✦ LIBER ✦

Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly

✍ Scribed by Marie-Cécile Nassogne; Brigitte Henrot; Geneviève Aubert; Christine Bonnier; Sandrine Marie; Christine Saint-Martin; Georges Van den Berghe; Guillaume Sébire; Marie-Françoise Vincent

Book ID: 117545353
Publisher: Elsevier Science
Year: 2000
Tongue: English
Weight: 333 KB
Volume: 22
Category: Article
ISSN: 0387-7604
DOI: 10.1016/s0387-7604(00)00154-6

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

280 Adenylosuccinase deficiency: An unus

280 Adenylosuccinase deficiency: An unusual cause of early-onset severe epilepsy associated with acquired microcephaly

✍ M.C. Nassogne; B. Henrot; C. Bonnier; S. Marie; C. Saint-Martin; G. Van Den Berg 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 263 KB

Early-Onset Epilepsy and Postnatal Letha

Early-Onset Epilepsy and Postnatal Lethality Associated with an Editing-Deficient GluR-B Allele in Mice

✍ Brusa, R.; Zimmermann, F.; Koh, D.-S.; Feldmeyer, D.; Gass, P.; Seeburg, P. H.; 📂 Article 📅 1995 🏛 American Association for the Advancement of Scienc 🌐 English ⚖ 570 KB

Deep vein thrombosis associated with pro

Deep vein thrombosis associated with protein C and protein S deficiency: An unusual cause of acute abdomen

✍ Selim Doganay; Fitnet Sonmezgoz; Yasar Sen; Ercan Kocakoc 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 107 KB 👁 1 views

Deep venous thrombosis is an extremely rare cause of acute abdomen and is often difficult to diagnose. Protein C and protein S deficiencies are rare genetic abnormalities that predispose the patient to thrombophilia and lead to thrombosis. We report the case of a previously healthy 7-year-old boy wi

An unusual cause of diarrhea: diffuse in

An unusual cause of diarrhea: diffuse intestinal nodular lymphoid hyperplasia in association with selective immunoglobulin A deficiency (with video)

✍ Aymer Postgate; Edward Despott; Ian Talbot; Rosemary Phillips; Anthony Aylwin; C 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 396 KB

Galloway–Mowat syndrome: An early-onset

Galloway–Mowat syndrome: An early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature

✍ Marianna Pezzella; Nune S. Yeghiazaryan; Pierangelo Veggiotti; Alberto Bettinell 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 298 KB

Homozygous deletion of an 80 kb reg

Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy

✍ Virginie Vauthier; Sylvie Jaillard; Hubert Journel; Christèle Dubourg; Ralf Jock 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 613 KB