|
🐜
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The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease
24 auth.
Adam J Guenzel,
Coleman T. Turgeon,
K. Nickander,
Amy L White,
Dawn S. Peck,
Gisele Pino,
April L. Studinski,
V. Prasad,
J. Kurtzberg,
M. Escolar,
...
M. L. D. Lasio,
J. Pellegrino,
Ai Sakonju,
R. Hickey,
Natalie M. Shallow,
Margie A. Ream,
J. Orsini,
M. Gelb,
K. Raymond,
D. Gavrilov,
D. Oglesbee,
P. Rinaldo,
S. Tortorelli,
D. Matern
|
5 |
2020 |
5
🐜
|
|
🐜
|
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
20 auth.
Dawn S. Peck,
J. Lacey,
Amy L White,
Gisele Pino,
April L. Studinski,
Rachel Fisher,
Ayesha Ahmad,
L. Spencer,
Sarah Viall,
Natalie M. Shallow,
...
Amy Siemon,
J. A. Hamm,
Brianna K Murray,
Kelly L. Jones,
D. Gavrilov,
D. Oglesbee,
K. Raymond,
D. Matern,
P. Rinaldo,
S. Tortorelli
|
4 |
2020 |
4
🐜
|
|
🐜
|
A new D‐galactose treatment monitoring index for PGM1‐CDG
11 auth.
Ester Perales-Clemente,
Kris Liedtke,
April L. Studinski,
S. Radenkovic,
D. Gavrilov,
D. Oglesbee,
...
D. Matern,
P. Rinaldo,
S. Tortorelli,
E. Morava,
K. Raymond
|
3 |
2021 |
3
🐜
|
|
🐜
|
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
20 auth.
Dawn S. Peck,
J. Lacey,
Amy L White,
Gisele Pino,
April L. Studinski,
Rachel Fisher,
Ayesha Ahmad,
L. Spencer,
Sarah Viall,
Natalie M. Shallow,
...
Amy Siemon,
J. Hamm,
Brianna K Murray,
Kelly L Jones,
D. Gavrilov,
D. Oglesbee,
K. Raymond,
D. Matern,
P. Rinaldo,
S. Tortorelli
|
3 |
2020 |
3
🐜
|
|
🐜
|
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.
16 auth.
Gisele Pino,
Erin Conboy,
S. Tortorelli,
S. Minnich,
K. Nickander,
J. Lacey,
Dawn S. Peck,
April L. Studinski,
Amy White,
D. Gavrilov,
...
P. Rinaldo,
D. Matern,
D. Oglesbee,
R. Giugliani,
M. Burin,
K. Raymond
|
3 |
2019 |
3
🐜
|
|
🐜
|
Sensitivity of transferrin isoform analysis for PMM2-CDG.
13 auth.
Patrica L. Hall,
Kris Liedke,
Coleman T. Turgeon,
Amy L White,
Gesele Bentz Pino,
Dawn S. Peck,
April L. Studinski,
D. Gavrilov,
S. Tortorelli,
D. Oglesbee,
...
D. Matern,
K. Raymond,
M. J. Schultz
|
1 |
2024 |
1
🐜
|
