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Publications by Ali Reza Tavasoli
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
Related publications
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
Beta-Ketothiolase Deficiency
Identification of a Compound Heterozygote in LYST Gene: A Case Report on Chediak-Higashi Syndrome
BMC Medical Genetics
Genetics
Isolated Growth Hormone Deficiency Type 2 Due to a Novel GH1 Mutation: A Case Report
JCRPE Journal of Clinical Research in Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Diagnosis: Congenital Dyserythropoietic Anemia Type 2 Due to Compound Heterozygote Mutation in SEC23B Gene
Turkish Journal of Haematology
Hematology
Novel Compound Heterozygous COG5 Mutations in a Chinese Male Patient With Severe Clinical Symptoms and Type�IIi Congenital Disorder of Glycosylation: A Case Report
Experimental and Therapeutic Medicine
Medicine
Cancer Research
Immunology
Microbiology
Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient With Compound Heterozygote Mutations of theMEFVGene
Gut and Liver
Hepatology
Gastroenterology
Congenital Dyserythropoietic Anemia Type 1: A Case With Novel Compound Heterozygous Mutations in the C15orf41 Gene
American Journal of Hematology
Hematology
Transient Psychosis Due to Painless Thyroiditis in a Patient With Anxiety Disorder: A Case Report
Journal of Medical Case Reports
Medicine
