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François Feillet Selected Research

Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)

3/2015Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
1/2015The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin.
1/2015Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
4/2009Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.
1/2008Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
3/2006[Phenylketonuria].

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François Feillet Research Topics

Disease

12Phenylketonurias (Phenylketonuria)
03/2015 - 03/2006
3Epilepsy (Aura)
07/2014 - 12/2008
2Seizures (Seizure)
05/2014 - 12/2008
2Galactosemias (Galactosemia)
01/2011 - 03/2008
1Fibrosis (Cirrhosis)
09/2015
1Body Weight (Weight, Body)
09/2015
1Dyslipidemias (Dyslipidemia)
09/2015
1Maternal Phenylketonuria
09/2014
1Infantile Spasms (West Syndrome)
05/2014
1Infection
05/2013
1Gastritis
05/2013
1Mental Retardation (Idiocy)
11/2012
1Proteinuria
11/2011
1Thyroid Crisis (Thyrotoxic Crisis)
10/2011
1Coma (Comas)
10/2011
1Metabolic Brain Diseases (Encephalopathy, Metabolic)
03/2011
1Bone Diseases (Bone Disease)
12/2010
1Tay-Sachs Disease
02/2010
1Neurodegenerative Diseases (Neurodegenerative Disease)
02/2010
1Adenoma (Adenomas)
04/2009
1Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
02/2009
1Nervous System Diseases (Neurological Disorders)
12/2008
1Graves Disease (Basedow Disease)
12/2008
1Hyperinsulinism (Hyperinsulinemia)
12/2008
1Persistent Hyperinsulinemia Hypoglycemia of Infancy (Congenital Hyperinsulinism)
12/2008
1Fructose Intolerance (Intolerance, Fructose)
08/2008
1Vomiting
03/2008
1Metabolic Diseases (Metabolic Disease)
03/2006
1Weight Gain
09/2004
1Fetal Growth Retardation (Intrauterine Growth Retardation)
09/2004
1Spontaneous Abortion (Miscarriage)
09/2004
1Fetal Diseases (Embryopathy)
09/2004
1Hyperhomocysteinemia
04/2004

Drug/Important Bio-Agent (IBA)

9Phenylalanine (L-Phenylalanine)FDA Link
01/2015 - 09/2004
75,6,7,8-tetrahydrobiopterin (tetrahydrobiopterin)FDA Link
03/2015 - 08/2007
6Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA
03/2015 - 03/2006
2Pyridoxine (Pyridoxin)FDA LinkGeneric
05/2014 - 07/2010
2Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
05/2013 - 11/2011
2Galactose (Galactopyranose)FDA LinkGeneric
01/2011 - 03/2008
2Tyrosine (L-Tyrosine)FDA Link
04/2009 - 03/2006
1LDL CholesterolIBA
09/2015
1Lysosomal acid lipase deficiencyIBA
09/2015
1Citric Acid (Citrate)FDA LinkGeneric
07/2014
1PyridoxalIBA
05/2014
1OxidoreductasesIBA
05/2014
1galactoside 2-alpha-L-fucosyltransferase (Fucosyltransferase 2)IBA
05/2013
1Carnitine (L-Carnitine)FDA LinkGeneric
10/2011
1Asparaginase (Elspar)FDA Link
03/2011
1MicronutrientsIBA
12/2010
1DNA (Deoxyribonucleic Acid)IBA
07/2010
1Pyridoxine-dependent epilepsyIBA
07/2010
1Carbon MonoxideIBA
07/2010
1Anticonvulsants (Antiepileptic Drugs)IBA
07/2010
1beta-N-AcetylhexosaminidasesIBA
02/2010
1Hexosaminidase A (Hex A)IBA
02/2010
1Hepatorenal form of glycogen storage diseaseIBA
04/2009
1miglustat (Zavesca)FDA Link
02/2009
1isovaleric AcidemiaIBA
12/2008
1Guanosine Triphosphate (GTP)IBA
12/2008
1Glutamate DehydrogenaseIBA
12/2008
1Fructose-Bisphosphate Aldolase (Aldolase)IBA
08/2008
1UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)IBA
03/2008
1citrinIBA
03/2008
1Staphylococcal Protein A (A, Protein)IBA
01/2008
1Folic Acid (Vitamin M)FDA LinkGeneric
04/2004
1Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA
04/2004

Therapy/Procedure

1Enzyme Replacement Therapy
09/2015
1Ligation
01/2015
1Intravenous Injections
10/2011
1Hepatectomy
04/2009
1Therapeutic Abortion
09/2004