✦ LIBER ✦

Pyruvate Kinase (PK) Deficiency in Newborns: The Pitfalls of Diagnosis

✍ Scribed by Serge Pissard; Mariane de Montalembert; Dora Bachir; Isabelle Max-Audit; Michel Goossens; Henri Wajcman; Brigitte Bader-Meunier

Book ID: 113743929
Publisher: Elsevier Science
Year: 2007
Tongue: English
Weight: 83 KB
Volume: 150
Category: Article
ISSN: 1097-6833
DOI: 10.1016/j.jpeds.2007.01.039

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Two homozygous cases of erythrocyte pyru

Two homozygous cases of erythrocyte pyruvate kinase (PK) deficiency in Japan: PK sendai and PK shinshu

✍ Dr. Kenzaburo Tani; Hisaichi Fujii; Keisuke Takahashi; Hiromi Ogura; Hitoshi Kan 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 402 KB

Change of pyruvate kinase (PK) isozymes

Change of pyruvate kinase (PK) isozymes in classical type pk deficiency and other PK deficiency cases during red cell maturation

✍ Dr. S. Takegawa; S. Miwa 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 382 KB

Pyruvate kinase deficiency associated wi

Pyruvate kinase deficiency associated with severe liver dysfunction in the newborn

✍ Martine F. Raphaël; Richard Van Wijk; Joachim J. Schweizer; Netteke A.Y. Schoute 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 210 KB 👁 1 views

Red cell pyruvate kinase deficiency: 17

Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene

✍ Elisa Fermo; Paola Bianchi; Laurent R. Chiarelli; Frederic Cotton; Cristina Verc 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 136 KB

Fifteen novel mutations in PKLR associat

Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: Structural implications of amino acid substitutions in PK

✍ Richard van Wijk; Eric G. Huizinga; Annet C.W. van Wesel; Brigitte A. van Oirsch 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 284 KB

Pyruvate kinase (PK) deficiency is a rare disease but an important cause of hereditary nonspherocytic hemolytic anemia. The disease is caused by mutations in the PKLR gene and shows a marked variability in clinical expression. We report on the molecular characterization of 38 PK-deficient patients f

On the molecular basis of pyruvate kinas

On the molecular basis of pyruvate kinase deficiency II. Role of thiol groups in pyruvate kinase from pyruvate kinase-deficient patients

✍ Th.J.C. Van Berkel; G.E.J. Staal; J.F. Koster; J.G. Nyessen; L. van Milligen-Boe 📂 Article 📅 1974 🏛 Elsevier Science ⚖ 396 KB