Sophie Collardeau-Frachon Selected Research

Retrognathia

11/2023

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.

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Sophie Collardeau-Frachon Research Topics

Disease

3	Liver Diseases (Liver Disease) 08/2021 - 11/2014
3	Peroxisomal Disorders (Peroxisomal Disorder) 01/2016 - 07/2015
2	Glycogen Storage Disease Type IV (Andersen's Disease) 11/2023 - 01/2016
2	Cardiomyopathies (Cardiomyopathy) 11/2023 - 01/2021
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2022 - 01/2021
2	Neonatal hemochromatosis 05/2017 - 01/2015
2	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2016 - 07/2015
2	Transaldolase Deficiency 01/2016 - 01/2016
2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2016 - 07/2015
1	Retrognathia 11/2023
1	Muscle Hypotonia (Hypotonia) 11/2023
1	Muscular Atrophy (Muscle Atrophy) 11/2023
1	Arthrogryposis 11/2023
1	Juvenile Arthritis (Juvenile Idiopathic Arthritis) 04/2023
1	progressive familial intrahepatic 1 Cholestasis 01/2023
1	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 02/2022
1	Rare Diseases (Rare Disease) 01/2022
1	Necrosis 01/2022
1	Fever (Fevers) 09/2021
1	Enterocolitis 09/2021
1	Vasoplegia 09/2021
1	Inflammation (Inflammations) 09/2021
1	alpha 1-Antitrypsin Deficiency (alpha 1 Antitrypsin Deficiency) 08/2021
1	Microcephaly 01/2021
1	Epilepsy (Aura) 01/2021
1	Abetalipoproteinemia (Bassen Kornzweig Syndrome) 01/2021
1	Cakut 01/2021
1	Vision Disorders (Hemeralopia) 01/2021
1	Chylomicron retention disease 01/2021
1	Cytomegalovirus Infections (Inclusion Disease) 01/2021
1	Ichthyosis (Xeroderma) 01/2021
1	Hypoglycemia (Reactive Hypoglycemia) 01/2021
1	Hypobetalipoproteinemias (Hypobetalipoproteinemia) 01/2021
1	Kidney Diseases (Kidney Disease) 01/2021
1	Neoplasms (Cancer) 12/2020
1	Hypersensitivity (Allergy) 05/2020
1	Adenoma (Adenomas) 01/2020
1	Sarcoma (Soft Tissue Sarcoma) 01/2020
1	Multidrug-Resistant Tuberculosis (Drug-Resistant Tuberculosis) 10/2019
1	Massive Hepatic Necrosis 10/2019
1	Latent Tuberculosis 10/2019
1	Hemolytic-Uremic Syndrome 01/2019
1	Rupture 01/2019
1	Galloway Mowat syndrome 01/2019
1	Multiple Organ Failure (MODS) 01/2019
1	Thrombotic Microangiopathies 01/2019
1	Biliary Liver Cirrhosis (Primary Biliary Cirrhosis) 01/2019
1	Cholestasis 01/2019
1	Cystic Fibrosis (Mucoviscidosis) 05/2017
1	Autoimmune Hemolytic Anemia (Cold Agglutinin Disease) 05/2017
1	Gaucher Disease (Gaucher's Disease) 05/2017
1	Hepatitis 05/2017
1	Coccidioidomycosis 01/2017
1	Colitis 01/2017
1	Sclerosing Cholangitis 10/2016
1	Atherosclerosis 03/2016
1	Hyperlipidemias (Hyperlipidemia) 03/2016
1	Fetal Death 01/2016

Drug/Important Bio-Agent (IBA)

3	CholesterolIBA 01/2016 - 07/2015
2	SteroidsIBA 04/2023 - 12/2009
2	Proteins (Proteins, Gene)FDA Link 09/2021 - 01/2009
2	LipidsIBA 03/2016 - 10/2014
2	AcidsIBA 01/2016 - 12/2007
1	1,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA 11/2023
1	Antirheumatic Agents (DMARD)IBA 04/2023
1	InterleukinsIBA 04/2023
1	Member 11 Subfamily B ATP Binding Cassette TransporterIBA 01/2023
1	Transforming Growth Factor-beta Type II ReceptorIBA 02/2022
1	FibrinIBA 01/2022
1	Interleukin-18 (Interleukin 18)IBA 09/2021
1	CytokinesIBA 09/2021
1	Cysteamine (Mercaptamine)FDA Link 08/2021
1	endoplasmic reticulum glycoprotein p72IBA 08/2021
1	Protein Disulfide-IsomerasesIBA 08/2021
1	ProteomeIBA 08/2021
1	ApolipoproteinsIBA 01/2021
1	Peptides (Polypeptides)IBA 01/2021
1	Lipoproteins (Lipoprotein)IBA 01/2021
1	Collodion (Nitrocellulose)IBA 01/2021
1	dolichol kinaseIBA 01/2021
1	MyogeninIBA 12/2020
1	AllergensIBA 05/2020
1	Growth Hormone (Somatotropin)IBA 01/2020
1	Levofloxacin (Levaquin)FDA Link 10/2019
1	Pyrazinamide FDA LinkGeneric 10/2019
1	eculizumab FDA Link 01/2019
1	Transfer RNA (tRNA)IBA 01/2019
1	Insulin-Like Growth Factor Binding Protein 1IBA 01/2019
1	Bile Acids and Salts (Bile Acids)IBA 05/2017
1	Dextrans (Dextran)FDA Link 01/2017
1	Interleukin-10 (Interleukin 10)IBA 01/2017
1	SodiumIBA 01/2017
1	oxidized low density lipoproteinIBA 03/2016
1	Lysergic Acid Diethylamide (LSD)IBA 01/2016

Therapy/Procedure

6	Therapeutics 04/2023 - 12/2009
3	Liver Transplantation 01/2019 - 10/2016
1	Artificial Respiration (Mechanical Ventilation) 11/2023
1	Transplantation 01/2023
1	Prenatal Care (Care, Prenatal) 01/2022
1	Surgical Portasystemic Shunt (Portosystemic Shunt) 01/2020