| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient
|
Barakizou, Hager
|
|
2016
|
17 |
3 |
p. 251-254
4 p.
|
article
|
| 2 |
Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex
|
Shaukat, Rimshah
|
|
2016
|
17 |
3 |
p. 243-246
4 p.
|
article
|
| 3 |
Aminoglycoside induced ototoxicity associated with mitochondrial DNA mutations
|
Foster II, Joseph
|
|
2016
|
17 |
3 |
p. 287-293
7 p.
|
article
|
| 4 |
Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome
|
Shawky, Rabah M.
|
|
2016
|
17 |
3 |
p. 255-258
4 p.
|
article
|
| 5 |
BH4 deficiency with unusual presentations: Challenges and lessons
|
Elsayed, Solaf M.
|
|
2016
|
17 |
3 |
p. 241-242
2 p.
|
article
|
| 6 |
Challenges identified in the management of patients with inherited metabolic disorders – A five year experience from Pakistan
|
Afroze, Bushra
|
|
2016
|
17 |
3 |
p. 259-264
6 p.
|
article
|
| 7 |
Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders
|
Abd-Elkhalek, Heba S.
|
|
2016
|
17 |
3 |
p. 247-250
4 p.
|
article
|
| 8 |
Editorial Board
|
|
|
2016
|
17 |
3 |
p. iii-
1 p.
|
article
|
| 9 |
Phenotypic and molecular genetic analysis of Pyruvate Kinase deficiency in a Tunisian family
|
Mouna, Jaouani
|
|
2016
|
17 |
3 |
p. 265-270
6 p.
|
article
|
| 10 |
Polymorphism in leptin receptor gene was associated with obesity in Yogyakarta, Indonesia
|
Hastuti, Pramudji
|
|
2016
|
17 |
3 |
p. 271-276
6 p.
|
article
|
| 11 |
Prevalence of glucose-6-phosphate dehydrogenase deficiency in India: An updated meta-analysis
|
Kumar, Pradeep
|
|
2016
|
17 |
3 |
p. 295-302
8 p.
|
article
|
| 12 |
Treatment options for patients with Gaucher disease
|
Shawky, Rabah M.
|
|
2016
|
17 |
3 |
p. 281-285
5 p.
|
article
|
| 13 |
Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations
|
Elsayed, Solaf
|
|
2016
|
17 |
3 |
p. 277-280
4 p.
|
article
|
Journal description