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Makiko Yasuda Selected Research

Hereditary Coproporphyria (Coproporphyrinogen Oxidase Deficiency)

4/2024Case-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management.
11/2019Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
11/2019International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
11/2019Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.

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Makiko Yasuda Research Topics

Disease

18Acute Intermittent Porphyria (Porphyria, Acute)
04/2024 - 09/2007
9Hepatic Porphyrias (Hepatic Porphyria)
04/2024 - 01/2010
8Fabry Disease (Fabry's Disease)
11/2021 - 05/2002
5Porphyrias (Porphyria)
04/2024 - 11/2019
4Hereditary Coproporphyria (Coproporphyrinogen Oxidase Deficiency)
04/2024 - 11/2019
4Erythropoietic Protoporphyria
12/2023 - 04/2013
4Erythropoietic Porphyria (Congenital Erythropoietic Porphyria)
11/2019 - 04/2006
3Lysosomal Storage Diseases (Lysosomal Storage Disease)
01/2023 - 05/2002
3Porphyria Cutanea Tarda
11/2019 - 11/2019
3Variegate Porphyria (Protoporphyrinogen Oxidase Deficiency)
11/2019 - 11/2019
2Cerebrovascular Disorders (Cerebrovascular Occlusion)
11/2021 - 09/2020
1Pain (Aches)
04/2024
1Abdominal Pain (Pain, Abdominal)
11/2023
1Injection Site Reaction
11/2023
1Hepatoerythropoietic Porphyria
11/2019
1Hemochromatosis (Bronze Diabetes)
11/2019
1Infections
11/2019
1Ataxia (Dyssynergia)
01/2019
1Stroke (Strokes)
01/2018
1Hyperplasia
06/2015
1Liver Diseases (Liver Disease)
04/2013
1Reticulocytosis
04/2006
1Hemolytic Anemia
04/2006
1Anemia
04/2006

Drug/Important Bio-Agent (IBA)

16Heme (Haem)IBA
12/2023 - 04/2006
10Hydroxymethylbilane Synthase (Porphobilinogen Deaminase)IBA
01/2020 - 09/2007
9EnzymesIBA
11/2023 - 12/2003
7AcidsIBA
04/2024 - 08/2011
6alpha-Galactosidase (Beano)IBA
09/2020 - 05/2002
3Hydro-Lyases (Dehydratases)IBA
04/2024 - 11/2019
3Hemin (Panhematin)FDA Link
04/2024 - 08/2011
3PorphyrinsIBA
12/2023 - 04/2006
3Adenosine Diphosphate (ADP)IBA
11/2019 - 11/2019
3IronIBA
11/2019 - 06/2015
3GlycosphingolipidsIBA
03/2006 - 07/2003
2globotriaosylceramide (globotriosylceramide)IBA
11/2021 - 09/2020
2GalactosidasesIBA
11/2021 - 01/2018
2Protoporphyrinogen Oxidase (Protox)IBA
11/2019 - 11/2019
2Uroporphyrinogen Decarboxylase (Uroporphyrinogen III Decarboxylase)IBA
11/2019 - 11/2019
2Uroporphyrinogen III Synthetase (Uroporphyrinogen-III Synthase)IBA
11/2019 - 04/2006
2Ferrochelatase (Heme Synthetase)IBA
11/2019 - 04/2013
2Coproporphyrinogen Oxidase (Coproporphyrinogen III Oxidases)IBA
11/2019 - 11/2019
2PorphobilinogenIBA
01/2019 - 08/2011
1Cimetidine (Biomet)FDA LinkGeneric
12/2023
1Heme Oxygenase (Decyclizing) (Heme Oxygenase)IBA
12/2023
1IsoenzymesIBA
12/2023
1CreatinineIBA
11/2023
1HydrolasesIBA
09/2020
1Porphobilinogen Synthase (delta-Aminolevulinate Dehydratase)IBA
11/2019
1Aminolevulinic Acid (Levulan)FDA Link
11/2019
1Small Interfering RNA (siRNA)IBA
11/2015
1Lipid NanoparticlesIBA
11/2015
1Cell-Free Nucleic AcidsIBA
11/2015
1hydroxymethylbilaneIBA
06/2015
1Acute Hepatic PorphyriaIBA
05/2014
1protoporphyrin IXIBA
04/2013
15-Aminolevulinate SynthetaseIBA
04/2013

Therapy/Procedure

5Therapeutics
11/2023 - 08/2011
2Enzyme Replacement Therapy
01/2023 - 09/2020
1Bone Marrow Transplantation (Transplantation, Bone Marrow)
11/2019
1RNAi Therapeutics
11/2015
1Liver Transplantation
06/2015