Hawkinsinuria in two families
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference10 articles.
1. (1984): Screening for metabolic diseases. In (ed): “Abnormalities in Amino Acid Metabolism in Clinical Medicine.” E. Norwalk, CN: Appleton-Century-Crofts, pp 401-418.
2. Hawkinsinuria — identification of quinolacetic acid and pyroglutamic acid during an acidotic phase
3. A NEW FORM OF PROLONGED TRANSIENT TYROSINEMIA PRESENTING WITH SEVERE METABOLIC ACIDOSIS
4. A new sulfur amino acid, named hawkinsin, identified in a baby with transient tyrosinemia and her mother
5. Excretion of cis- and trans-4-hydroxycyclohexylacetic acid in addition to hawkinsin in a family with a postulated defect of 4-hydroxyphenylpyruvate dioxygenase
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3. Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1;Pediatric Drugs;2019-10-31
4. Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review;Journal of International Medical Research;2019-07-25
5. Disorders of Amino Acid Metabolism;2017
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