Search Results - "Logush, A."
-
1
Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate
Published in JIMD Reports - Volume 11 (01-01-2013)“…Homozygous mutations in the gene CLN1 typically result in infantile-onset neuronal ceroid lipofuscinosis, a severe progressive neurological disorder with early…”
Get full text
Book Chapter Journal Article -
2
Probing the human genome in search for a new 3q syndrome
Published in Annales de génétique (1999)“…We report a case of partial trisomy 3q syndrome which could not be clinically identified as a distinct entity. The major clinical findings include: psychomotor…”
Get more information
Journal Article -
3
The erect penis--injury prone organ
Published in The journal of trauma (01-01-1988)“…Erection converts the safe, flaccid penis into a vulnerable organ. During erection, the usually thick tunica albuginea becomes very thin and easily…”
Get more information
Journal Article