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Publications by Shinsuke Maruyama
Three Japanese Patients With Beta-Ketothiolase Deficiency Who Share a Mutation, C.431A>C (H144P) in ACAT1
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Related publications
Beta-Ketothiolase Deficiency
Beta-Ketothiolase Deficiency as a Treatable Neurometabolic Disorder: A Case Report Due to a Novel Compound Heterozygote Mutations in ACAT1 Gene
Biomedical Journal of Scientific & Technical Research
A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: C.734A>C
Balkan Medical Journal
Medicine
Donor Splice Site Mutation in the Apolipoprotein (Apo) C-Ii Gene (Apo C-IIHamburg) of a Patient With Apo C-Ii Deficiency.
Journal of Clinical Investigation
Medicine
Intermediate McAd Deficiency Associated With a Novel Mutation of theACADMGene: C.1052C>T
Case Reports in Genetics
Is Intravenous Vitamin C Contraindicated in Patients With G6PD Deficiency?
Critical Care
Critical Care
Intensive Care Medicine
No Effect of the Prothrombin G20210A Mutation on Protein C Activation in a Large Kindred With Type I Protein C Deficiency
Blood Coagulation and Fibrinolysis
Medicine
Hematology
Beta-Myosin Heavy Chain (Β-Mhc) and Myosin Binding Protein C (MyBP-C) Genes Mutation in Bangladeshi Hypertrophic Cardiomyopathy Patients: A Genotype-Phenotype Correlation
Canadian Journal of Biotechnology
Use of Human Protein C Concentrates in the Treatment of Patients With Severe Congenital Protein C Deficiency
Biologics: Targets and Therapy
Oncology
Immunology
Gastroenterology
Pharmacology
Rheumatology
Allergy
