𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Pei De-kai—A prominent pathophysiologist—A prominent pathophysiologist

Book ID
105725626
Publisher
Chinese Association of Traditional and Western Medicine
Year
2001
Tongue
English
Weight
940 KB
Volume
7
Category
Article
ISSN
1672-0415

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prenatal diagnosis of de novo interstiti
Prenatal diagnosis of de novo interstitial 16q deletion in a fetus associated with sonographic findings of prominent coronal sutures, a prominent frontal bone, and shortening of the long bones
✍ Chih-Ping Chen; Schu-Rern Chern; Chen-Chi Lee; Li-Feng Chen; Chun-Yu Chuang 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 144 KB 👁 3 views

De novo interstitial 16q deletion diagnosed in utero has not previously been reported. We present a case of fetal de novo interstitial 16q deletion associated with the sonographic findings of prominent coronal sutures, a prominent frontal bone, and shortening of the long bones. Genetic amniocentesis

Atypical GLUT1 deficiency with prominent
Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet
✍ Jennifer R.L. Friedman; Elizabeth A. Thiele; Dong Wang; Kara B. Levine; Erin K. 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 92 KB

## Abstract Glucose transport protein deficiency due to mutation in the __GLUT1__ gene is characterized by infantile onset and chronic seizure disorder, microcephaly, global developmental delays, and hypoglycorrhachia. We describe a 10‐year‐old normocephalic male with prominent ataxia, dystonia, ch