|
🐜
|
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
31 auth.
B. Burton,
M. Balwani,
F. Feillet,
I. Barić,
T. Burrow,
C. Camarena Grande,
M. Çoker,
A. Consuelo-Sánchez,
P. Deegan,
M. Di Rocco,
G. Enns,
R. Erbe,
F. Ezgu,
C. Ficicioglu,
K. Furuya,
...
J. Kane,
Christina M Laukaitis,
E. Mengel,
E. Neilan,
S. Nightingale,
H. Peters,
M. Scarpa,
K. Schwab,,
V. Smolka,
V. Valayannopoulos,
M. Wood,
Z. Goodman,
Yijun Yang,
S. Eckert,
Sandra Rojas-Caro,
A. Quinn
|
7 |
2015 |
7
🐜
|
|
🐜
|
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative
25 auth.
D. Hughes,
P. Aguiar,
P. Deegan,
F. Ezgu,
A. Frustaci,
O. Lidove,
A. Linhart,
J. Lubanda,
J. Moon,
K. Nicholls,
D. Niu,
A. Nowak,
U. Ramaswami,
R. Reisin,
P. Rozenfeld,
...
R. Schiffmann,
E. Svarstad,
Mark Thomas,
R. Torra,
B. Vujkovac,
D. Warnock,
M. West,
Jack Johnson,
Mark J Rolfe,
S. Feriozzi
|
4 |
2020 |
4
🐜
|
|
🐜
|
Desensitisation of the youngest patient with Pompe disease in response to alglucosidase alfa.
8 auth.
I. E. Karagol,
A. Bakırtaş,
O. Yilmaz,
E. Topal,
A. Kucukcongar,
F. Ezgu,
...
M. S. Demirsoy,
I. Turktas
|
3 |
2014 |
3
🐜
|
|
🐜
|
Secondary Hemophagocytosis in Propionic Acidemia
9 auth.
Ç. Kasapkara,
M. Kanğın,
Banu Oflaz Ozmen,
M. Ozbek,
Remezan Demir,
M. Karataş,
...
L. Tumer,
F. Ezgu,
A. Hasanoğlu
|
3 |
2015 |
3
🐜
|
|
🐜
|
Longitudinal natural history of pediatric subjects affected with mucopolysaccharidosis IIIB.
21 auth.
I. Okur,
F. Ezgu,
R. Giugliani,
N. Muschol,
A. Koehn,
H. Amartino,
P. Harmatz,
M. J. de Castro Lopez,
M. Couce,
Shuan-Pei Lin,
...
S. Batzios,
M. Cleary,
M. Solano,
H. Peters,
J. Lee,
I. Nestrašil,
A. Shaywitz,
S. Maricich,
B. Kuca,
J. Kovalchin,
E. Zanelli
|
3 |
2022 |
3
🐜
|
|
🐜
|
First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient
8 auth.
Merve Emecen Şanlı,
H. I. Ertoy Karagol,
A. Kılıç,
Ekin Aktaşoğlu,
A. Inci,
I. Okur,
...
F. Ezgu,
L. Tumer
|
2 |
2021 |
2
🐜
|
|
🐜
|
Familial hyperphosphatemic tumoral calcinosis in an unusual and usual sites and dramatic improvement with the treatment of acetazolamide, sevelamer and topical sodium thiosulfate
7 auth.
Merve Emecen Şanlı,
A. Kılıç,
Ekin Aktaşoğlu,
A. Inci,
I. Okur,
F. Ezgu,
...
L. Tumer
|
2 |
2021 |
2
🐜
|
|
🐜
|
A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review
11 auth.
Sabire Gokalp,
Aslı Inci,
Ayşe Kılıç,
Ekin Ozsaydi,
Ayse Nur Altun,
Fevzi Demir,
...
F. Ergin,
M. N. Ozbek,
I. Okur,
F. Ezgu,
L. Tumer
|
0 |
2024 |
0
🐜
|
