We report a 2-year-old boy with Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GK) and adrenal hypoplasia congenita (AHC). At three weeks of age, the patient was hospitalized for the first time with symptoms of hypotone dehydration because of AHC. At present, he shows severe muscular
β¦ LIBER β¦
Yeast Artificial Chromosome Cloning in the Glycerol Kinase and Adrenal Hypoplasia Congenita Region of Xp21
β Scribed by K.C. Worley; K.A. Ellison; Y-H. Zhang; D-F. Wang; J. Mason; E.J. Roth; V. Adams; D.D. Fogt; X.M. Zhu; J.A. Towbin; A.C. Chinault; H. Zoghbi; E.R.B. McCabe
- Book ID
- 115611574
- Publisher
- Elsevier Science
- Year
- 1993
- Tongue
- English
- Weight
- 636 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0888-7543
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Characterisation of a Xp21 microdeletion
β
M. Stuhrmann; H. Heilbronner; A. Reis; R. -D. Wegner; P. Fischer; J. Schmidtke
π
Article
π
1991
π
Springer
π
English
β 249 KB
Fine mapping of glycerol kinase deficien
β
Davies, K. E. ;Patterson, M. N. ;Kenwrick, S. J. ;Bell, M. V. ;Sloan, H. R. ;Wes
π
Article
π
1988
π
John Wiley and Sons
π
English
β 457 KB
π 1 views
We have studied patients with Duchenne muscular dystrophy (DMD), DMD together with glycerol kinase (GK) deficiency, or DMD together with both GK deficiency and congenital adrenal hypoplasia (AHC). Analysis of deletions in these patients allows the mapping of these mutations in Xp21. The following or
Anesthesia for a child suffering from a
β
Luc J. Van Obbergh; Joelle Corteel; Jean Papadopoulos; Sophie Aunac
π
Article
π
2011
π
John Wiley and Sons
π
English
β 137 KB
Molecular Xp deletion in a male: suggest
β
P. Goonewardena; N. Dahl; M. RitzΓ©n; G. J. B. van Ommen; U. Pettersson
π
Article
π
2008
π
John Wiley and Sons
π
English
β 520 KB
DELETION ON THE X CHROMOSOME DETECTED BY
β
Dunger, D.B.; Pembrey, M.; Pearson, P.; Whitfield, A.; Davies, K.E.; Lake, B.; W
π
Article
π
1986
π
The Lancet
π
English
β 422 KB