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Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
TLDR
Analysis of clinical manifestations at diagnosis and over a 6–7 years follow‐up indicated that almost all patients with MPSIII expressed neurological manifestations before the age of 5 years, including language acquisition delay, cognitive delay, and/or abnormal behavior, in contrast to relatively homogeneous early onset manifestations. Expand
Twenty‐two novel mutations in the lysosomal α‐glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II
TLDR
The outcome of the analysis underscores the notion that the clinical phenotype of GSDII is largely dictated by the nature of the mutations in the GAA alleles, which makes DNA analysis a valuable tool to help predict the clinical course of the disease. Expand
The expanding spectrum of disorders with elevated plasma chitotriosidase activity:An update
TLDR
Increased plasma chitotriosidase activity was also observed in fucosidosis, glycogen storage disease type IV, Alagille syndrome and hydrops fetalis due to congenital herpes virus infection. Expand
Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children
TLDR
Comparison of the effects of administration of antibiotics on gut bacterial production of trimethylamine from choline showed they all reduced TMA production to a limited extent, with neomycin being most effective. Expand
Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B
TLDR
The results confirm the high impact of Trp 273 for the function of β-galactosidase and the expression of the Morquio B phenotype and suggest a second domain around the amino acids 400–500 may also be of significance. Expand
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease.
TLDR
A position statement is presented based on the findings of the group about identification and monitoring of at-risk patients threatened by the abrupt withdrawal of treatment, the equitable distribution of residual imiglucerase - and access to alternative treatments including those that have completed phase III clinical trials but have not yet been licensed. Expand
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations
Hofer D, Paul K, Fantur K, Beck M, Roubergue A, Vellodi A, Poorthuis BJ, Michelakakis H, Plecko B, Paschke E. Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease.
TLDR
8 different GBA mutations covering 87% of the mutations identified in Gaucher disease patients diagnosed in Greece were investigated in two ethnic Greek cohorts of patients with sporadic Parkinson's disease and an impressive association with EOPD was found. Expand
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl‐CoA: α‐glucosaminide N‐acetyltransferase (HGSNAT) gene
TLDR
The spectrum of MPS IIIC mutations, their clinical presentation and distribution within the patient population, and speculate how the mutations may affect the structure and function of HGSNAT are discussed. Expand
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele
TLDR
The detrimental cumulative effect of these two mutations at the enzymatic activity level by the heterologous expression of the single and double mutant alleles is confirmed. Expand
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