A " NEW " DISORDER OF ISOLEUCINE CATABOLISM
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference7 articles.
1. Intermittent Branched-Chain Ketonuria
2. A new variant of maple syrup urine disease (branched chain ketoaciduria)
3. THIAMINE-RESPONSIVE MAPLE-SYRUP-URINE DISEASE
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1. A rare case of β-ketothiolase deficiency presenting as mimicker of diabetic ketoacidosis;Journal of Pediatric Endocrinology and Diabetes;2023-09-27
2. Identification of two novel ACAT1 variant associated with beta-ketothiolase deficiency in a 9-month-old boy;Journal of Pediatric Endocrinology and Metabolism;2022-07-18
3. Unexplained Tachypneoa and Severe Metabolic Acidosis in a Three-Month-Old Child: A Rare Presentation of Beta-Ketothiolose Deficiency;Cureus;2022-02-05
4. Disorders of Ketone Body Metabolism and Transport;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022
5. Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with severe β-ketothiolase deficiency: A case report;World Journal of Clinical Cases;2021-10-26
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