Treatment options for patients with Gaucher disease.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2016, v. 17, n. 3, p. 281, doi. 10.1016/j.ejmhg.2016.02.001
- By:
- Publication type:
- Article
Works matching IS 11108630 AND DT 2016 AND VI 17 AND IP 3
Results: 12
1
2
Aminoglycoside induced ototoxicity associated with mitochondrial DNA mutations.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2016, v. 17, n. 3, p. 287, doi. 10.1016/j.ejmhg.2016.06.001
- By:
- Publication type:
- Article
3
Prevalence of glucose-6-phosphate dehydrogenase deficiency in India: An updated meta-analysis.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2016, v. 17, n. 3, p. 295, doi. 10.1016/j.ejmhg.2016.01.004
- By:
- Publication type:
- Article
4
Polymorphism in leptin receptor gene was associated with obesity in Yogyakarta, Indonesia.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2016, v. 17, n. 3, p. 271, doi. 10.1016/j.ejmhg.2015.12.011
- By:
- Publication type:
- Article
5
Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2016, v. 17, n. 3, p. 277, doi. 10.1016/j.ejmhg.2015.08.005
- By:
- Publication type:
- Article
6
Phenotypic and molecular genetic analysis of Pyruvate Kinase deficiency in a Tunisian family.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2016, v. 17, n. 3, p. 265, doi. 10.1016/j.ejmhg.2015.09.001
- By:
- Publication type:
- Article
7
Challenges identified in the management of patients with inherited metabolic disorders - A five year experience from Pakistan.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2016, v. 17, n. 3, p. 259, doi. 10.1016/j.ejmhg.2016.03.002
- By:
- Publication type:
- Article
8
Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2016, v. 17, n. 3, p. 255, doi. 10.1016/j.ejmhg.2015.08.009
- By:
- Publication type:
- Article
9
Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2016, v. 17, n. 3, p. 251, doi. 10.1016/j.ejmhg.2015.12.003
- By:
- Publication type:
- Article
10
Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2016, v. 17, n. 3, p. 247, doi. 10.1016/j.ejmhg.2015.12.005
- By:
- Publication type:
- Article
11
Alpha-fucosidosis - Two brothers presenting with dysostosis multiplex.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2016, v. 17, n. 3, p. 243, doi. 10.1016/j.ejmhg.2015.11.004
- By:
- Publication type:
- Article
12
BH4 deficiency with unusual presentations: Challenges and lessons.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2016, v. 17, n. 3, p. 241, doi. 10.1016/j.ejmhg.2015.10.003
- By:
- Publication type:
- Article