✦ LIBER ✦

CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in theMTRRgene

✍ Scribed by M. A. Vilaseca; L. Vilarinho; P. Zavadakova; E. Vela; E. Cleto; M. Pineda; E. Coimbra; T. Suormala; B. Fowler; V. Kozich

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical presentation of mild cystic fib

✍ Nikolic, Aleksandra; Radlovic, Nedeljko; Dinic, Jelena; Milosevic, Katarina; Rad 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 311 KB

Congenital disorder of glycosylation typ

✍ D. Coman; S. Klingberg; D. Morris; J. McGill; H. Mercer 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 76 KB

Association of Adult-Onset Glycogenosis

✍ Françoise Chapon; Pascale Richard; Y. Reznik; Stéphane Allouche; François Leroy; 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 80 KB

Clinical and genetic studies in Spanish

✍ S Bernal; C Medà; T Solans; C Ayuso; B Garcia-Sandoval; D Valverde; E Del Rio; M 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 363 KB

Biochemical and molecular diagnosis of t

✍ Mak, Chloe Miu; Lam, Ching-wan; Chim, Stella; Siu, Tak-shing; Ng, King-fai; Tam, 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 694 KB

Significance of two point mutations pres

✍ Isabelle Redonnet-Vernhet; Don J. Mahuran; Robert Salvayre; Frédéric Dubas; Thie 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 714 KB