A New Variant of Erythrocyte Pyruvate Kinase - PK ‘Maebashi’
| Autor: | Kazuo Kubota, Jun Tsuchiya, Masaki Moteki, Mitsuhiro Omine, Shiro Miwa, Tadashi Maekawa |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
Male
Pyruvate dehydrogenase lipoamide kinase isozyme 1 Erythrocytes Time Factors Pyruvate dehydrogenase kinase Adenine Nucleotides Chemistry Pyruvate Kinase Hematology Pyruvate dehydrogenase phosphatase New variant Jaundice medicine.disease Pedigree Biochemistry Male patient medicine Humans medicine.symptom Child Glycolysis Metabolism Inborn Errors Pyruvate kinase Pyruvate kinase deficiency |
| Zdroj: | Scandinavian Journal of Haematology. 14:242-248 |
| ISSN: | 0036-553X |
| DOI: | 10.1111/j.1600-0609.1975.tb02423.x |
| Popis: | A new case of erythrocyte pyruvate kinase deficiency was described. - A 9 year-old male patient was hospitalized because of anaemia, jaundice and splenomegaly. Diagnosis was made primarily on the basis of the erythrocyte enzyme studies. Because the pyruvate kinase of this patient demonstrated certain different characteristics from the other variants described previously, it was tentatively designated PK "Maebashi". |
| Databáze: | OpenAIRE |
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