✦ LIBER ✦

Hepatic lipase deficiency in a Finnish family; novel and known genetic variants in the HL gene

✍ Scribed by P. Knudsen; H. Tenkanen; M. Uusi-Oukari; L. Groop; C. Ehnholm; M.-R. Taskinen

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Heterozygous hepatic lipase deficiency,

✍ Petteri Knudsen; Marjatta Antikainen; Mikko Uusi-Oukari; Sonja Ehnholm; Sanni La 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 471 KB

Molecular and metabolic studies on a pat

✍ Y. Ikeda; A. Takagi; A. Mori; T. Fukuoka; Z. Tsutsumi; M. Tsushima; A. Yamamoto 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 299 KB

Compound heterozygosity for a known and

✍ S.M. Bijvoet; H. Wiebusch; Y. Ma; P.W.A. Reymer; T. Bruin; H.D. Bakker; H. Funke 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 657 KB

NK and B cell deficiency in a MPS type I

✍ Torres, Leuridan Cavalcante; de Queiroz Soares, Diogo Cordeiro; Kulikowski, Lesl 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 902 KB

A novel compound heterozygous mutation i

✍ S. WU; Z. WANG; N. DONG; X. BAI; C. RUAN 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 164 KB

Aromatase deficiency owing to a function

✍ Annik Hauri-Hohl; Monika Meyer-Böni; Mariarosaria Lang-Muritano; Mathias Hauri-H 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 203 KB