✦ LIBER ✦

A Low Km Phosphoenolpyruvate Mutant in the Amish with Red Cell Pyruvate Kinase Deficiency

✍ Scribed by Frank A. Oski; Herbert Bowman

Book ID: 117946729
Publisher: John Wiley and Sons
Year: 1969
Tongue: English
Weight: 633 KB
Volume: 17
Category: Article
ISSN: 0007-1048
DOI: 10.1111/j.1365-2141.1969.tb01375.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A red cell pyruvate kinase mutant with n

A red cell pyruvate kinase mutant with normal L-type PK in the liver

✍ Jeanne Etiemble; Christiane Picat; Pierre Boivin 📂 Article 📅 1982 🏛 Springer 🌐 English ⚖ 345 KB

Investigations of the Kinetics of Red Ce

Investigations of the Kinetics of Red Cell Pyruvate Kinase in Normal Individuals and in a Patient with Pyruvate Kinase Deficiency

✍ WIESMANN, U.; TÖNZ, O. 📂 Article 📅 1966 🏛 Nature Publishing Group 🌐 English ⚖ 474 KB

Successful bone marrow transplantation i

Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency

✍ Tanphaichitr, V S; Suvatte, V; Issaragrisil, S; Mahasandana, C; Veerakul, G; Cho 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 33 KB

Hereditary Pyruvate Kinase Deficiency: R

Hereditary Pyruvate Kinase Deficiency: Role of the Abnormal Enzyme in Red Cell Pathophysiology

✍ A. Zanella; P. Rebulla; C. Vullo; C. Izzo; F. Tedesco; G. Sirchia 📂 Article 📅 1978 🏛 John Wiley and Sons 🌐 English ⚖ 835 KB

Congenital insensitivity to pain with an

Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency

✍ Yasuhiro Indo; Sek Mardy; Yuichi Miura; Allie Moosa; Essam A.R. Ismail; Ennio To 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 477 KB

Congenital insensitivity to pain with anhidrosis is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. The human TRKA gene (NTRK1), located on