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Cuddapah, Sanmati R
10
results:
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1
Biochemical characterization of patients with dihydrolipoam..:
Wongkittichote, Parith
;
Cuddapah, Sanmati R
;
Master, Stephen R
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494496/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
2
Malate dehydrogenase 2 deficiency is an emerging cause of p..:
Priestley, Jessica R.C
;
Pace, Lisa M
;
Sen, Kuntal
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9676216/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
3
Newborn Screening for Pompe Disease: Pennsylvania Experienc:
Ficicioglu, Can
;
Ahrens-Nicklas, Rebecca C
;
Barch, Joshua
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712483/. , 2020
Link:
http://www.ncbi.nlm.nih...
?
4
Biochemical characterization of patients with dihydrolipoam..:
Parith Wongkittichote
;
Sanmati R. Cuddapah
;
Stephen R. Master
...
https://doi.org/10.1002/jmd2.12382. , 2023
Link:
https://doi.org/10.1002/..
?
5
Malate dehydrogenase 2 deficiency is an emerging cause of p..:
Jessica R.C. Priestley
;
Lisa M. Pace
;
Kuntal Sen
...
http://www.sciencedirect.com/science/article/pii/S221442692200091X. , 2022
Link:
https://doi.org/10.1016/..
?
6
Newborn Screening for Pompe Disease: Pennsylvania Experienc:
Can Ficicioglu
;
Rebecca C. Ahrens-Nicklas
;
Joshua Barch
...
https://dx.doi.org/10.3390/ijns6040089. , 2020
Link:
https://doi.org/10.3390/..
?
7
Newborn Screening for Pompe Disease: Pennsylvania Experienc:
Can Ficicioglu
;
Rebecca C. Ahrens-Nicklas
;
Joshua Barch
...
https://www.mdpi.com/2409-515X/6/4/89. , 2020
Link:
https://doi.org/10.3390/..
?
8
Expanding the phenotypic spectrum of ARCN1-related syndrome:
Ritter, Alyssa L
;
Gold, Jessica
;
Hayashi, Hiroshi
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9923403/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
9
Expanding the phenotypic spectrum of ARCN1-related syndrome:
Ritter, Alyssa L
;
Gold, Jessica
;
Hayashi, Hiroshi
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.02.005. , 2022
Link:
https://hal.science/hal-..
?
10
A new syndrome of moyamoya disease, kidney dysplasia, amino..:
Strong, Alanna
;
O'Grady, Gina
;
Shih, Evelyn
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8360119/. , 2021
Link:
http://www.ncbi.nlm.nih...
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