✦ LIBER ✦

A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans

✍ Scribed by Ronen Spiegel; Gideon Bach; Vivi Sury; Getu Mengistu; Bela Meidan; Stavit Shalev; Yona Shneor; Hanna Mandel; Marsha Zeigler

Book ID: 116987583
Publisher: Elsevier Science
Year: 2005
Tongue: English
Weight: 369 KB
Volume: 84
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2004.10.004

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Cerebral Infarction as the First Present

Cerebral Infarction as the First Presentation of Tuberculosis in an Infant: A Case Report

✍ Farid Radmanesh; Farideh Nejat; Mostafa El Khashab 📂 Article 📅 2010 🏛 Scientific Communications 🌐 English ⚖ 400 KB

An Ala/Thr variation in the coding regio

An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a SstII polymorphism

✍ Milagros Balbín; Anders Grubb; Magnus Abrahamson 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 157 KB

A DNA variation in the coding region of the human cystatin C gene has been detected by direct sequencing. The polymorphism, a G/A transition, leads to an Ala/Thr variation in the penultimate amino acid of the signal peptide. The base substitution results in the loss of a SstII restriction site, thus

Rupture of the middle cerebral artery an

Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation

✍ Peric, S.; Fumic, K.; Bilic, K.; Reuser, A.; Rakocevic Stojanovic, V. 📂 Article 📅 2013 🏛 Royal Association of Belgian Medical Scientific So 🌐 English ⚖ 133 KB

First pilot newborn screening for four l

First pilot newborn screening for four lysosomal storage diseases in an Italian region: Identification and analysis of a putative causative mutation in the GBA gene

✍ Silvia Paciotti; Emanuele Persichetti; Severo Pagliardini; Marta Deganuto; Camil 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 379 KB

Griscelli syndrome: report of the first

Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT

✍ Schuster, F; Stachel, D K; Schmid, I; Baumeister, F A M; Graubner, U B; Weiß, M; 📂 Article 📅 2001 🏛 Nature Publishing Group 🌐 English ⚖ 137 KB