suffering from EDS type IV. Surgery may, however, be required urgently to treat potentially fatal complications...
  9. ncbi request reprint Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of Pseudoxanthoma elasticum patients: possible sequence correction?
    D P Germain
    Department of Genetics, Hopital Broussais, Paris, France
    Hum Mutat 16:449. 2000
  10. ncbi request reprint Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease
    D P Germain
    Département de génétique, Hopital Europeen Georges Pompidou, Paris, France
    Hum Mutat 17:353. 2001
  11. ncbi request reprint Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticum
    J Perdu
    Département de génétique, Hopital Broussais, Paris, France
    Hum Mutat 17:74-5. 2001
    ....
  12. ncbi request reprint Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase
    D P Germain
    Department of Genetics, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015, Paris, France
    Mutat Res 483:89-94. 2001
    ..Our results may help to shed light on the mechanisms underlying this phenomenon which, in the rare instances where it occurs, hampers the efficacy of enzyme replacement therapy...
  13. ncbi request reprint Compressibility of the carotid artery in patients with pseudoxanthoma elasticum
    P Boutouyrie
    Department of Pharmacology, INSERM EMI 0107, , Paris, France
    Hypertension 38:1181-4. 2001
    ..In conclusion, CAW was measurable in vivo and noninvasively in humans. The higher CAW of PXE patients compared with that of control subjects suggests that proteoglycans are important determinants of compressibility...
  14. ncbi request reprint Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches
    D P Germain
    CHU Cochin Port Royal, Universite Rene Descartes, Paris, France
    Biochem Biophys Res Commun 257:708-13. 1999
    ..By use of this strategy, carrier status was accurately assessed in all seven at-risk females tested, whereas enzymatic dosages failed to diagnose or exclude heterozygosity...
  15. ncbi request reprint Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing
    D P Germain
    Département de génétique, Universite Paris VI, Paris, France
    Biochem Biophys Res Commun 274:297-301. 2000
    ..These data indicate that the R1268Q variant in the MRP6 gene does not cause PXE per se. Further studies will elucidate if it may play a role when found in compound heterozygotes...
  16. doi request reprint [Vestibular and cochlear manifestations in Fabry's disease]
    D Malinvaud
    Service d ORL et de Chirurgie Cervico faciale, Hopital Europeen Georges Pompidou, Universite Paris V, Paris Cedex 15, France
    Rev Med Interne 31:S251-6. 2010
    ..Still on study, it may also be active both on hearing loss and vestibular disturbances...
  17. doi request reprint Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study
    Albert A Hagege
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Department of Cardiology, University Paris Descartes, INSERM U 633, Paris, France
    Heart 97:131-6. 2011
    ..The prevalence of FD in patients with LVH of 13 mm or greater, screened using the leucocyte alpha-galactosidase A (α-gal A) activity test, a technique that is difficult to apply routinely, ranged from 0% to 6%...
  18. ncbi request reprint [Enzyme replacement therapies for lysosomal storage disorders.]
    Dominique P Germain
    Unité de Génétique Clinique, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
    Med Sci (Paris) 21:77-83. 2005
    ..double dagger...
  19. ncbi request reprint Chiari type I malformation in four unrelated patients affected with Fabry disease
    Dominique P Germain
    Assistance Publique Hopitaux de Paris, Department of Genetics, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
    Eur J Med Genet 49:419-25. 2006
    ..Whether the association is coincidental or not will need further studies but our data suggest that CMI should be ruled out in all Fabry patients...
  20. ncbi request reprint Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
    Dominique P Germain
    Assistance Publique Hopitaux de Paris, Paris, France
    J Am Soc Nephrol 18:1547-57. 2007
    ..Long-term agalsidase beta therapy stabilizes renal function in patients without renal involvement at baseline, maintains reduction of plasma GL-3, and sustains GL-3 clearance in capillary endothelial cells and multiple renal cell types...
  21. ncbi request reprint [Genetics of Fabry disease: diagnostic and therapeutic implications]
    Dominique P Germain
    Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif syndromes d Ehlers Danlos et pseudoxanthome élastique, Assistance Publique Hopitaux de Paris, Paris 75, France
    Presse Med 36:1S14-9. 2007
    ..The GLA gene has been cloned and more than 300 mutations have been identified. Most of them are private and have been identified in only one family..
  22. ncbi request reprint [Functional renal investigation in Fabry disease]
    Marc Froissart
    Departement de Physiologie, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, INSERM U872 et Université Paris Descartes, Paris 75, France
    Presse Med 36:1S36-42. 2007
    ....
  23. ncbi request reprint [Development of an orphan drug to treat a genetic disease: the paradigm of agalsidase beta]
    Dominique P Germain
    Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif syndromes d Ehlers Danlos et pseudoxanthome élastique, Assistance Publique Hopitaux de Paris, Paris 75, France
    Presse Med 36:1S69-75. 2007
    ....
  24. ncbi request reprint Fabry disease: the need to stratify patient populations to better understand the outcome of enzyme replacement therapy
    Dominique P Germain
    Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif syndromes d Ehlers Danlos et pseudoxanthome élastique, Assistance Publique Hopitaux de Paris, Paris, France
    Clin Ther 29:S17-8. 2007
  25. ncbi request reprint [Recent advances of Fabry disease screening for at risk population.]
    Eric Caudron
    Groupe de Chimie Analytique de Paris Sud, EA 3343, Laboratoire de Chimie Analytique, Faculte de Pharmacie, 5, rue Jean Baptiste Clement, 92296 Chatenay Malabry, France
    Med Sci (Paris) 21:48-50. 2005
    ..Only 9 of these 12 hererozygous women (75 %) present a reduced activity of alpha-galactosidase A. double dagger...
  26. ncbi request reprint [Bone involvement in Fabry disease.]
    Dominique P Germain
    Unité de Génétique Clinique, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
    Med Sci (Paris) 21:43-4. 2005
    ..Using the World Health Organization classification, 20 of the 23 patients (88 %) with FD had either osteopenia (n =11) or osteoporosis (n = 9) at one or both sites. double dagger...
  27. ncbi request reprint [Inherited metabolic cardiomyopathies]
    Dominique P Germain
    Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif syndromes d Ehlers Danlos et pseudoxanthome élastique, Assistance Publique Hopitaux de Paris, Paris 75, France
    Presse Med 36:1S48-54. 2007
    ..In the infantile form of Pompe disease, enzyme replacement therapy with olglucosidase alpha shows efficacy on cardiac failure with a significant regression of ventricular hypertrophy on ECG, echocardiography and radiography..
  28. ncbi request reprint Gaucher's disease: a paradigm for interventional genetics
    D P Germain
    Clinical Genetics Unit, Hopital Europeen Georges Pompidou, Paris, France
    Clin Genet 65:77-86. 2004
    ..Small molecule inhibitors of glucosylceramide synthase are being developed for substrate reduction therapy. Other potential therapeutic options such as chaperon-mediated enzyme enhancement therapy and gene therapy are being explored...
  29. ncbi request reprint Arterial remodelling in Fabry disease
    P Boutouyrie
    Department of Pharmacology, INSERM EMI 107, Hopital Europeen Georges Pompidou, Paris, France
    Acta Paediatr Suppl 91:62-6. 2002
    ..We therefore set out to compare parameters of arterial wall structure and function in a cohort of patients with Fabry disease and an age-matched control group...
  30. pmc Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease
    D P Germain
    Laboratoire de Génétique et Pathologie Métabolique, Institut National de la Santé et de la Recherche Médicale INSERM U 129, Paris, France
    Am J Hum Genet 63:415-27. 1998
    ..The observed influence of multifactorial control on this monogenic disease is discussed...
  31. ncbi request reprint Endothelial markers and homocysteine in patients with classic Fabry disease
    K Demuth
    Department of Biochemistry, Hopital Europeen Georges Pompidou, Paris, France
    Acta Paediatr Suppl 91:57-61. 2002
    ....
  32. ncbi request reprint Fabry disease: a functional and anatomical study of cardiac manifestations in 20 hemizygous male patients
    M Senechal
    Department of Genetics, Hopital Europeen Georges Pompidou, Paris, France
    Clin Genet 63:46-52. 2003
    ..Cardiologists should be aware of the diagnosis of Fabry disease in patients presenting with LVH, concentric remodeling, mitral and aortic valve thickening on echocardiography, short PR interval and conduction defects on ECG...
  33. ncbi request reprint Clinical and genetic features of vascular Ehlers-Danlos syndrome
    Dominique P Germain
    Unité de Génétique Clinique, Hopital Europeen Georges Pompidou, Paris, France
    Ann Vasc Surg 16:391-7. 2002
    ..Diagnosis should be suspected in any young person presenting with arterial or visceral rupture, carotid dissection, or colonic perforation. There are currently no specific treatments for EDS...
  34. pmc Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes
    Dominique P Germain
    Department of Genetics, Hopital Europeen Georges Pompidou, Paris, France
    Mol Med 8:306-12. 2002
    ....
  35. ncbi request reprint Vascular Ehlers-Danlos syndrome
    Dominique P Germain
    Clinical Genetics Unit, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015, Paris, France
    Ann Genet 47:1-9. 2004
    ....
  36. ncbi request reprint Increased carotid wall stress in vascular Ehlers-Danlos syndrome
    Pierre Boutouyrie
    Department of Pharmacology and INSERM EMI 0107, Hopital Europeen Georges Pompidou, Paris, France
    Circulation 109:1530-5. 2004
    ..Affected patients are at risk for arterial dissection or rupture, the main cause of death. To understand the pathogenesis of the vascular lesions, we used a biomechanical approach and determined steady and pulsatile wall stress...
  37. doi request reprint Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial
    Kim Thanh Ong
    Assistance Publique, Hopitaux de Paris, Hopital Europeen Georges Pompidou, Paris, France
    Lancet 376:1476-84. 2010
    ..Our aim was to assess the ability of celiprolol, a β(1)-adrenoceptor antagonist with a β(2)-adrenoceptor agonist action, to prevent arterial dissections and ruptures in vascular Ehlers-Danlos syndrome...
  38. ncbi request reprint [Lysosomes and lysosomal storage diseases]
    Dominique P Germain
    Département de génétique, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
    J Soc Biol 196:127-34. 2002
    ....
  39. doi request reprint Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase beta
    Atul Mehta
    Mol Genet Metab 95:114-5. 2008
  40. doi request reprint Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease
    J Edmond Wraith
    Royal Manchester Children s Hospital, Manchester, United Kingdom
    J Pediatr 152:563-70, 570.e1. 2008
    ....
  41. ncbi request reprint Fabry disease: recent advances in enzyme replacement therapy
    Dominique P Germain
    Department of Genetics, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France
    Expert Opin Investig Drugs 11:1467-76. 2002
    ..The complexity and relative rarity of Fabry disease necessitates a multi-disciplinary team approach that may be facilitated by a disease registry...
  42. ncbi request reprint [Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations]
    Dominique P Germain
    Unité de Génétique Clinique, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015 Paris
    J Soc Biol 196:183-90. 2002
    ..Long term safety and efficacy of replacement therapy are currently being investigated. Substrate deprivation and gene therapy may also prove future alternative therapeutic options...
  43. ncbi request reprint Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease
    Christiane Auray-Blais
    Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Universite de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, Que, Canada J1H 5N4
    Mol Genet Metab 93:331-40. 2008
    ..0001) and treatment (p = 0.0011). In conclusion, we studied 35 mutations in 110 children and adults with Fabry disease and found a significant correlation between the types of mutations and total Gb3 excretion in Fabry patients...
  44. ncbi request reprint Atmospheric pressure photoionization coupled to porous graphitic carbon liquid chromatography for the analysis of globotriaosylceramides. Application to Fabry disease
    Arnaud Delobel
    Laboratoire de Spectrometrie de masse, Institut de Chimie des Substances Naturelles, CNRS, Avenue de la Terrasse, 91198 Gif sur Yvette, Cedex, France
    J Mass Spectrom 41:50-8. 2006
    ..This method could be an interesting analytical tool for the biochemical investigation of (sphingo) lipid metabolism...
  45. ncbi request reprint Fabry disease: guidelines for the evaluation and management of multi-organ system involvement
    Christine M Eng
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Genet Med 8:539-48. 2006
    ....
  46. pmc Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
    William R Wilcox
    Cedars Sinai Burns and Allen Research Institute and UCLA School of Medicine, Los Angeles, CA, USA
    Am J Hum Genet 75:65-74. 2004
    ..Thus, enzyme replacement therapy for 30-36 mo with agalsidase beta resulted in continuously decreased plasma GL-3 levels, sustained endothelial GL-3 clearance, stable kidney function, and a favorable safety profile...
  47. ncbi request reprint Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy
    Robert J Desnick
    Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Ann Intern Med 138:338-46. 2003
    ....
  48. ncbi request reprint Cystatin C as a marker of early changes of renal function in Fabry nephropathy
    Sandro Feriozzi
    Nephrology and Dialysis Unit, Ospedale Belcolle, Viterbo, Italy
    J Nephrol 20:437-43. 2007
    ..The use of cystatin C as a marker of glomerular filtration rate (GFR) was investigated in Fabry patients receiving ERT...
  49. ncbi request reprint Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry
    William R Wilcox
    Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Blvd SSB, Los Angeles, CA 90048, USA
    Mol Genet Metab 93:112-28. 2008
    ..Thus, females with FD have a significant risk for major organ involvement and decreased QoL. Females should be regularly monitored for signs and symptoms of FD, and considered for enzyme replacement therapy...
  50. ncbi request reprint [Laboratory diagnosis of Fabry disease: historical perspectives and recent breakthroughs]
    Eric Caudron
    Groupe de Chimie Analytique de Paris Sud, EA 4041 IFR 141, Faculte de Pharmacie Paris XI, Chatenay Malabry, France
    Presse Med 36:1S76-81. 2007
    ....
  51. ncbi request reprint Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease
    Dominique P Germain
    Clin Genet 68:93-5. 2005
  52. ncbi request reprint [A new imaging technique as a diagnostic tool: mass spectrometry]
    David Touboul
    Institut de Chimie des Substances Naturelles, CNRS, Avenue de la Terrasse, Gif sur Yvette 91, France
    Presse Med 36:1S82-7. 2007
    ..The particular case of the Fabry disease is presented here in order to illustrate the present capabilities of this novel chemical imaging approach...
  53. ncbi request reprint [Current practice in Fabry disease: a comprehensive multidisciplinary approach]
    Dominique P Germain
    Presse Med 36:1S3-6. 2007
  54. ncbi request reprint Fast fingerprinting by MALDI-TOF mass spectrometry of urinary sediment glycosphingolipids in Fabry disease
    David Touboul
    Laboratoire de Spectrometrie de masse, Institut de Chimie des Substances Naturelles ICSN CNRS, av de la Terrasse, 91198, Gif sur Yvette Cedex, France
    Anal Bioanal Chem 382:1209-16. 2005
    ....