✦ LIBER ✦

Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation

✍ Scribed by Markus-Johann Dechant; Satu Wedenoja; Pia Höglund; Susanne Prange-Schmidt; Klaus-Peter Zimmer; Matthias Heckmann

Book ID: 114817298
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 144 KB
Volume: 101
Category: Article
ISSN: 0803-5253
DOI: 10.1111/j.1651-2227.2012.02610.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Long-term follow up of a case of severe

Long-term follow up of a case of severe congenital chloride diarrhoea

✍ D. Vermeylen; S. Godart; M. Moretto; F. Janssen; J. M. Bouton 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 641 KB

A patient with congenital chloride diarrhoea (CCD) is reported. The diagnosis on the 5th day of life was based on the watery stools with characteristic ionic composition. The neonate presented with abdominal distension necessitating laparotomy on day 1, followed by transverse colostomy on day 3, owi

A Japanese child with geleophysic dyspla

A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1

✍ Tomoko Lee; Yasuhiro Takeshima; Yo Okizuka; Kiyoshi Hamahira; Noriko Kusunoki; H 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 551 KB

Long-term follow-up of patients with con

Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations

✍ I. Wargon; P. Richard; T. Kuntzer; D. Sternberg; S. Nafissi; K. Gaudon; A. Lebai 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 481 KB

Thirty-year follow-up of a patient with

Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations

✍ Kholoud Al-Khayer; Stephanie Hagstrom; Gayle Pauer; Hernando Zegarra; Jonathan S 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 221 KB

Novel mutations of TGM1 in a child with

Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma

✍ M. Akiyama; Y. Takizawa; T. Kokaji; H. Shimizu 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 506 KB

Congenital goitre with hypothyroidism ca

Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene

✍ Héctor M. Targovnik; Pierre F. Souchon; Gloria A. Machiavelli; Anne S. Salmon-Mu 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 135 KB