Francesco Porta Selected Research

succinic semialdehyde dehydrogenase deficiency

1/2018

Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability.

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Francesco Porta Research Topics

Disease

16	Phenylketonurias (Phenylketonuria) 12/2020 - 03/2008
4	Methylmalonic acidemia 01/2022 - 07/2015
4	6-pyruvoyl-tetrahydropterin synthase deficiency 09/2020 - 03/2008
3	Inborn Errors Metabolism (Inborn Errors of Metabolism) 08/2022 - 10/2018
3	Glycogen Storage Disease Type II (Pompe's Disease) 12/2018 - 06/2013
2	Hyperprolactinemia 07/2023 - 04/2012
2	Neoplasms (Cancer) 01/2023 - 01/2023
2	Thyrotoxicosis 01/2022 - 01/2020
2	Medium chain acyl CoA dehydrogenase deficiency 01/2021 - 10/2012
2	Knee Osteoarthritis 01/2021 - 04/2012
2	Coma (Comas) 10/2018 - 07/2015
2	Hypercholesterolemia 01/2018 - 02/2016
2	Parkinson Disease (Parkinson's Disease) 11/2016 - 05/2015
2	Hyperammonemia 07/2015 - 03/2010
2	Disease Progression 07/2015 - 05/2015
2	Intellectual Disability (Idiocy) 05/2015 - 03/2010
2	Systemic Scleroderma (Systemic Sclerosis) 08/2011 - 11/2010
2	Necrosis 11/2010 - 11/2010
1	Metabolic Diseases (Metabolic Disease) 06/2023
1	Gastrointestinal Stromal Tumors (Gastrointestinal Stromal Tumor) 01/2023
1	Insulinoma 01/2023
1	Tuberous Sclerosis (Bourneville's Disease) 01/2023
1	Seizures (Absence Seizure) 01/2023
1	Ethylmalonic encephalopathy 12/2022
1	Inborn Genetic Diseases (Disease, Hereditary) 12/2022
1	Homocystinuria 12/2022
1	Methylmalonic acidemia with homocystinuria 01/2022
1	Leukoencephalopathies 01/2022
1	Atypical Hemolytic Uremic Syndrome 01/2022
1	Hyperhomocysteinemia 01/2022
1	Leigh Disease (Leigh's Disease) 02/2021
1	Substance-Related Disorders (Drug Abuse) 01/2021
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 01/2021
1	Movement Disorders (Movement Disorder) 01/2021
1	due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia 01/2020
1	Hypothyroidism 01/2020
1	Argininosuccinic Aciduria 01/2020
1	isovaleric Acidemia 02/2019
1	Muscle Weakness 12/2018
1	Maple Syrup Urine Disease 10/2018
1	Birth Weight (Birth Weights) 10/2018
1	Type B Niemann-Pick Disease 02/2018
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2018

Drug/Important Bio-Agent (IBA)

6	sapropterin (tetrahydrobiopterin)FDA Link 09/2020 - 03/2008
5	Dopamine Agonists (Dopamine Agonist)IBA 07/2023 - 04/2012
5	Phenylalanine (L-Phenylalanine)FDA Link 06/2023 - 05/2008
4	Levodopa (L Dopa)FDA LinkGeneric 07/2023 - 04/2012
4	EnzymesIBA 01/2021 - 04/2011
4	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 09/2020 - 05/2008
3	Thyroid HormonesIBA 01/2022 - 01/2020
3	Amino Acids FDA Link 12/2020 - 01/2020
3	Dihydropteridine Reductase (6,7 Dihydropteridine Reductase)IBA 11/2016 - 03/2008
2	Biogenic Amines (Biogenic Amine)IBA 07/2023 - 09/2020
2	Neurotransmitter Agents (Neurotransmitter)IBA 07/2023 - 01/2021
2	Mixed Function Oxygenases (Monooxygenases)IBA 06/2023 - 12/2020
2	Tyrosine (L-Tyrosine)FDA Link 06/2023 - 12/2020
2	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2022 - 07/2015
2	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2021 - 10/2012
2	chitotriosidaseIBA 02/2018 - 01/2013
2	tetrahydropterinIBA 11/2016 - 04/2012
2	Pramipexole (Mirapex)FDA LinkGeneric 11/2016 - 04/2012
2	ProlactinIBA 01/2016 - 05/2015
2	Dopamine (Intropin)FDA LinkGeneric 05/2015 - 04/2012
2	Fatty Acids (Saturated Fatty Acids)IBA 10/2012 - 03/2010
1	Cabergoline FDA LinkGeneric 07/2023
1	Tryptophan (L-Tryptophan)FDA Link 06/2023
1	Aromatic Amino Acids (Aromatic Amino Acid)IBA 06/2023
1	Fluorodeoxyglucose F18 (Fludeoxyglucose F 18)FDA Link 01/2023
1	trans-sodium crocetinate (crocetin)IBA 01/2023
1	Sulfur Compounds (Compounds, Sulfur)IBA 12/2022
1	SulfitesIBA 12/2022
1	SulfurIBA 12/2022
1	S-sulphocysteineIBA 12/2022
1	Cysteine (L-Cysteine)FDA Link 12/2022
1	molybdopterin (molybdenum cofactor)IBA 12/2022
1	Sulfite OxidaseIBA 12/2022
1	ThiosulfatesIBA 12/2022
1	S-sulfohomocysteineIBA 12/2022
1	HomocysteineIBA 12/2022
1	Methionine (L-Methionine)FDA Link 01/2022
1	Thiamine (Aneurin)FDA Link 02/2021
1	Opioid Analgesics (Opioids)IBA 01/2021
1	Hyaluronic Acid (Hyaluronan)IBA 01/2021
1	Guanosine Triphosphate (GTP)IBA 01/2020
1	3-methylbutyrylcarnitineIBA 02/2019
1	pivaloylcarnitineIBA 02/2019
1	pivalic acidIBA 02/2019
1	alpha-Glucosidases (Acid Maltase)IBA 11/2018
1	GlycogenIBA 11/2018
1	Urea (Carbamide)FDA LinkGeneric 10/2018
1	AmmoniaIBA 10/2018
1	gamma-Aminobutyric Acid (GABA)IBA 01/2018
1	Familial apoceruloplasmin deficiencyIBA 01/2018

Therapy/Procedure

8	Therapeutics 07/2023 - 04/2010
4	Liver Transplantation 01/2020 - 07/2015
2	Secondary Prevention 08/2022 - 12/2017
1	Enzyme Replacement Therapy 12/2018
1	Artificial Respiration (Mechanical Ventilation) 12/2018
1	Renal Replacement Therapy (Therapies, Renal Replacement) 10/2018
1	Hematopoietic Stem Cell Transplantation 02/2018