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Tomoyuki Akiyama Selected Research

Dihydropyrimidinase Deficiency

3/2019A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis.

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Tomoyuki Akiyama Research Topics

Disease

15Seizures (Absence Seizure)
01/2022 - 12/2005
9Epilepsy (Aura)
02/2021 - 01/2004
8Hypophosphatasia
01/2022 - 01/2018
7Drug Resistant Epilepsy
05/2020 - 12/2009
6Tuberous Sclerosis (Bourneville's Disease)
02/2021 - 12/2009
5Infantile Spasms (West Syndrome)
02/2021 - 05/2010
5Spasm (Spasms)
03/2020 - 12/2005
4Partial Epilepsies (Epilepsy, Partial)
01/2021 - 03/2006
4Hemorrhage
01/2011 - 01/2007
3Pyridoxine-dependent epilepsy
12/2020 - 01/2018
3Neoplasms (Cancer)
05/2010 - 07/2009
2Focal cortical dysplasia of Taylor
01/2022 - 07/2021
2Body Weight (Weight, Body)
01/2022 - 01/2012
2Intellectual Disability (Idiocy)
02/2021 - 01/2020
2Brain Diseases (Brain Disorder)
10/2020 - 05/2020
2Hypertension (High Blood Pressure)
01/2012 - 04/2010
2Ulcer
01/2011 - 01/2009
2Esophageal and Gastric Varices (Esophageal Varices)
05/2010 - 01/2007
2Gastrointestinal Diseases (Functional Gastrointestinal Disorders)
05/2009 - 07/2007
2Bone Resorption
03/2003 - 12/2002
1Fatigue
01/2022
1Pain (Aches)
01/2022
1Focal Cortical Dysplasia
01/2022
1Disease Progression
01/2022
1Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder)
10/2021
1Febrile Seizures (Febrile Seizure)
10/2021
1Angiofibroma
02/2021
1Astrocytoma (Pilocytic Astrocytoma)
02/2021
1Gliosis
02/2021
1Malformations of Cortical Development
02/2021
1Musculoskeletal Pain
12/2020
1Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
12/2020
1Congenital Abnormalities (Deformity)
03/2020
1Muscle Weakness
03/2020
1Asphyxia (Suffocation)
03/2020
1Odontohypophosphatasia
01/2020
1Oral Manifestations
01/2020
1Asthma (Bronchial Asthma)
12/2019
1Perinatal Lethal Hypophosphatasia
09/2019
1Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome)
09/2019
1Dystonia (Limb Dystonia)
09/2019
1Dihydropyrimidinase Deficiency
03/2019
1Metabolic Bone Diseases (Osteopenia)
01/2018
1Respiratory Insufficiency (Respiratory Failure)
01/2018
1Peripheral Nervous System Diseases (PNS Diseases)
03/2017
1Polyneuropathies (Polyneuropathy)
03/2017
1Aromatic amino acid decarboxylase deficiency
02/2017
1Lymphangioleiomyomatosis (Lymphangiomyomatosis)
01/2017
1Hamartoma
01/2017
1Precursor T-Cell Lymphoblastic Leukemia-Lymphoma (T-ALL)
10/2016
1succinic semialdehyde dehydrogenase deficiency
10/2016

Drug/Important Bio-Agent (IBA)

8N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA
01/2022 - 01/2018
7trans-sodium crocetinate (crocetin)IBA
02/2021 - 12/2009
5Alkaline PhosphataseIBA
01/2022 - 09/2019
5asfotase alfaIBA
01/2022 - 09/2019
5Anticonvulsants (Antiepileptic Drugs)IBA
07/2021 - 01/2004
5Vitamin B 6IBA
05/2020 - 01/2018
5Aspirin (Acetylsalicylic Acid)FDA LinkGeneric
01/2012 - 01/2009
4Pharmaceutical PreparationsIBA
12/2020 - 05/2010
4PyridoxalIBA
12/2020 - 03/2017
4Adrenocorticotropic Hormone (ACTH)FDA Link
10/2020 - 01/2015
3Pyridoxine (Pyridoxin)FDA LinkGeneric
01/2020 - 01/2018
3Folic Acid (Vitamin M)FDA LinkGeneric
03/2017 - 09/2016
2Sirolimus (Rapamycin)FDA Link
01/2022 - 07/2021
2Hypnotics and Sedatives (Sedatives)IBA
10/2021 - 05/2010
2Indicators and Reagents (Reagents)IBA
12/2020 - 01/2018
2Zonisamide (Zonegran)FDA LinkGeneric
02/2020 - 05/2010
2Levetiracetam (Keppra)FDA LinkGeneric
02/2020 - 05/2010
2EnzymesIBA
12/2019 - 10/2016
2Immunoglobulin E (IgE)IBA
12/2019 - 07/2011
2Pyridoxic AcidIBA
01/2018 - 03/2017
2gamma-Aminobutyric Acid (GABA)IBA
10/2016 - 05/2010
2Proteins (Proteins, Gene)FDA Link
01/2007 - 01/2007
15-Hydroxytryptophan (5 Hydroxytryptophan)IBA
12/2020
13-methoxytyrosineIBA
12/2020
1VitaminsIBA
12/2020
1pipecolic acidIBA
12/2020
1Neurotransmitter Agents (Neurotransmitter)IBA
12/2020
1Oxidoreductases (Dehydrogenase)IBA
03/2020
1Pyridoxal Phosphate (Pyridoxal 5 Phosphate)IBA
03/2020
1Ketoglutaric Acids (Ketoglutaric Acid)IBA
02/2020
1Tyrosine (L-Tyrosine)FDA Link
02/2020
1PyridoxamineIBA
02/2020
11,5-anhydroglucitolIBA
02/2020
1Biomarkers (Surrogate Marker)IBA
01/2020
1TransferasesIBA
09/2019
1GuanineIBA
09/2019
1S-Adenosylmethionine (Ademetionine)IBA
09/2019
1HypoxanthineIBA
09/2019
1pyrimidineIBA
03/2019
1Leucovorin (Folinic Acid)FDA Link
03/2017
1lipoarabinomannan (LAM)IBA
01/2017
14-hydroxybutyric acidIBA
10/2016
1Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)IBA
10/2016

Therapy/Procedure

11Therapeutics
01/2022 - 08/2009
4Enzyme Replacement Therapy
01/2020 - 01/2018
4Electrodes (Electrode)
06/2017 - 02/2007
2Argon Plasma Coagulation
01/2007 - 01/2007
1Transcutaneous Electric Nerve Stimulation (TENS)
01/2021
1Hemispherectomy
01/2017