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Sanmati R. Cuddapah
30
results:
Search for persons
X
Format
Online (30)
Mediatypes
Articles (Online) (18)
Bookchapter (Online) (2)
OpenAccess-fulltext (10)
Sorted by: Relevance
Sorted by: Year
?
1
2-Methylglutaconic acid as a biomarker in routine urine org..:
Wongkittichote, Parith
;
Hong, Xinying
;
Master, Stephen R.
...
Molecular Genetics and Metabolism. 138 (2023) 4 - p. 107549 , 2023
Link:
https://doi.org/10.1016/..
?
2
Biochemical characterization of patients with dihydrolipoam..:
Wongkittichote, Parith
;
Cuddapah, Sanmati R.
;
Master, Stephen R.
...
JIMD Reports. 64 (2023) 5 - p. 367-374 , 2023
Link:
https://doi.org/10.1002/..
?
3
Malate dehydrogenase 2 deficiency is an emerging cause of p..:
Priestley, Jessica R.C.
;
Pace, Lisa M.
;
Sen, Kuntal
...
Molecular Genetics and Metabolism Reports. 33 (2022) - p. 100931 , 2022
Link:
https://doi.org/10.1016/..
?
4
Newborn Screening for Pompe Disease: Pennsylvania Experienc:
Ficicioglu, Can
;
Ahrens-Nicklas, Rebecca C.
;
Barch, Joshua
...
International Journal of Neonatal Screening. 6 (2020) 4 - p. 89 , 2020
Link:
https://doi.org/10.3390/..
?
5
IRF6 Sequencing in Interrupted Clefting:
Cuddapah, Sanmati R.
;
Kominek, Selma
;
Grant III, John H.
.
The Cleft Palate-Craniofacial Journal. 53 (2016) 3 - p. 373-376 , 2016
Link:
https://doi.org/10.1597/..
?
6
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...
?
7
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/..
?
8
Expanding the phenotypic spectrum of ARCN1-related syndrome:
Ritter, Alyssa L.
;
Gold, Jessica
;
Hayashi, Hiroshi
...
Genetics in Medicine. 24 (2022) 6 - p. 1227-1237 , 2022
Link:
https://doi.org/10.1016/..
?
9
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/..
?
10
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...
?
11
A new syndrome of moyamoya disease, kidney dysplasia, amino..:
Strong, Alanna
;
O'Grady, Gina
;
Shih, Evelyn
...
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2168-2174 , 2021
Link:
https://doi.org/10.1002/..
?
12
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...
?
13
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/..
?
14
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/..
?
15
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...
1-15
