✦ LIBER ✦

Three cases of hereditary hemolytic anemia with pyrimidine 5′-nucleotidase deficiency in a Japanese family

✍ Scribed by Shiro Miwa; Koji Nakashima; Hisaichi Fujii; Minoru Matsumoto; Koichiro Nomura

Publisher: Springer
Year: 1977
Tongue: English
Weight: 174 KB
Volume: 37
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00393621

No coin nor oath required. For personal study only.

✦ Synopsis

Introduction.

Erythrocyte pyrimidine 5'-nucleotidase (5"ribonucleotide phosphohydrolase EC 3.1.3.5, P5N) deficiency associated with hereditary nonspherocytic hemolytic anemia was first described by Valentine et al. (1974). We now report three female cases with this deficiency found in a Japanese family.

📜 SIMILAR VOLUMES

Hereditary hemolytic anemia with erythro

Hereditary hemolytic anemia with erythrocyte pyrimidine 5′-nucleotidase deficiency in Spain

✍ J. L. Vives-Corrons; E. Montserrat-Costa; C. Rozman 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 401 KB

We report a hereditary hemolytic anemia associated with a severe erythrocyte pyrimidine 5'-nucleotidase deficiency in a Spanish family of five members in which the parents are first cousins. Both parents exhibited decreased nucleotidase activity without clinical or hematologic abnormalities. Two chi

Triosephosphate isomerase deficiency wit

Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease. Familial and biochemical studies of a case found in Spain

✍ Joan-Lluis Vives-Corrons; Henriette Rubinson-Skala; Marina Mateo; Jesús Estella; 📂 Article 📅 1978 🏛 Springer 🌐 English ⚖ 506 KB

A 16-month-old girl of Spanish origin with chronic hemolytic anemia and severe neuromuscular disease was found to have markedly reduced triosephosphate isomerase (TPI) activity in her erythrocytes, leukocytes, and plateletes. Both parents and some other family members had moderately reduced erythroc