Fumio Endo Selected Research

18-Hydroxylase deficiency

1/2003

A missense mutation (GGC[435Gly]-->AGC[Ser]) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism.

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Fumio Endo Research Topics

Disease

6	Inborn Urea Cycle Disorders 12/2021 - 01/2004
5	Fabry Disease (Fabry's Disease) 01/2020 - 01/2009
5	Inborn Genetic Diseases (Disease, Hereditary) 07/2015 - 01/2003
5	Tyrosinemias (Tyrosinemia) 01/2015 - 02/2000
4	Gaucher Disease (Gaucher's Disease) 06/2022 - 02/2011
4	Glycogen Storage Disease Type II (Pompe's Disease) 12/2021 - 07/2009
4	Brain Diseases (Brain Disorder) 03/2017 - 04/2005
4	Hyperammonemia 10/2016 - 08/2002
4	Intellectual Disability (Idiocy) 08/2014 - 10/2008
3	Ornithine Carbamoyltransferase Deficiency Disease 09/2017 - 07/2016
3	Infections 09/2016 - 08/2004
2	Chronic Kidney Failure (Chronic Renal Failure) 01/2020 - 01/2018
2	Hepatolenticular Degeneration (Wilson's Disease) 03/2017 - 06/2013
2	Hepatic Encephalopathy 03/2017 - 06/2013
2	Methylmalonic acidemia 01/2017 - 12/2016
2	Hypertension (High Blood Pressure) 01/2017 - 04/2010
2	Liver Neoplasms (Liver Cancer) 01/2017 - 01/2015
2	Propionic Acidemia 09/2016 - 08/2002
2	Liver Diseases (Liver Disease) 09/2016 - 12/2013
2	Nephritis 06/2016 - 12/2003
2	Lipoid Nephrosis (Glomerulonephritis, Minimal Change) 06/2016 - 12/2003
2	Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal) 06/2016 - 12/2003
2	IGA Glomerulonephritis (IGA Nephropathy) 06/2016 - 12/2003
2	Purpura 06/2016 - 12/2003
2	Maple Syrup Urine Disease 05/2015 - 01/2005
2	Diabetes Mellitus 02/2014 - 08/2011
2	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 01/2014 - 08/2011
2	Hyperglycemia 01/2014 - 12/2013
2	Neoplasms (Cancer) 05/2009 - 02/2009
1	Neurologic Manifestations (Neurological Manifestations) 12/2021
1	Hyperargininemia 12/2021
1	Maternal Phenylketonuria 01/2021
1	Phenylketonurias (Phenylketonuria) 01/2021
1	Rhabdomyolysis 10/2019
1	Vascular Diseases (Vascular Disease) 09/2019
1	Congenital Abnormalities (Deformity) 09/2019
1	Citrullinemia 09/2017
1	Vomiting 04/2017
1	Weight Gain 04/2017
1	Carbamoyl-Phosphate Synthase I Deficiency Disease 04/2017
1	Inflammation (Inflammations) 03/2017
1	Infarction (Infarctions) 03/2017
1	Acute Liver Failure (Fulminant Hepatic Failure) 03/2017
1	Ischemia 03/2017
1	Stroke (Strokes) 03/2017
1	Gliosis 03/2017
1	Hypoxia (Hypoxemia) 03/2017
1	Lactic Acidosis 01/2017
1	Autistic Disorder (Autism) 01/2017
1	Renal Insufficiency (Renal Failure) 01/2017
1	Acidosis 12/2016
1	Lysinuric Protein Intolerance 10/2016

Drug/Important Bio-Agent (IBA)

8	EnzymesIBA 12/2021 - 02/2000
7	Proteins (Proteins, Gene)FDA Link 04/2017 - 01/2004
6	Amino Acids FDA Link 04/2017 - 01/2004
4	AmmoniaIBA 04/2017 - 09/2012
4	Tyrosine (L-Tyrosine)FDA Link 01/2015 - 02/2000
3	Glucosylceramidase (Glucocerebrosidase)IBA 06/2022 - 09/2016
3	AcidsIBA 12/2021 - 07/2009
3	GalactosidasesIBA 01/2020 - 01/2012
3	Urea (Carbamide)FDA LinkGeneric 09/2019 - 10/2008
3	Glycine (Aminoacetic Acid)FDA LinkGeneric 03/2017 - 05/2009
3	Oxidoreductases (Dehydrogenase)IBA 01/2017 - 01/2003
3	Insulin (Novolin)FDA Link 02/2014 - 08/2011
3	fumarylacetoacetase (fumarylacetoacetate hydrolase)IBA 11/2006 - 02/2000
2	GlucosidasesIBA 12/2021 - 05/2011
2	ArginaseIBA 12/2021 - 09/2017
2	Carnitine (L-Carnitine)FDA LinkGeneric 01/2020 - 01/2018
2	Carbamyl Phosphate (Carbamoyl Phosphate)IBA 09/2017 - 08/2014
2	Chelating AgentsIBA 03/2017 - 06/2013
2	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 03/2017 - 04/2005
2	VitaminsIBA 01/2017 - 12/2013
2	Rituximab (Mabthera)FDA Link 09/2016 - 02/2010
2	SteroidsIBA 09/2016 - 06/2016
2	Indicators and Reagents (Reagents)IBA 08/2014 - 04/2004
2	NitrogenIBA 08/2014 - 01/2004
2	CytokinesIBA 04/2005 - 08/2004
2	Cytochromes c (Cytochrome c)IBA 04/2005 - 04/2004
1	GlycogenIBA 12/2021
1	Coenzymes (Enzyme Cofactors)IBA 01/2021
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2021
1	sapropterin (tetrahydrobiopterin)FDA Link 01/2021
1	Phenylalanine (L-Phenylalanine)FDA Link 01/2021
1	Ligases (Synthetase)IBA 09/2017
1	CitrullineIBA 04/2017
1	N-acetyl glutamate synthetase deficiencyIBA 04/2017
1	Blood Coagulation Factors (Coagulation Factor)IBA 03/2017
1	DNA (Deoxyribonucleic Acid)IBA 01/2017
1	hydrogen sulfite (bisulfite)IBA 01/2017
1	Pyruvic Acid (Pyruvate)IBA 01/2017
1	L-Lactate Dehydrogenase (Lactate Dehydrogenase)IBA 10/2016
1	Amino Acid Transport Systems (Amino Acid Transporter)IBA 10/2016

Therapy/Procedure

12	Liver Transplantation 12/2021 - 02/2009
9	Therapeutics 03/2017 - 02/2010
5	Renal Dialysis (Hemodialysis) 01/2020 - 01/2009
2	Hemodiafiltration 10/2019 - 03/2017
2	Plasma Exchange 03/2017 - 09/2016
1	Conservative Treatment 03/2017
1	Kidney Transplantation 01/2017
1	Protein-Restricted Diet (Diet, Protein Restricted) 12/2016