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R Froissart Selected Research

Factor V (Coagulation Factor V)

5/2017[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].

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R Froissart Research Topics

Disease

4Mucopolysaccharidosis I (Hurler Syndrome)
12/2009 - 06/2003
3Fabry Disease (Fabry's Disease)
12/2010 - 12/2010
2Glycogen Storage Disease Type II (Pompe's Disease)
01/2017 - 12/2008
2Gaucher Disease (Gaucher's Disease)
10/2007 - 03/2006
2Mucopolysaccharidoses
03/2007 - 01/2001
1Colic (Abdominal Cramps)
02/2018
1Hypergammaglobulinemia (Hyperimmunoglobulinemia)
05/2017
1Paraproteinemias (Monoclonal Gammopathy)
05/2017
1Thrombocytopenia (Thrombopenia)
05/2017
1Muscular Diseases (Myopathy)
01/2017
1Pectus Carinatum
12/2016
1Congenital Abnormalities (Deformity)
12/2016
1Mucopolysaccharidosis IV (Morquio Syndrome)
12/2016
1Galactosemias (Galactosemia)
09/2012
1Fructose Intolerance (Intolerance, Fructose)
09/2012
1Fetal Growth Retardation (Intrauterine Growth Retardation)
09/2012
1Metabolic Diseases (Metabolic Disease)
09/2012
1Microcephaly
09/2012
1Brain Diseases (Brain Disorder)
09/2012
1Phenylketonurias (Phenylketonuria)
09/2012
1Spontaneous Abortion (Miscarriage)
09/2012
1Transaldolase Deficiency
09/2012
1Zellweger Syndrome (Zellweger's Syndrome)
09/2012
1Spinal Dysraphism (Spina Bifida)
09/2012
1HELLP Syndrome
09/2012
1Smith-Lemli-Opitz Syndrome
09/2012
1Intracranial Hypertension
11/2009
1Leukocytosis (Pleocytosis)
11/2009
1Cardiomegaly (Heart Hypertrophy)
12/2008
1Nonketotic Hyperglycinemia
02/2006
1Cystic Lymphangioma (Hygroma)
12/2005
1Lysosomal Storage Diseases (Lysosomal Storage Disease)
11/2005
1Mucopolysaccharidosis III (Sanfilippo Syndrome)
01/2005

Drug/Important Bio-Agent (IBA)

4Biological ProductsIBA
05/2017 - 01/2001
3EnzymesIBA
01/2017 - 12/2010
3Proteins (Proteins, Gene)FDA Link
09/2012 - 02/2006
2GlycogenIBA
01/2017 - 12/2008
2AcidsIBA
01/2017 - 09/2012
2Biomarkers (Surrogate Marker)IBA
10/2007 - 03/2006
1chitotriosidaseIBA
05/2017
1HDL LipoproteinsIBA
05/2017
1Prothrombin (Factor II)IBA
05/2017
1Factor V (Coagulation Factor V)IBA
05/2017
1HDL CholesterolIBA
05/2017
1alpha-Glucosidases (Acid Maltase)IBA
01/2017
1Glutamate-Ammonia Ligase (Glutamine Synthetase)IBA
09/2012
1Folic Acid (Vitamin M)FDA LinkGeneric
09/2012
1Fatty Acids (Saturated Fatty Acids)IBA
09/2012
1Amino AcidsFDA Link
09/2012
1PoisonsIBA
09/2012
1SugarsIBA
09/2012
1Serine (L-Serine)FDA Link
09/2012
1Urea (Carbamide)FDA LinkGeneric
09/2012
1acylcarnitineIBA
09/2012
1GalactosidasesIBA
12/2010
1globotriaosylceramide (globotriosylceramide)IBA
12/2010
1alpha-Galactosidase (Beano)IBA
12/2010
1SteroidsIBA
11/2009
1Azathioprine (Imuran)FDA LinkGeneric
11/2009
1Glucosylceramides (Glucocerebrosides)IBA
10/2007
1HydrolasesIBA
10/2007
1Iduronidase (alpha-L-Iduronidase)IBA
10/2007
1ChemokinesIBA
10/2007
1CytokinesIBA
10/2007
1GlycosaminoglycansIBA
03/2007
1glycine cleavage systemIBA
02/2006
11,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA
12/2005
1Lysergic Acid Diethylamide (LSD)IBA
11/2005
1Nonsense Codon (Nonsense Mutation)IBA
01/2005

Therapy/Procedure

3Enzyme Replacement Therapy
12/2016 - 12/2008
1Therapeutics
02/2018
1Decompression
12/2016
1Bone Marrow Transplantation (Transplantation, Bone Marrow)
12/2009
1Stem Cell Transplantation
06/2003