E-LIB Suche - Ergebnisse für: Frigeni, Marta

1

Tablet-based Rey–Osterrieth Complex Figure copy task: a nov..:

Frigeni, Marta ; Petilli, Marco A. ; Gobbo, Silvia...
Scientific Reports. 14 (2024) 1 - p. , 2024

2

PRIMARY CARNITINE DEFICIENCY: THE EFFECT OF 4-PHENYLBUTYRIC..:

Frigeni, Marta ; Ingoglia, Filippo ; Balakrishnan, Bijina..
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107413 , 2023

Link: https://doi.org/10.1016/..

3

NOVEL VARIANTS IDENTIFIED IN TWO SIBLINGS WITH MUCOPOLYSACC..:

Moore, Christine ; Frigeni, Marta
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107460 , 2023

Link: https://doi.org/10.1016/..

4

MPSI Manifestations and Treatment Outcome: Skeletal Focus:

De Ponti, Giada ; Donsante, Samantha ; Frigeni, Marta...
International Journal of Molecular Sciences. 23 (2022) 19 - p. 11168 , 2022

Link: https://doi.org/10.3390/..

5

Cellular, molecular, and metabolic aspects of developing lu..:

Perveen, Shahana ; Frigeni, Marta ; Benveniste, Helene.
Frontiers in Pediatrics. 10 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

6

Clinical and biochemical outcomes in cobalamin C deficiency..:

Kacpura, Abigail ; Frigeni, Marta ; Gunther, Kathryn.
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1831-1835 , 2022

Link: https://doi.org/10.1002/..

7

The youngest pair of siblings with Mucopolysaccharidosis ty..:

Frigeni, Marta ; Rodriguez‐Buritica, David F. ; Saavedra, Heather...
American Journal of Medical Genetics Part A. 185 (2021) 11 - p. 3510-3516 , 2021

Link: https://doi.org/10.1002/..

8

Clinical and biochemical outcome with parenteral hydroxocob..:

Kacpura, Abigail ; Gunther, Kathryn ; Frigeni, Marta.
Molecular Genetics and Metabolism. 132 (2021) - p. S144-S145 , 2021

Link: https://doi.org/10.1016/..

9

Phosphocyclocreatine is the dominant form of cyclocreatine ..:

Gorshkov, Kirill ; Wang, Amy Q. ; Sun, Wei...
Pharmacology Research & Perspectives. 7 (2019) 6 - p. , 2019

Link: https://doi.org/10.1002/..

10

Carnitine transport and fatty acid oxidation:

Longo, Nicola ; Frigeni, Marta ; Pasquali, Marzia
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1863 (2016) 10 - p. 2422-2435 , 2016

Link: https://doi.org/10.1016/..

11

Wide tolerance to amino acids substitutions in the OCTN1 er..:

Frigeni, Marta ; Iacobazzi, Francesco ; Yin, Xue.
Biochimica et Biophysica Acta (BBA) - General Subjects. 1860 (2016) 6 - p. 1334-1342 , 2016

Link: https://doi.org/10.1016/..

12

MPSI Manifestations and Treatment Outcome: Skeletal Focus:

De Ponti, Giada ; Donsante, Samantha ; Frigeni, Marta...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569890/. , 2022

Link: http://www.ncbi.nlm.nih...

13

Cellular, molecular, and metabolic aspects of developing lu..:

Perveen, Shahana ; Frigeni, Marta ; Benveniste, Helene.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9706094/. , 2022

Link: http://www.ncbi.nlm.nih...

14

Phosphocyclocreatine is the dominant form of cyclocreatine ..:

Gorshkov, Kirill ; Wang, Amy Q ; Sun, Wei...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6924099/. , 2019

Link: http://www.ncbi.nlm.nih...

15

Wide Tolerance to Amino Acids Substitutions In The OCTN1 Er..:

Frigeni, Marta ; Iacobazzi, Francesco ; Yin, Xue.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4838292/. , 2016

Link: http://www.ncbi.nlm.nih...