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François M Petit Selected Research

Rare Diseases (Rare Disease)

3/2005Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.

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François M Petit Research Topics

Disease

4Muscular Diseases (Myopathy)
05/2021 - 07/2013
3Glycogen Storage Disease Type III (Cori's Disease)
11/2017 - 07/2013
2Muscle Weakness
05/2021 - 05/2012
2Glycogen Storage Disease (Glycogenosis)
03/2021 - 05/2012
2Metabolic Diseases (Metabolic Disease)
03/2021 - 03/2005
1Neoplasms (Cancer)
01/2023
1Squamous Cell Carcinoma of Head and Neck
01/2023
1Sarcoma (Soft Tissue Sarcoma)
01/2023
1Myalgia
05/2021
1Cognitive Dysfunction
05/2021
1Glycogen Storage Disease Type Ix
05/2021
1Muscle Cramp (Cramp)
05/2021
1Myoglobinuria
05/2021
1Inborn Urea Cycle Disorders
03/2021
1Glycogen Storage Disease XIV
07/2013
1Neutral Lipid Storage Disease with Myopathy
02/2013
1Hemolytic Anemia
05/2012
1Rhabdomyolysis
05/2012
1Vacuolar myopathy
05/2012
1Down Syndrome (Down's Syndrome)
03/2009
1Rare Diseases (Rare Disease)
03/2005
1Crigler-Najjar Syndrome
03/2005
1Uniparental Disomy
03/2005

Drug/Important Bio-Agent (IBA)

2GlycogenIBA
05/2021 - 12/2017
2Glycogen Debranching Enzyme System (Glycogen Debranching Enzyme)IBA
11/2017 - 07/2013
1B7-H1 AntigenIBA
01/2023
1TransferasesIBA
01/2023
1tipifarnib (R115777)IBA
01/2023
1Phosphorylase Kinase (Phosphorylase Kinase, Glycogen)IBA
05/2021
1Fatty Acids (Saturated Fatty Acids)IBA
03/2021
1DextrinsIBA
01/2016
1LipidsIBA
12/2013
1PhosphoglucomutaseIBA
07/2013
1Triglycerides (Triacylglycerol)IBA
02/2013
1Lipase (Acid Lipase)FDA Link
02/2013
1PhosphofructokinasesIBA
05/2012
1polyglucosanIBA
05/2012
1Proteins (Proteins, Gene)FDA Link
03/2009
1DNA (Deoxyribonucleic Acid)IBA
03/2005
1Phenylalanine (L-Phenylalanine)FDA Link
03/2005
1Glucuronosyltransferase (UDP Glucuronosyltransferase)IBA
03/2005
1Uridine Diphosphate (UDP)IBA
03/2005
1BilirubinIBA
03/2005

Therapy/Procedure

1Enteral Nutrition (Feeding, Tube)
03/2021