✦ LIBER ✦

Spondylocarpotarsal synostosis: Long-term follow-up of a case due to FLNB mutations

✍ Scribed by Nicola Brunetti-Pierri; Valentina Esposito; Daniele De Brasi; Dario Maria Mattiacci; Deborah Krakow; Brendan Lee; Mariacarolina Salerno

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 81 KB
Volume: 146A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32303

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Long-term follow up of a new case of haw

Long-term follow up of a new case of hawkinsinuria

✍ W. Lehnert; W. Stögmann; U. Engelke; R. A. Wevers; G. B. van den Berg 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 128 KB

Long-term follow-up of a patient with pr

Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novelTRPM6mutation

✍ Dolors Esteban-Oliva; Guillem Pintos-Morell; Martin Konrad 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 88 KB

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

Identification of two novel mutations an

Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases

✍ Laurence Chardon; Agnès Sassolas; Bernard Dingeon; Laurence Michel-Calemard; Mic 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 202 KB

Long-term follow-up of a new case of liv

Long-term follow-up of a new case of liver glycogen synthase deficiency

✍ Laberge, Anne Marie ;Mitchell, Grant A. ;van de Werve, Gerald ;Lambert, Marie 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 58 KB

Long-term follow up of patients on U-500

Long-term follow up of patients on U-500 insulin: a case series

✍ Nayyar, V ;Jarvis, J ;Lawrence, I ;Kong, M-F ;Gregory, R ;Hiles, S ;Jackson, S ; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 483 KB

## Abstract The aim of this paper is to describe the long‐term effect of U‐500 insulin use on biomedical outcomes in a cohort of patients with diabetes mellitus. We carried out a case record review of 81 patients from a multicultural population who had received U‐500 insulin. We recorded data befo