Yoshiko Murakami Selected Research

Glycosylphosphatidylinositol deficiency

3/2024	The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
6/2021	High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency.
12/2016	A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.
2/2012	Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.

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Yoshiko Murakami Research Topics

Disease

16	Intellectual Disability (Idiocy) 10/2021 - 10/2010
14	Seizures (Absence Seizure) 03/2024 - 07/2012
9	Paroxysmal Hemoglobinuria (Paroxysmal Nocturnal Hemoglobinuria) 01/2021 - 12/2002
9	Epilepsy (Aura) 01/2020 - 04/2007
6	Neoplasms (Cancer) 07/2022 - 12/2006
5	Muscle Hypotonia (Hypotonia) 10/2021 - 04/2013
5	Hemolysis 12/2019 - 12/2002
4	Glycosylphosphatidylinositol deficiency 03/2024 - 02/2012
4	Congenital Disorders of Glycosylation 01/2022 - 04/2013
4	Hyperphosphatasia with Mental Retardation 03/2014 - 07/2012
3	Neurologic Manifestations (Neurological Manifestations) 01/2023 - 04/2020
3	Atrophy 10/2021 - 11/2017
2	Squamous Cell Carcinoma of Head and Neck 04/2023 - 01/2023
2	Mitochondrial Diseases (Mitochondrial Disease) 12/2022 - 10/2021
2	Adenocarcinoma of Lung 01/2022 - 10/2008
2	Brain Diseases (Brain Disorder) 10/2018 - 05/2014
2	Non-Small-Cell Lung Carcinoma (Carcinoma, Non-Small Cell Lung) 10/2018 - 01/2012
2	Small Cell Lung Carcinoma (Small Cell Lung Cancer) 10/2018 - 10/2008
1	NGLY1 deficiency 12/2023
1	Neoplasm Micrometastasis 01/2023
1	Neoplasm Metastasis (Metastasis) 01/2023
1	Neurodevelopmental Disorders 08/2022
1	Cysts 07/2022
1	Glioma (Gliomas) 07/2022
1	Hemorrhage 07/2022
1	ATR-X syndrome 07/2022
1	Prion Diseases (Transmissible Spongiform Encephalopathies) 01/2022
1	Lymphatic Metastasis 10/2021
1	Head and Neck Neoplasms (Head and Neck Cancer) 10/2020
1	Mouth Neoplasms (Oral Cancer) 10/2020
1	Lung Neoplasms (Lung Cancer) 11/2018
1	Ataxia (Dyssynergia) 10/2018
1	Aseptic Meningitis 09/2018
1	Meningitis 09/2018
1	Microcephaly 01/2018
1	Apnea 01/2018
1	Metabolic Bone Diseases (Osteopenia) 11/2017
1	Fetofetal Transfusion (Twin Transfusion Syndrome) 01/2017
1	Hirschsprung Disease (Hirschsprung's Disease) 01/2017
1	Nausea 01/2017
1	Respiratory Insufficiency (Respiratory Failure) 01/2017
1	Vomiting 01/2017
1	Infections 01/2016
1	Infantile Spasms (West Syndrome) 03/2014
1	Drug Resistant Epilepsy 02/2014
1	Absence Epilepsy (Childhood Absence Epilepsy) 04/2013
1	Tuberculosis (Tuberculoses) 02/2013

Drug/Important Bio-Agent (IBA)

25	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 03/2024 - 12/2002
14	Proteins (Proteins, Gene)FDA Link 01/2023 - 03/2005
8	Alkaline PhosphataseIBA 01/2018 - 10/2010
6	Immunoglobulin D (IgD)IBA 03/2024 - 03/2014
5	Complement System Proteins (Complement)IBA 12/2019 - 12/2002
5	GPI-Linked ProteinsIBA 12/2019 - 11/2005
4	COOH-terminal signal transamidaseIBA 01/2020 - 11/2017
3	Pyridoxine (Pyridoxin)FDA LinkGeneric 06/2021 - 07/2015
2	VitaminsIBA 12/2022 - 10/2013
2	eculizumab FDA Link 12/2019 - 09/2018
2	Phosphotransferases (Kinase)IBA 11/2018 - 01/2012
2	Vitamin B 6IBA 02/2018 - 07/2015
1	Glycoproteins (Glycoprotein)IBA 12/2023
1	perampanelIBA 12/2023
1	PyridoxalIBA 12/2022
1	Flavin-Adenine Dinucleotide (FAD)IBA 12/2022
1	Flavin Mononucleotide (FMN)IBA 12/2022
1	Riboflavin (Vitamin B2)FDA LinkGeneric 12/2022
1	Capsules (Microcapsules)IBA 07/2022
1	raf KinasesIBA 07/2022
1	Apoptosis Regulatory ProteinsIBA 01/2022
1	AcetylgalactosamineIBA 01/2022
1	PrionsIBA 01/2022
1	Thyroid Nuclear Factor 1IBA 01/2022
1	B7-H1 AntigenIBA 01/2022
1	Carcinoembryonic AntigenIBA 10/2021
1	Indocyanine Green (Cardio-Green)FDA LinkGeneric 10/2020
1	InflammasomesIBA 12/2019
1	Anaplastic Lymphoma KinaseIBA 10/2018
1	pro-gastrin-releasing peptide (31-98)IBA 10/2018
1	Clonazepam (Rivotril)FDA LinkGeneric 01/2018
1	Dichlorodiphenyldichloroethane (DDD)IBA 01/2018
1	Acetazolamide (Diamox)FDA LinkGeneric 01/2018
1	Phenobarbital (Luminal)FDA Link 01/2018
1	potassium bromideIBA 01/2018
1	Initiator Codon (Start Codon)IBA 01/2018
1	Anesthetics (Anesthetic Agents)IBA 01/2017
1	Fentanyl (Sublimaze)FDA LinkGeneric 01/2017
1	Dexmedetomidine FDA Link 01/2017
1	Fatty Acids (Saturated Fatty Acids)IBA 02/2014
1	Membrane Proteins (Integral Membrane Proteins)IBA 01/2014
1	lipoarabinomannan (LAM)IBA 02/2013
1	lipomannanIBA 02/2013
1	Progesterone Receptors (Progesterone Receptor)IBA 05/2012
1	Mucin-1 (CA 15-3 Antigen)IBA 05/2012

Therapy/Procedure

2	Neck Dissection (Radical Neck Dissection) 04/2023 - 01/2023
1	Drug Therapy (Chemotherapy) 07/2022
1	Radiotherapy 07/2022
1	Molecular Targeted Therapy 07/2022
1	Operative Surgical Procedures 10/2020
1	Lasers (Laser) 01/2017
1	Light Coagulation 01/2017
1	Laser Coagulation 01/2017