Roseline Froissart

Roseline Froissart

Service Maladies Héréditaires Du Métabolisme Et Dépistage Néonatal, Centre De Biologie Et De Pathologie Est Chu De Lyon, Lyon, France Umr 5305 Cnrs/ucbl, Lyon, France

Direct Impact

Concepts for which Roseline Froissart has direct influence:

amniotic fluid
hunter syndrome
enzyme replacement therapy
ids transfer
late-onset pompe
ctns gene
overexpressing cells

External impact

Concepts related to the work of other authors for which Roseline Froissart has influence:

g2019s mutation
enzyme replacement therapy
glycogen storage
prenatal diagnosis
dendritic cells
liver transplantation
hunter syndrome

Prominent publications by Roseline Froissart

KOL-Index: 96 Tandem mass spectrometry (MS/MS) is a highly sensitive and specific technique. Thanks to the development of triple quadrupole analyzers, it is becoming more widely used in laboratories working in the field of inborn errors of metabolism. We review here the state of the art of this technique applied to the diagnosis of lysosomal storage disorders (LSDs) and how MS/MS has changed the ...
Known for
Applied Diagnosis | Newborn Screening | Tedious Biochemical Techniques | Pick
KOL-Index: 95 Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, ...
Known for
Hepatomegaly | Acid Glucocerebrosidase Activity | Bone Lesions | Disease-Specific
KOL-Index: 47 Background and objectivesIntravenous imiglucerase enzyme replacement therapy for Gaucher disease type 1 administered every 2 weeks is at variance with the imiglucerase plasma half-life of a few minutes. We hypothesized that studying the pharmacokinetics of imiglucerase in blood Gaucher disease type 1 monocytes would be more relevant for understanding enzyme replacement therapy ...
Known for
Informative Single Parameter | Factorial | Glucocerebrosidase Intra-Monocyte Activity | Enzyme Replacement Therapy Responses
KOL-Index: 45 Patients with type 1 Gaucher disease (GD1) present thrombocytopenia, anemia, organomegaly, and bone complications. Most experts consider that the less aggressive forms do not require specific treatment. However, little is known about the disease course of these forms. The objective of this cross-sectional retrospective study was to compare the clinical, radiological, and laboratory ...
Known for
Bone Lesion Onset | Non-Splenectomized Never-Treated | 19 Women | Gaucher Gd1
KOL-Index: 38 Immunogenicity of recombinant human acid-alpha glucosidase (rhGAA) in enzyme replacement therapy (ERT) is a safety and efficacy concern in the management of late-onset Pompe disease (LOPD). However, long-term effects of ERT on humoral and cellular responses to rhGAA are still poorly understood. To better understand the impact of immunogenicity of rhGAA on the efficacy of ERT, clinical data ...
Known for
Il2 Secretion | Detectable Reactivity | Antibody Titers | Gaa
KOL-Index: 36 Hunter syndrome, an X-linked disorder, results from deficiency of iduronate-2-sulfatase (IDS). Around 40% of independent point mutations at IDS were found at CpG sites as transitional events. The 15 CpG sites in the coding sequences of exons 1 and 2, which are normally hypomethylated, account for very few of transitional mutations. By contrast, the CpG sites in the coding sequences of exon ...
Known for
Ids Cpg | Retained Hypomethylation | Hot Spot | Normal Males
KOL-Index: 33 Establishing correlations between a patient's genotype and clinical phenotype is based on the assumption that the same clinical consequences will be observed in individuals with the same residual function of a specific metabolic step. In mucopolysaccharidosis type II (MPS II; Hunter disease), patients present with a wide clinical spectrum. Furthermore, current methods for measuring the ...
Known for
Response Bone | Mps Illustrates | Determining Genotype
KOL-Index: 30 Recent trials in patients with neurodegenerative diseases documented the safety of gene therapy based on adeno-associated virus (AAV) vectors deposited into the brain. Inborn errors of the metabolism are the most frequent causes of neurodegeneration in pre-adulthood. In Sanfilippo syndrome, a lysosomal storage disease in which heparan sulfate oligosaccharides accumulate, the onset of ...
Known for
Cells Dogs | Acetyl-Glucosaminidase | Serotype 5 Aav Vector | Therapy Brain
KOL-Index: 30 OBJECTIVE: A defect of the lysosomal enzyme alpha-L-iduronidase (IDUA) interrupts the degradation of glycosaminoglycans in mucopolysaccharidosis type I, causing severe neurological manifestations in children with Hurler's syndrome. Delivery of the missing enzyme through stereotactic injection of adeno-associated virus vectors coding for IDUA prevents neuropathology in affected mice. We ...
Known for
Syndrome Delivery | Idua Response | Therapy Brain | Children Hurler
KOL-Index: 30 Inborn errors of metabolism (IEMs) that present with abnormal imaging findings in the second half of pregnancy are mainly lysosomal storage disorders (LSDs), cholesterol synthesis disorders (CSDs), glycogen storage disorder type IV (GSD IV), peroxisomal disorders, mitochondrial fatty acid oxidation defects (FAODs), organic acidurias, aminoacidopathies, congenital disorders of glycosylation ...
Known for
Faods Organic | Disorders Csds | 8-Dehydrocholesterol | Vacuolated Cells Orients

Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et de Pathologie Est CHU de Lyon, Lyon, France UMR 5305 CNRS/UCBL, Lyon, France

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