𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria

✍ Scribed by K.M. Gibson; W.G. Sherwood; G.F. Hoffmann; D.A. Stumpf; I. Dianzanl; R.B.H. Schutgens; P.G. Barth; U. Weismann; C. Bachmann; P. Schrynemackers-Pitance; A. Verloes; K. Narisawa; M. Mino; N. Ohya; R.I. Kelley


Book ID
117163446
Publisher
Elsevier Science
Year
1991
Tongue
English
Weight
484 KB
Volume
118
Category
Article
ISSN
1097-6833

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Multiple syndromes of 3-methylglutaconic
✍ Gibson, K.Michael; Elpeleg, Orly N.; Jakobs, Cornelius; Costeff, Hanan; Kelley, πŸ“‚ Article πŸ“… 1993 πŸ› Elsevier Science 🌐 English βš– 413 KB
3-methylglutaconic aciduria in pregnancy
✍ R Walsh; H Conway; G Roche; E Naughten; PD Mayne πŸ“‚ Article πŸ“… 1997 πŸ› The Lancet 🌐 English βš– 36 KB
Prenatal clinical expression of 3-methyl
✍ E. H. Cardonick; K. Kuhlman; E. Ganz; L. T. Pagotto πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 189 KB

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.