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Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion

Growth impairment together with bone and joint involvement is common to most patients with mucopolysaccharidosis (MPS) disorders. The genetic basis for these metabolic disorders involves various enzyme deficiencies responsible for the catabolism of glycosaminoglycans (GAGs). The incomplete degradation and subsequent accumulation of GAGs result in progressive tissue damage...

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease

. Resources: Marie T. Vanier, SeÂverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P. Germain, Thierry Levade. Supervision: Monique Piraud, David Cheillan. Validation: Magali ... Pettazzoni. Visualization: Roseline Froissart, CeÂcile Pagan, SeÂverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P. Germain, Thierry Levade, Christine Vianey-Saban, Monique Piraud

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

& Simon A. Jones 18 & Yasmina Amraoui 19 & Paul Harmatz 20 & Nathalie Guffon 21 1 2 3 4 5 6 7 8 9 10 Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark Chiesi

Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study

Nathalie Guffon 0 Bndicte Heron Brigitte Chabrol Franois Feillet Vincent Montauban Vassili Valayannopoulos 0 Centre de Reference des Maladies Hereditaires du Metabolisme, Hospices Civils de Lyon Hopital ... Nathalie Guffon has received institutional and travel grants from Shire and has participated in Shire advisory boards. Bndicte Heron has received travel grants, financial support, and honoraria for

Results from a Nationwide Cohort Temporary Utilization Authorization (ATU) Survey of Patients in France Treated with Pheburane® (Sodium Phenylbutyrate) Taste-Masked Granules

Objectives The aim of this study was to describe a nationwide system for pre-marketing follow-up (cohort temporary utilization authorization [ATU] protocol; i.e., ‘therapeutic utilization’) of a new taste-masked formulation of sodium phenylbutyrate (NaPB) granules (Pheburane®) in France and to analyze safety and efficacy in this treated cohort of patients with urea cycle disease...

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study

Alain Fouilhoux 0 7 Aline Cano 6 7 Dries Dobbelaere 5 7 Anais Brassier 4 7 Karine Mention 5 7 Jean-Baptiste Arnoux 4 7 François Feillet 3 7 Brigitte Chabrol 6 7 Nathalie Guffon 0 7 Caroline Elie 7 8

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI

Objective To evaluate the efficacy and safety of two dose levels of galsulfase (Naglazyme®) in infants with MPS VI. Study design This was a phase 4, multicenter, multinational, open-label, two-dose level study. Subjects were randomized 1:1 to receive weekly infusions of 1.0 or 2.0 mg/kg of galsulfase for a minimum of 52 weeks. Progression of skeletal dysplasia was determined by...

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

Pedro Gomez-de Quero 11 Nathalie Guffon 7 Floris C. Hofstede 8 Sema Kalkan-Ucar 5 Mahmut Coker 5 Rosa Lama-More 6 Mercedes Martinez-Pardo Casanova 3 Agustin Molina 4 Samia Pichard 10 Francesco Papadia 1

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

Background Multiple sulfatase deficiency is a rare inherited metabolic disorder caused by mutations in the SUMF1 gene. The disease remains poorly known, often leading to a late diagnosis. This study aimed to provide improved knowledge of the disease, through complete clinical, biochemical, and molecular descriptions of a cohort of unrelated patients. The main objective was to...

Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

Background Hyperammonemia in patients with methylmalonic aciduria (MMA) and propionic aciduria (PA) is caused by accumulation of propionyl-CoA which decreases the synthesis of N-acetyl-glutamate, the natural activator of carbamyl phosphate synthetase 1. A treatment approach with carglumic acid, the structural analogue of N-acetyl-glutamate, has been proposed to decrease high...

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to progressive accumulation of glycosaminoglycans in nearly all cell types, tissues and organs. Clinical manifestations include severe airway obstruction, skeletal deformities, cardiomyopathy and, in most...

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Michael Beck Olaf Bodamer Iain A Bruce Linda De Meirleir Nathalie Guffon Encarna Guilln-Navarro Pauline Hensman Simon Jones 0 Wolfgang Kamin Christoph Kampmann Christina Lampe Christine A Lavery Elisa Leo

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

Pulmonary function is impaired in untreated mucopolysaccharidosis type VI (MPS VI). Pulmonary function was studied in patients during long-term enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB; rhN-acetylgalactosamine 4-sulfatase). Pulmonary function tests prior to and for up to 240 weeks of weekly infusions of rhASB at 1 mg/kg were completed in 56...