|
🐜
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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
54 auth.
B. Ng,
E. Eklund,
S. Shiryaev,
Yin Dong,
M. Abbott,
C. Asteggiano,
M. Bamshad,
Eileen Barr,
J. Bernstein,
Shabeed Chelakkadan,
J. Christodoulou,
W. Chung,
Michael Ciliberto,
J. Cousin,
Fiona Gardiner,
...
Suman Ghosh,
William D Graf,
S. Grunewald,
Katherine C Hammond,
N. Hauser,
G. Hoganson,
Kimberly Houck,
J. Kohler,
E. Morava,
A. Larson,
Pengfei Liu,
S. Madathil,
Col Mccormack,
N. Meeks,
Rebecca L. Miller,
K. Monaghan,
D. Nickerson,
T. Palculict,
G. M. Papazoglu,
B. Pletcher,
I. Scheffer,
A. Schenone,
R. Schnur,
Y. Si,
L. Rowe,
A. S. Serrano Russi,
R. Russo,
Farouq Thabet,
A. Tuite,
María Mercedes Villanueva,
Raymond Y. Wang,
R. Webster,
D. Wilson,
Alice Zalan,
Undiagnosed Diseases Network,
L. Wolfe,
J. Rosenfeld,
Lindsay E. Rhodes,
H. Freeze
|
4 |
2020 |
4
🐜
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|
🦁
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Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis
7 auth.
G. M. Papazoglu,
M. Cubilla,
Marcela Pereyra,
R. D. de Kremer,
B. Pérez,
L. Sturiale,
...
C. Asteggiano
|
2 |
2021 |
2
🦁
|
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🐜
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COG1‐congenital disorders of glycosylation: Milder presentation and review
7 auth.
Marne Salazar,
N. Miyake,
Sebastián Silva,
Benjamín Solar,
G. M. Papazoglu,
C. Asteggiano,
...
N. Matsumoto
|
2 |
2021 |
2
🐜
|
|
🦁
|
Platelet Membrane Glycoprofiling in a PMM2-CDG Patient
10 auth.
G. M. Papazoglu,
S. Ruiz,
R. Salinas,
M.I. Pereira,
M.A. Cubilla,
F. Pesaola,
...
S. Ghione,
N. Ramadán,
I. Martínez-Duncker,
C. Asteggiano
|
1 |
2021 |
1
🦁
|
|
🐜
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Decision letter for "COG1-congenital disorders of glycosylation: Milder presentation and review"
7 auth.
Marne Salazar,
N. Miyake,
Sebastián Silva,
Benjamín Solar,
G. M. Papazoglu,
C. Asteggiano,
...
N. Matsumoto
|
1 |
2021 |
1
🐜
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