✦ LIBER ✦

Prenatal clinical expression of 3-methylglutaconic aciduria: Barth syndrome

✍ Scribed by E. H. Cardonick; K. Kuhlman; E. Ganz; L. T. Pagotto

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 189 KB
Volume: 17
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199710)17:10<983::aid-pd174>3.0.co;2-0

No coin nor oath required. For personal study only.

✦ Synopsis

We describe the first case of prenatally detected Barth Syndrome, an X-linked disorder involving multiple organ systems leading to dilated cardiomyopathy, skeletal myopathy, growth restriction, and recurrent bacterial infections due to neutropenia. 1997 by John Wiley & Sons, Ltd.

📜 SIMILAR VOLUMES

3-Methylglutaconic aciduria: A marker fo

3-Methylglutaconic aciduria: A marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a ‘new’ type (‘type 4’)

✍ D. Chitayat; J. Chemke; K. M. Gibson; O. A. Mamer; J. B. Kronick; J. J. McGill; 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 635 KB

Minimal clinical expression of the holop

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the sonic hedgehog gene and the HLXB9 gene at 7q36.3

✍ Denise Horn; Holger Tönnies; Heidemarie Neitzel; Dagmar Wahl; Georg Klaus Hinkel 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 238 KB 👁 2 views