Affiliation: Hospices Civils de Lyon
- Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare diseaseMaurizio Scarpa
Department of Pediatrics, University of Padua, Padua, Italy
Orphanet J Rare Dis 6:72. 2011..Take-home message: Expertise in recognising and treating patients with MPS II varies widely between countries. This article presents pan-European recommendations for the diagnosis and management of this life-limiting disease...
- Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?Virginie Levrat
Centre de référence Maladies Héréditaires du Métabolisme, Service de Pediatrie, Hopital Edouard Herriot, Lyon, France
Orphanet J Rare Dis 3:2. 2008..A treatment approach with carglumic acid, the structural analogue of N-acetyl-glutamate, has been proposed to decrease high ammonia levels encountered in MMA and PA crises...
- Evaluation of miglustat treatment in patients with type III mucopolysaccharidosis: a randomized, double-blind, placebo-controlled studyNathalie Guffon
Hospices Civils de Lyon, Hopital Femme Mere Enfant, Centre de Référence des Maladies Héréditaires du Métabolisme, Bron, France
J Pediatr 159:838-844.e1. 2011..The secondary outcome measured the evolution of other cognitive tests at 12 months. The safety and tolerability were assessed throughout the study...
- [Enzyme replacement therapy of Fabry's disease: the French experience]Nathalie Guffon
Service de Pediatrie, département des maladies métaboliques, Hopital Edouard Herriot, 5, Place d Arsonval, 69003 Lyon, France
Nephrol Ther 2:S162-6. 2006..Patients with subnormal renal function (GFR > 60 ml/min) remain a stable renal function during the follow-up. The standard dosage was of 1 mg per KgBW every 2 weeks. Related adverse events were described and were usually mild...
- [Gaucher disease and chitotriosidase]N Guffon
Service des Maladies Métaboliques, Hopital Edouard Herriot, 5, Place d Arsonval, 69470 Lyon cedex 03, France
Rev Med Interne 27:S26-9. 2006..For this reason, it is useful to assay this marker before initiating any treatment, and to regularly monitor changes in its levels and concentration, notably in the event of a dosage change or increase in the interval between intakes...
- [Current development and usefulness of biomarkers for Gaucher disease follow up]I Maire
Centre de Référence des Maladies Héréditaires du Métabolisme, Hospices Civils de Lyon, France
Rev Med Interne 28:S187-92. 2007..An assessment every 3 months is recommended during the first year of treatment. Then when clinical goals have been achieved, the frequency can be reduced to every 12 months if the therapeutic scheme is not modified...
- CDG IIx with unusual phenotypeD Cheillan
Service de Biochimie Pédiatrique, Hopital Debrousse, Lyon, France
J Inherit Metab Dis 27:103-4. 2004..N-glycosylation defects are divided into two groups (I and II). CDG group II (types IIa to IIe) refers to defects in the Golgi processing of protein-bound glycans. We report a patient with CDG IIx and an unusual phenotype...
- First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduriaM O Rolland
Service de Biochimie Pédiatrique, Hopital Debrousse, Lyon, France
J Inherit Metab Dis 28:1141-2. 2005..Prenatal diagnosis was offered to a family at risk of mevalonic aciduria. A chorionic villus sample was obtained and both mevalonate kinase activity and mutation analysis were done. An affected fetus was diagnosed...
- Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndromeR Cimaz
Pediatric Department, Hopital Edouard Herriot, Lyon, France
Clin Exp Rheumatol 24:196-202. 2006..We would like to increase the awareness of this type of MPS I disease among rheumatologists and unravel diagnostic pitfalls...
- [Gaucher disease in childhood]V Levrat
Centre de Référence des Maladies Héréditaires du Métabolisme, Hopital Edouard Herriot, 5, Place d Arsonval, 69437 Lyon 03, France
Rev Med Interne 28:S183-6. 2007..Onset in childhood is predictive of a severe and progressive phenotype. The presence of neurological symptoms induces important consequences for treatment, prognosis and genetic counselling...
- [Imerslund-Gräsbeck syndrome]P Choquet
Centre de Référence des Maladies Héréditaires du Métabolisme, Hopital Femme Mere Enfant, 59 Boulevard Pinel, 69500 Bron Lyon, France
Arch Pediatr 16:1559-61. 2009..We discuss the exams to be done with aregenerative macrocytic anemia so as not to underestimate these diagnoses, which each require adapted treatments...
- Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatasePaul Harmatz
Children s Hospital and Research Center Oakland, 747 52nd Street, Oakland, CA 94609, USA
Mol Genet Metab 94:469-75. 2008..Safety was evaluated by compliance, adverse event (AE) reporting and adherence to treatment...
- Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase)J Edmond Wraith
Royal Manchester Children s Hospital, Willink Biochemical Genetics Unit, Hospital Road, Pendlebury, Manchester M27 1HA, United Kingdom
Pediatrics 120:e37-46. 2007..Our objective was to evaluate the safety, pharmacokinetics, and efficacy of laronidase in young, severely affected children with mucopolysaccharidosis I...
- Mutational analysis of 105 mucopolysaccharidosis type VI patientsLitsa Karageorgos
Lysosomal Diseases Research Unit, Department of Genetic Medicine, Children, Youth and Women s Health Service, North Adelaide, South Australia, Australia
Hum Mutat 28:897-903. 2007..This mutation analysis has identified a clear correlation between genotype and urinary GAG that can be used to predict clinical outcome...
- Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry diseaseDominique 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...
- Long-term safety and efficacy of enzyme replacement therapy for Fabry diseaseWilliam 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...
- Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-lPaul Harmatz
Children s Hospital and Research Center at Oakland, California 94609, USA, and Children s Hospital, University of Mainz, Germany
J Pediatr 148:533-539. 2006....
- A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentationManuel Schiff
Departement de Pediatrie, Pavillon S, Hopital Edouard Herriot, Place d Arsonval, 69437 Lyon Cedex 03, France
Mol Genet Metab 87:175-7. 2006..He survived from neonatal lactic acidemia and is alive at 9 years of age with a mild developmental delay. A brain MRI performed by the age of 18 months disclosed an unusual subcortical leucodystrophic process...
- Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid testNathalie Guffon
Maladies Metaboliques, Hopital Edouard Herriot, Lyon, France
J Pediatr 147:260-2. 2005..In patients with subsequently confirmed N-acetylglutamate synthase deficiency, hyperammonemia normalized within 8 hours. This test may be useful in the early diagnosis of patients with suspected urea cycle disorders...
- Long-term follow-up of metachronous marrow-kidney transplantation in severe type II sialidosis: what does success mean?Manuel Schiff
Hopital Edouard Herriot, Pediatrics, Centre de référence Maladies Héréditaires du Métabolisme, Lyon, France
Nephrol Dial Transplant 20:2563-5. 2005
- [Overview of enzyme replacement therapy in mucopolysaccharidosis]Alain Fouilhoux
Centre de Référence des Maladies Héréditaires du Métabolisme, Hopital Edouard Herriot, Lyon 69, France
Presse Med 36:1S96-9. 2007..In these three diseases, enzyme replacement therapy induces a reduction in urinary glycosaminoglycanes excretion and on improvement in functional tests, 6 minutes walk test, pulmonary function test and range of motion...
- Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasmaRoseline Froissart
Laboratoire de Biochimie Pédiatrique, Hopital Debrousse, Lyon, France
Mol Genet Metab 80:307-14. 2003..Thus, G411D is the disease-causing mutation, while D313Y is the first coding sequence variant identified in the human alpha-Gal A gene...
- Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry diseaseJ Edmond Wraith
Royal Manchester Children s Hospital, Manchester, United Kingdom
J Pediatr 152:563-70, 570.e1. 2008....
- Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapyJ Edmond Wraith
Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Hospital Road, Manchester M27 4HA, UK
Eur J Pediatr 167:267-77. 2008..The issue of treating very young patients and those with CNS involvement is also discussed. ERT with idursulfase has the potential to benefit many patients with MPS II, especially if started early in the course of the disease...
- Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studiesEva Schmidt
Universitatsklinikum Munster, Klinik fur Kinder und Jugendmedizin, Albert Schweitzer Str 33, 48149 Munster, Germany
Biochim Biophys Acta 1740:54-9. 2005..In conclusion, overexpression of wild type and mutated NAGS proteins in E. coli provides a suitable tool for functional analysis of NAGS deficiency...
- Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)Stuart J Swiedler
BioMarin Pharmaceutical Inc, Novato, California, USA
Am J Med Genet A 134:144-50. 2005..Pending the collection of longitudinal data, these results suggest that urinary GAG levels predict clinical morbidity, and longer-term survival is associated with urinary GAG levels below a threshold of 100 mug/mg creatinine...
- [Fabry's disease and hypoparathyroidism]Laurent Misery
Service de Dermatologie, 42055 Saint Etienne Cedex, France
Ann Med Interne (Paris) 153:283-5. 2002..Fabry's disease is due to alpha-galactosidase deficiency. This rare lysosomal storage disease is transmitted by recessive X-linked heredity. Sphingolipids (galactosyl-glucosyl-ceramide) accumulate in many organs...