Amanote Research
Register
Sign In
Beta-Ketothiolase Deficiency
doi 10.32388/cgu85r
Full Text
Open PDF
Abstract
Available in
full text
Date
February 10, 2020
Authors
Unknown
Publisher
Qeios
Related search
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 as a Treatable Neurometabolic Disorder: A Case Report Due to a Novel Compound Heterozygote Mutations in ACAT1 Gene
Biomedical Journal of Scientific & Technical Research
Beta-Ureidopropionase Deficiency
Dopamine Beta-Hydroxylase Deficiency
11-Beta-Hydroxylase Deficiency
Congenital Adrenal Hyperplasia Due to 11-Beta-Hydroxylase Deficiency
Presentation of Mucopolysaccharidosis VII (Beta-Glucuronidase Deficiency) in Infancy.
Journal of Medical Genetics
Genetics
Frequency of Coincident Iron Deficiency and Beta-Thalassaemia Trait.
Journal of Clinical Pathology
Medicine
Forensic Medicine
Pathology
Mild Adrenal 3.beta.-Hydroxysteroid Dehydrogenase Deficiency With Hyperaldosteronism.
Endocrinologia Japonica
